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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SH2D2A
SH2 domain containing 2A
Chromosome 1 · 1q23.1
NCBI Gene: 9047Ensembl: ENSG00000027869.14HGNC: HGNC:10821UniProt: Q5UBZ2
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activityT cell activationcytoplasmhypothyroidismmyxedemaneurodegenerative diseasethyroid disease
✦AI Summary

SH2D2A encodes T-cell-specific adapter protein (TSAd), a T-cell-specific adapter protein involved in controlling T-cell activation 1. The gene spans 11 kilobases on chromosome 1-1q22 with nine exons and produces four alternative transcript variants in activated T cells 2. TSAd functions as a protein-macromolecule adaptor that facilitates signal transduction downstream of T-cell receptor stimulation, with transcriptional activation critically dependent on a cAMP response element in the proximal promoter 3. Functionally, SH2D2A modulates T-cell activation by negative control mechanisms 1, and loss-of-function mutations can paradoxically enhance T-cell effector functions in tumor-infiltrating lymphocytes 4. Clinically, SH2D2A polymorphisms contribute to autoimmune disease susceptibility. Short GA repeat alleles (GA₁₃-GA₁₆) in the promoter are associated with multiple sclerosis, with affected individuals showing reduced TSAd expression after CD4+ T-cell activation 56. Similar associations exist for juvenile rheumatoid arthritis, particularly in HLA-DRB1*08-positive patients 1. These findings suggest SH2D2A variants represent important biomarkers for autoimmune disease susceptibility 7, while somatic SH2D2A mutations in tumor-infiltrating lymphocytes may enhance antitumor immunity and response to checkpoint inhibitors 4.

Sources cited
1
SH2D2A loss-of-function mutations in tumor-infiltrating lymphocytes activate T-cell effector functions and enhance antitumor immunity
PMID: 39167601
2
SH2D2A GA repeat polymorphism is associated with multiple sclerosis susceptibility in Nordic populations
PMID: 18554728
3
SH2D2A encodes T-cell-specific adapter protein involved in negative control of T-cell activation; short alleles associated with juvenile rheumatoid arthritis
PMID: 15129233
4
SH2D2A gene structure: located on chromosome 1q21-1q22, spans 11 kilobases with nine exons; produces four transcript variants in activated T cells
PMID: 10752626
5
SH2D2A transcriptional regulation depends on a cAMP response element in the proximal promoter; rapidly induced in activated T cells
PMID: 15128801
6
Short SH2D2A promoter alleles associated with MS; T cells with short alleles display lower TSAd expression after activation
PMID: 11528519
7
SH2D2A is among genes associated with multiple sclerosis susceptibility in complex genetic inheritance
PMID: 14747002
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.48Moderate
myxedemaOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
thyroid diseaseOpen Targets
0.27Weak
autoimmune thyroid diseaseOpen Targets
0.25Weak
neoplasmOpen Targets
0.09Suggestive
autoimmune diseaseOpen Targets
0.08Suggestive
ThyrotoxicosisOpen Targets
0.07Suggestive
rheumatoid arthritisOpen Targets
0.06Suggestive
Hashimoto's thyroiditisOpen Targets
0.05Suggestive
multiple myelomaOpen Targets
0.04Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.02Suggestive
AutoimmunityOpen Targets
0.02Suggestive
Tetralogy of FallotOpen Targets
0.02Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
multiple sclerosisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSH2DShared pathway100%TREML2Shared pathway100%PIK3R1Protein interaction97%PLCG2Protein interaction96%ITKProtein interaction95%KDRProtein interaction95%
Tissue Expression6 tissues
Lung
100%
Liver
37%
Bone Marrow
23%
Ovary
13%
Heart
7%
Brain
3%
Gene Interaction Network
Click a node to explore
SH2D2AHSH2DTREML2PIK3R1PLCG2ITKKDR
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5UBZ2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.56–1.07]
RankingsWhere SH2D2A stands among ~20K protein-coding genes
  • #8,490of 20,598
    Most Researched53
  • #10,843of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedSH2D2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Somatic mutations in tumor-infiltrating lymphocytes impact on antitumor immunity.
PMID: 39167601
Proc Natl Acad Sci U S A · 2024
1.00
2
The SH2D2A gene and susceptibility to multiple sclerosis.
PMID: 18554728
J Neuroimmunol · 2008
0.90
3
Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene.
PMID: 15129233
Genes Immun · 2004
0.80
4
The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster on human Chromosome 1.
PMID: 10752626
Immunogenetics · 2000
0.70
5
Transcriptional activation of the SH2D2A gene is dependent on a cyclic adenosine 5'-monophosphate-responsive element in the proximal SH2D2A promoter.
PMID: 15128801
J Immunol · 2004
0.60