HAVCR2 Chromosome 5
Hepatitis A virus cellular receptor 2
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What This Gene Does
The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
V-set domain containing
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000135077
Associated Conditions (2)
Subcutaneous panniculitis-like T-cell lymphoma
HAVCR2-related disorder
Key Variants
RS138681649
Conflicting classifications of pathogenicity
Health Risk
RS184868814
Conflicting classifications of pathogenicity
Subcutaneous panniculitis-like T-cell lymphoma, HAVCR2-related disorder, Subcutaneous panniculitis-like T-cell lymphoma
Health Risk
RS35960726
Conflicting classifications of pathogenicity
Subcutaneous panniculitis-like T-cell lymphoma, Subcutaneous panniculitis-like T-cell lymphoma
Health Risk
RS773895230
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138681649 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184868814 | Health Risk | Conflicting classifications of pathogenicity | Subcutaneous panniculitis-like T-cell lymphoma, HAVCR2-related disorder, Subcutaneous panniculitis-like T-cell lymphoma |
| RS35960726 | Health Risk | Conflicting classifications of pathogenicity | Subcutaneous panniculitis-like T-cell lymphoma, Subcutaneous panniculitis-like T-cell lymphoma |
| RS773895230 | Health Risk | Conflicting classifications of pathogenicity | — |