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SMARCA2
HPA
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  • SMARCA2
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SMARCA2
Synonyms BAF190, BRM, hBRM, hSNF2a, SNF2, SNF2L2, SNF2LA, Sth1p, SWI2
Gene descriptioni

Full gene name according to HGNC.

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 9
Cytoband p24.3
Chromosome location (bp) 1980290 - 2193624
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

47
Ensembl ENSG00000080503 (version 109)
Entrez gene 6595
HGNC HGNC:11098
UniProt P51531 (UniProt - Evidence at protein level)
neXtProt NX_P51531
GeneCards SMARCA2
Antibodypedia SMARCA2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically 1, 2. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Activator, DNA-binding, Helicase, Hydrolase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Neurogenesis, Transcription, Transcription regulation
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SMARCA2-201
ENSP00000305411
ENST00000302401
B1ALF6
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
278 aa
32 kDa
Yes 0
SMARCA2-202
ENSP00000324770
ENST00000324954
F6T8Q0
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
248 aa
28.9 kDa
No 0
SMARCA2-203
ENSP00000265773
ENST00000349721
P51531
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000166 [nucleotide binding]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007286 [spermatid development]
GO:0007399 [nervous system development]
GO:0008094 [ATP-dependent activity, acting on DNA]
GO:0008284 [positive regulation of cell population proliferation]
GO:0008285 [negative regulation of cell population proliferation]
GO:0016514 [SWI/SNF complex]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0030071 [regulation of mitotic metaphase/anaphase transition]
GO:0030308 [negative regulation of cell growth]
GO:0035060 [brahma complex]
GO:0042393 [histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045596 [negative regulation of cell differentiation]
GO:0045597 [positive regulation of cell differentiation]
GO:0045663 [positive regulation of myoblast differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0070316 [regulation of G0 to G1 transition]
GO:0070603 [SWI/SNF superfamily-type complex]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
GO:0140092 [bBAF complex]
GO:0140288 [GBAF complex]
GO:0140658 [ATP-dependent chromatin remodeler activity]
GO:1902459 [positive regulation of stem cell population maintenance]
GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
GO:2000781 [positive regulation of double-strand break repair]
GO:2000819 [regulation of nucleotide-excision repair]
Show all
1590 aa
181.3 kDa
No 0
SMARCA2-204
ENSP00000349788
ENST00000357248
P51531
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000166 [nucleotide binding]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007399 [nervous system development]
GO:0008094 [ATP-dependent activity, acting on DNA]
GO:0008284 [positive regulation of cell population proliferation]
GO:0008285 [negative regulation of cell population proliferation]
GO:0016514 [SWI/SNF complex]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0030071 [regulation of mitotic metaphase/anaphase transition]
GO:0030308 [negative regulation of cell growth]
GO:0035060 [brahma complex]
GO:0042393 [histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045596 [negative regulation of cell differentiation]
GO:0045597 [positive regulation of cell differentiation]
GO:0045663 [positive regulation of myoblast differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0070316 [regulation of G0 to G1 transition]
GO:0070603 [SWI/SNF superfamily-type complex]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
GO:0140092 [bBAF complex]
GO:0140288 [GBAF complex]
GO:0140658 [ATP-dependent chromatin remodeler activity]
GO:1902459 [positive regulation of stem cell population maintenance]
GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
GO:2000781 [positive regulation of double-strand break repair]
GO:2000819 [regulation of nucleotide-excision repair]
Show all
1572 aa
179.3 kDa
No 0
SMARCA2-205
ENSP00000371618
ENST00000382183
B1ALG1
[Direct mapping] Probable global transcription activator SNF2L2; cDNA FLJ59976, highly similar to Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
236 aa
27.5 kDa
No 0
SMARCA2-206
ENSP00000371620
ENST00000382185
B4DNT1
[Direct mapping] Probable global transcription activator SNF2L2; cDNA FLJ61143, highly similar to Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
276 aa
31.7 kDa
Yes 0
SMARCA2-207
ENSP00000371621
ENST00000382186
B1ALG2
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
254 aa
29.5 kDa
No 0
SMARCA2-208
ENSP00000371629
ENST00000382194
P51531
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000166 [nucleotide binding]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007399 [nervous system development]
GO:0008094 [ATP-dependent activity, acting on DNA]
GO:0008284 [positive regulation of cell population proliferation]
GO:0008285 [negative regulation of cell population proliferation]
GO:0016514 [SWI/SNF complex]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0030071 [regulation of mitotic metaphase/anaphase transition]
GO:0030308 [negative regulation of cell growth]
GO:0035060 [brahma complex]
GO:0042393 [histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045596 [negative regulation of cell differentiation]
GO:0045597 [positive regulation of cell differentiation]
GO:0045663 [positive regulation of myoblast differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0070316 [regulation of G0 to G1 transition]
GO:0070603 [SWI/SNF superfamily-type complex]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
GO:0140092 [bBAF complex]
GO:0140288 [GBAF complex]
GO:0140658 [ATP-dependent chromatin remodeler activity]
GO:1902459 [positive regulation of stem cell population maintenance]
GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
GO:2000781 [positive regulation of double-strand break repair]
GO:2000819 [regulation of nucleotide-excision repair]
Show all
1572 aa
179.3 kDa
No 0
SMARCA2-209
ENSP00000371638
ENST00000382203
P51531
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000166 [nucleotide binding]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007399 [nervous system development]
GO:0008094 [ATP-dependent activity, acting on DNA]
GO:0008284 [positive regulation of cell population proliferation]
GO:0008285 [negative regulation of cell population proliferation]
GO:0016514 [SWI/SNF complex]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0030071 [regulation of mitotic metaphase/anaphase transition]
GO:0030308 [negative regulation of cell growth]
GO:0035060 [brahma complex]
GO:0042393 [histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045596 [negative regulation of cell differentiation]
GO:0045597 [positive regulation of cell differentiation]
GO:0045663 [positive regulation of myoblast differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0070316 [regulation of G0 to G1 transition]
GO:0070603 [SWI/SNF superfamily-type complex]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
GO:0140092 [bBAF complex]
GO:0140288 [GBAF complex]
GO:0140658 [ATP-dependent chromatin remodeler activity]
GO:1902459 [positive regulation of stem cell population maintenance]
GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
GO:2000781 [positive regulation of double-strand break repair]
GO:2000819 [regulation of nucleotide-excision repair]
Show all
1590 aa
181.3 kDa
No 0
SMARCA2-210
ENSP00000412242
ENST00000416751
F6UH26
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
192 aa
22.6 kDa
No 0
SMARCA2-211
ENSP00000387486
ENST00000417599
B4DNT1
[Direct mapping] Probable global transcription activator SNF2L2; cDNA FLJ61143, highly similar to Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
276 aa
31.7 kDa
Yes 0
SMARCA2-212
ENSP00000413057
ENST00000423555
F6XE55
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
228 aa
26.4 kDa
Yes 0
SMARCA2-213
ENSP00000409398
ENST00000439732
A0A0A0MT03
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
215 aa
22.1 kDa
No 0
SMARCA2-214
ENSP00000392081
ENST00000450198
F6VDE0
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0042393 [histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070603 [SWI/SNF superfamily-type complex]
GO:0140658 [ATP-dependent chromatin remodeler activity]
Show all
1514 aa
172.6 kDa
No 0
SMARCA2-215
ENSP00000401096
ENST00000452193
A0A0A0MSS5
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
182 aa
21.4 kDa
No 0
SMARCA2-216
ENSP00000415218
ENST00000457226
F6RS74
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
193 aa
19.7 kDa
No 0
SMARCA2-219
ENSP00000489142
ENST00000634287
A0A0U1RQS1
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
62 aa
6.3 kDa
No 0
SMARCA2-220
ENSP00000489388
ENST00000634338
A0A0U1RR83
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
244 aa
28.1 kDa
Yes 0
SMARCA2-221
ENSP00000489615
ENST00000634343
A0A0U1RRN2
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
231 aa
26.8 kDa
No 0
SMARCA2-223
ENSP00000489212
ENST00000634435
A0A0U1RQX3
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
245 aa
28.3 kDa
Yes 0
SMARCA2-225
ENSP00000489473
ENST00000634688
A0A0U1RRD6
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
149 aa
17.6 kDa
No 0
SMARCA2-226
ENSP00000489504
ENST00000634706
A0A0U1RRF8
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
169 aa
20 kDa
No 0
SMARCA2-228
ENSP00000489518
ENST00000634772
A0A0U1RRG6
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
GO:0042393 [histone binding]
Show all
270 aa
32.1 kDa
No 0
SMARCA2-229
ENSP00000489302
ENST00000634781
A0A0U1RR26
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
260 aa
30.2 kDa
No 0
SMARCA2-231
ENSP00000489433
ENST00000634931
B1ALG2
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
254 aa
29.5 kDa
No 0
SMARCA2-235
ENSP00000489168
ENST00000635133
A0A0U1RQU0
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
200 aa
23.1 kDa
Yes 0
SMARCA2-236
ENSP00000488947
ENST00000635185
A0A0U1RQE1
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0140658 [ATP-dependent chromatin remodeler activity]
Show all
228 aa
26.2 kDa
No 0
SMARCA2-237
ENSP00000489560
ENST00000635226
A0A0U1RRJ8
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
57 aa
6.1 kDa
No 0
SMARCA2-239
ENSP00000489271
ENST00000635388
A0A0U1RR09
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
202 aa
23.7 kDa
No 0
SMARCA2-242
ENSP00000489204
ENST00000635530
A0A0U1RQW7
[Direct mapping] Probable global transcription activator SNF2L2
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
Show all
229 aa
26.5 kDa
Yes 0
SMARCA2-245
ENSP00000489555
ENST00000635688
A0A0U1RRJ4
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
68 aa
7.9 kDa
No 0
SMARCA2-248
ENSP00000490645
ENST00000636221
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
4 aa
0.4 kDa
No 0
SMARCA2-252
ENSP00000490852
ENST00000636559
A0A1B0GWA8
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
Show all
279 aa
29.7 kDa
No 0
SMARCA2-254
ENSP00000489968
ENST00000636903
A0A1B0GU54
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
Show all
288 aa
30.3 kDa
No 0
SMARCA2-255
ENSP00000490262
ENST00000636916
A0A1B0GUV6
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
37 aa
3.9 kDa
No 0
SMARCA2-257
ENSP00000490411
ENST00000637097
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
3 aa
0.3 kDa
No 0
SMARCA2-258
ENSP00000490486
ENST00000637103
A0A1B0GU54
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
Show all
288 aa
30.3 kDa
No 0
SMARCA2-259
ENSP00000489667
ENST00000637134
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0140658 [ATP-dependent chromatin remodeler activity]
Show all
1152 aa
129.9 kDa
No 0
SMARCA2-260
ENSP00000490757
ENST00000637352
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
6 aa
0.7 kDa
No 0
SMARCA2-262
ENSP00000489645
ENST00000637383
A0A1B0GTC9
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
9 aa
0.9 kDa
No 0
SMARCA2-263
ENSP00000490551
ENST00000637806
A0A1B0GWA8
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045111 [intermediate filament cytoskeleton]
Show all
279 aa
29.7 kDa
No 0
SMARCA2-266
ENSP00000492585
ENST00000639760
A0A1W2PS06
[Direct mapping] Probable global transcription activator SNF2L2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016586 [RSC-type complex]
GO:0016887 [ATP hydrolysis activity]
GO:0042393 [histone binding]
Show all
271 aa
31.7 kDa
No 0
SMARCA2-267
ENSP00000515861
ENST00000704350
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0042393 [histone binding]
GO:0140658 [ATP-dependent chromatin remodeler activity]
Show all
1452 aa
167.1 kDa
No 0
SMARCA2-268
ENSP00000515862
ENST00000704351
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
160 aa
16.8 kDa
No 0
SMARCA2-269
ENSP00000515863
ENST00000704352
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
636 aa
69.9 kDa
No 0
SMARCA2-270
ENSP00000515864
ENST00000704353
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
Show all
654 aa
71.9 kDa
No 0
SMARCA2-272
ENSP00000515866
ENST00000704355
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006338 [chromatin remodeling]
GO:0016514 [SWI/SNF complex]
GO:0016887 [ATP hydrolysis activity]
GO:0042393 [histone binding]
GO:0140658 [ATP-dependent chromatin remodeler activity]
Show all
1027 aa
120 kDa
No 0

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