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  • NBEA
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.

NBEA
Synonyms BCL8B, FLJ10197, KIAA1544, LYST2
Gene descriptioni

Full gene name according to HGNC.

Neurobeachin
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.

Membrane, 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 13
Cytoband q13.3
Chromosome location (bp) 34942270 - 35673022
Number of transcriptsi

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

25
Ensembl ENSG00000172915 (version 109)
Entrez gene 26960
HGNC HGNC:7648
UniProt Q8NFP9 (UniProt - Evidence at protein level)
neXtProt NX_Q8NFP9
GeneCards NBEA
Antibodypedia NBEA antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).... show less
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]... 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)
NBEA-202
ENSP00000369271
ENST00000379939
Q5T321
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0019901 [protein kinase binding]
GO:0050808 [synapse organization]
GO:0061484 [hematopoietic stem cell homeostasis]
GO:0098696 [regulation of neurotransmitter receptor localization to postsynaptic specialization membrane]
GO:0098890 [extrinsic component of postsynaptic membrane]
GO:0098978 [glutamatergic synapse]
GO:0098982 [GABA-ergic synapse]
GO:0099192 [cerebellar Golgi cell to granule cell synapse]
Show all
2967 aa
330.4 kDa
No 1
NBEA-203
ENSP00000383295
ENST00000400445
Q8NFP9
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
2946 aa
327.8 kDa
No 1
NBEA-206
ENSP00000440233
ENST00000537702
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-207
ENSP00000486239
ENST00000629018
A0A0D9SF28
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1494 aa
166.4 kDa
No 1
NBEA-210
ENSP00000509799
ENST00000685329
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-211
ENSP00000509879
ENST00000685686
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-213
ENSP00000508957
ENST00000685987
A0A8I5KXL4
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
785 aa
89.1 kDa
No 0
NBEA-214
ENSP00000510804
ENST00000685991
A0A8I5KXY8
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
349 aa
40.4 kDa
No 0
NBEA-215
ENSP00000508724
ENST00000686320
A0A8I5KX92
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1020 aa
113.5 kDa
No 0
NBEA-219
ENSP00000510596
ENST00000686741
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-220
ENSP00000509331
ENST00000686952
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-222
ENSP00000510538
ENST00000687287
A0A8I5KS18
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
755 aa
85.9 kDa
No 0
NBEA-229
ENSP00000509646
ENST00000688335
A0A8I5KWL1
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
734 aa
83.4 kDa
No 0
NBEA-230
ENSP00000510178
ENST00000688363
A0A8I5KSX3
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
2198 aa
245.5 kDa
No 1
NBEA-231
ENSP00000509488
ENST00000688422
A0A8I5KRX1
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
185 aa
21.7 kDa
No 0
NBEA-232
ENSP00000509239
ENST00000688626
A0A8I5QKR1
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
2228 aa
248.8 kDa
No 1
NBEA-235
ENSP00000509389
ENST00000689454
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-239
ENSP00000510796
ENST00000690712
A0A8I5KTY1
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
1041 aa
115.8 kDa
No 1
NBEA-241
ENSP00000510740
ENST00000690976
A0A8I5KTV6
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
729 aa
82.7 kDa
No 0
NBEA-243
ENSP00000510404
ENST00000691196
A0A8I5KZ13
[Direct mapping] Neurobeachin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
1316 aa
145.8 kDa
No 1
NBEA-244
ENSP00000509284
ENST00000691351
A0A8I5QKR6
[Direct mapping] Neurobeachin
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
1322 aa
146.8 kDa
No 0
NBEA-245
ENSP00000510517
ENST00000691561
A0A8I5KWL1
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
734 aa
83.4 kDa
No 0
NBEA-249
ENSP00000510083
ENST00000692464
A0A8I5QJQ0
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
184 aa
18.9 kDa
No 0
NBEA-255
ENSP00000509811
ENST00000693262
Q8NFP9
[Direct mapping] Neurobeachin
Show all
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 nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005802 [trans-Golgi network]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0008104 [protein localization]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
Show all
739 aa
84 kDa
No 0
NBEA-258
ENSP00000508505
ENST00000693735
A0A8I5KRZ1
[Direct mapping] Neurobeachin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
635 aa
71.6 kDa
No 0

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