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AUTS2
HPA
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  • AUTS2
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.

AUTS2
Synonyms FBRSL2, KIAA0442
Gene descriptioni

Full gene name according to HGNC.

Activator of transcription and developmental regulator AUTS2
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 7
Cytoband q11.22
Chromosome location (bp) 69598296 - 70793506
Number of transcriptsi

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

16
Ensembl ENSG00000158321 (version 109)
Entrez gene 26053
HGNC HGNC:14262
UniProt Q8WXX7 (UniProt - Evidence at protein level)
neXtProt NX_Q8WXX7
GeneCards AUTS2
Antibodypedia AUTS2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility 1. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B 2. As a consequence, the complex mediates transcriptional activation 3. In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).... show less
Biological process (UniProt)i

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

Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 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)
AUTS2-201
ENSP00000344087
ENST00000342771
Q8WXX7
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0001764 [neuron migration]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005575 [cellular_component]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0015629 [actin cytoskeleton]
GO:0030426 [growth cone]
GO:0031532 [actin cytoskeleton reorganization]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042995 [cell projection]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048675 [axon extension]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0097484 [dendrite extension]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
1259 aa
139 kDa
No 0
AUTS2-202
ENSP00000385572
ENST00000403018
Q8WXX7
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001764 [neuron migration]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005575 [cellular_component]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0015629 [actin cytoskeleton]
GO:0030426 [growth cone]
GO:0031532 [actin cytoskeleton reorganization]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042995 [cell projection]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048675 [axon extension]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0097484 [dendrite extension]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
266 aa
29.3 kDa
No 0
AUTS2-203
ENSP00000385263
ENST00000406775
Q8WXX7
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0001764 [neuron migration]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005575 [cellular_component]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0010592 [positive regulation of lamellipodium assembly]
GO:0015629 [actin cytoskeleton]
GO:0030426 [growth cone]
GO:0031532 [actin cytoskeleton reorganization]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042995 [cell projection]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048675 [axon extension]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0097484 [dendrite extension]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
1235 aa
136.4 kDa
No 0
AUTS2-207
ENSP00000393548
ENST00000443672
H7C090
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
147 aa
16.6 kDa
No 0
AUTS2-208
ENSP00000400227
ENST00000449547
H7C1G5
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
142 aa
15.4 kDa
No 0
AUTS2-217
ENSP00000478134
ENST00000611706
Q75MD7
[Direct mapping] Autism susceptibility gene 2 protein; Uncharacterized protein AUTS2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
1011 aa
111.7 kDa
No 0
AUTS2-218
ENSP00000479325
ENST00000615871
A0A087WVB5
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
987 aa
109.2 kDa
No 0
AUTS2-220
ENSP00000494680
ENST00000643587
A0A2R8YEX6
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
99 aa
10.8 kDa
No 0
AUTS2-221
ENSP00000494446
ENST00000643936
A0A2R8Y516
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
151 aa
17.3 kDa
No 0
AUTS2-222
ENSP00000494561
ENST00000644359
A0A2R8Y568
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
786 aa
87.4 kDa
No 0
AUTS2-223
ENSP00000496672
ENST00000644506
A0A024RDL5
[Direct mapping] Autism susceptibility candidate 2, isoform CRA_a; Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
801 aa
89.2 kDa
No 0
AUTS2-224
ENSP00000496726
ENST00000644939
A0A2R8Y8C6
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
1258 aa
138.9 kDa
No 0
AUTS2-225
ENSP00000495704
ENST00000644949
A0A2R8Y6Q9
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
99 aa
11 kDa
No 0
AUTS2-229
ENSP00000494226
ENST00000647140
A0A2R8Y522
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
881 aa
97.6 kDa
No 0
AUTS2-230
ENSP00000499508
ENST00000656200
A0A590UJP3
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
152 aa
16.7 kDa
No 0
AUTS2-233
ENSP00000499733
ENST00000664521
A0A590UK55
[Direct mapping] Autism susceptibility gene 2 protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Show all
62 aa
6.9 kDa
No 0

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