SH2D1A

GENERAL INFORMATION

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Gene name

SH2D1A

Gene description

SH2 domain containing 1A

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (lymph node)
GTEx:Group enriched (adipose tissue, lung, small intestine, spleen)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (lymph node)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (adipose tissue, lung, small intestine, spleen)

Organ

Expression



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

Cytoband

q25

Chromosome location (bp)

124346344 - 124373155

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183918 (version 78.38)

Entrez gene

4068

UniProt

O60880 (UniProt - Evidence at protein level)

neXtProt

NX_O60880

Antibodypedia

SH2D1A antibodies


PROTEIN BROWSER

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ENST00000360027
 
ENST00000371139
 
ENST00000477673
 
 
 
 


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-005 ENSP00000477094
ENST00000477673
O60880
Show all »
Show » Show » 76 8.2 No 0
SH2D1A-006 ENSP00000353126
ENST00000360027
O60880
Show all »
Show » Show » 125 13.9 No 0