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Gene: SH2D1A (SH2 domain containing 1A) Homo sapiens
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Symbol: SH2D1A
Name: SH2 domain containing 1A
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DSHP; Duncan disease SH2-protein; EBVS; FLJ18687; FLJ92177; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; SH2 domain-containing protein 1A; signaling lymphocyte activation molecule-associated protein; signaling lymphocytic activation molecule-associated protein; SLAM associated protein/SH2 domain protein 1A; SLAM-associated protein; T cell signal transduction molecule SAP; T-cell signal transduction molecule SAP; XLP; XLPD; XLPD1
Orthologs:
Mus musculus (house mouse) : Sh2d1a (SH2 domain containing 1A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sh2d1a (SH2 domain containing 1A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sh2d1a (SH2 domain containing 1A)
Pan paniscus (bonobo/pygmy chimpanzee) : SH2D1A (SH2 domain containing 1A)
Canis lupus familiaris (dog) : SH2D1A (SH2 domain containing 1A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sh2d1a (SH2 domain containing 1A)
Sus scrofa (pig) : SH2D1A (SH2 domain containing 1A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X124,346,282 - 124,373,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X123,480,132 - 123,507,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X123,307,831 - 123,334,686 (+)NCBINCBI36hg18NCBI36
Build 34X123,205,728 - 123,232,540NCBI
CeleraX123,864,695 - 123,891,574 (+)NCBI
Cytogenetic MapXq25NCBI
HuRefX112,860,780 - 112,888,184 (+)NCBIHuRef
CHM1_1X123,391,547 - 123,418,040 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SH2D1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1346207
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.