LP33341-6
SH2D1A gene
Active
Description
The SH2D1A gene (SH2 domain containing 1A) [HGNC Gene ID:10820] is located on chromosome Xq25. 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] [NCBI Gene ID:4068] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- SH2D1A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-04-12
- Construct for LOINC Short Name
- SH2D1A gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SH2D1A 基因 Synonyms: DSHP; |
| et-EE | Estonian (Estonia) | SH2D1A geen |
| es-ES | Spanish (Spain) | Gen SH2D1A |
| it-IT | Italian (Italy) | SH2D1A, gene Synonyms: Gene SH2D1A |
| tr-TR | Turkish (Turkey) | SH2D1A geni |
| ru-RU | Russian (Russian Federation) | SH2D1A ген |
| nl-NL | Dutch (Netherlands) | SH2D1A-gen Synonyms: SH2D1A gen |
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