SH2D1A

GENE INFORMATION

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Gene name

SH2D1A (HGNC Symbol)

Synonyms

DSHP, EBVS, IMD5, LYP, MTCP1, SAP, XLP, XLPD

Description

SH2 domain containing 1A (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

q25

Chromosome location (bp)

123480194 - 123507005

Ensembl

ENSG00000183918 (version 73.37)

Entrez gene

4068

UniProt

O60880 (UniProt - Evidence at protein level)

neXtProt

NX_O60880

Antibodypedia

SH2D1A antibodies
 

PROTEIN VIEW

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SH2D1A-002
 
SH2D1A-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SH2D1A-002 ENSP00000360181
ENST00000371139
O60880
Show all »
Show » Show » 128 14.2 No 0
SH2D1A-006 ENSP00000353126
ENST00000360027
O60880
Show all »
Show » Show » 125 13.9 No 0