SH2D1A Chromosome X
SH2 domain containing 1A
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What This Gene Does
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]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000183918
Associated Conditions (8)
X-linked lymphoproliferative disease due to SH2D1A deficiency
Lymphoproliferative disorder
Autoinflammatory syndrome
X-linked lymphoproliferative syndrome
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Key Variants
RS111033630
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, Lymphoproliferative disorder
Health Risk
RS1303880423
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS1484311033
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS148554414
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS148700291
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS2522797252
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS371553659
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS774701387
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS775759946
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome
Health Risk
RS954824608
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS111033625
Likely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
RS1556619319
Likely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111033630 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, Lymphoproliferative disorder |
| RS1303880423 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1484311033 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS148554414 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS148700291 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522797252 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS371553659 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS774701387 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS775759946 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome |
| RS954824608 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033625 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1556619319 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1556620697 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2060052777 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147531380 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS2522814914 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522818944 | Health Risk | Likely pathogenic | — |
| RS111033623 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033624 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033626 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033628 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033629 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1556620698 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556620706 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1569527111 | Health Risk | Pathogenic | X-linked lymphoproliferative syndrome, X-linked lymphoproliferative syndrome |
| RS1603236465 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS1603238847 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, Thyroid cancer, nonmedullary |
| RS2147531326 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147531379 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147534019 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147534047 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147534056 | Health Risk | Pathogenic | Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome |
| RS2522797198 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522797441 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522814882 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522815020 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522819003 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2522819045 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS587777612 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS746035909 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS2147519353 | Health Risk | Pathogenic/Likely pathogenic | X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency |