CD4 Chromosome 12
CD4 molecule
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What This Gene Does
This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"CD molecules|V-set domain containing|C2-set domain containing"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000010610
Associated Conditions (1)
Immunodeficiency 79
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200294737 | Health Risk | Pathogenic | Immunodeficiency 79, Immunodeficiency 79 |
| RS782212142 | Health Risk | Pathogenic | Immunodeficiency 79, Immunodeficiency 79 |