CD4
CD4 molecule
Summary
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]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11064392 | 12:6,898,392 | A/G | upstream gene variant | — |
| rs2857229 | 12:6,900,616 | A/G | intron variant | — |
| rs11615628 | 12:6,903,631 | G/A | intron variant | — |
| rs200294737 | 12:6,909,305 | A/G | — | pathogenic |
| rs2365568 | 12:6,909,388 | A/G | — | benign |
| rs2255301 | 12:6,909,442 | T/C | intron variant | benign |
| rs7132941 | 12:6,913,051 | A/T | — | — |
| rs7136132 | 12:6,913,131 | T/G | intron variant | — |
| rs11575097 | 12:6,919,319 | G/C | intron variant | — |
| rs10849523 | 12:6,923,286 | C/G | intron variant | — |
| rs11064416 | 12:6,923,462 | C/A | — | uncertain significance |
| rs2542272271 | 12:6,924,108 | T/C | — | uncertain significance |
| rs28917504 | 12:6,924,122 | A/G | — | benign |
| rs10744715 | 12:6,925,149 | C/T | — | benign |
| rs150742570 | 12:6,925,290 | G/A | — | likely benign |
| rs11064419 | 12:6,925,294 | T/C | — | benign |
| rs10849525 | 12:6,925,313 | G/A | — | likely benign |
| rs28919568 | 12:6,925,322 | C/T | — | likely benign |
| rs28919569 | 12:6,925,325 | G/A | — | likely benign |
| rs28919570 | 12:6,925,407 | C/T | missense variant | pathogenic |
| rs1325448082 | 12:6,925,413 | A/G | — | uncertain significance |
| rs201475129 | 12:6,925,538 | G/A | — | likely benign |
| rs1366978901 | 12:6,926,322 | T/C | — | uncertain significance |
| rs782786009 | 12:6,926,360 | G/C | — | likely benign |
| rs1055141 | 12:6,926,363 | T/C | — | benign |
| rs201962054 | 12:6,926,370 | C/T | — | likely benign |
| rs201791740 | 12:6,926,395 | C/G | — | uncertain significance |
| rs34841304 | 12:6,926,420 | G/A | — | likely benign |
| rs1555118104 | 12:6,926,422 | T/C | — | uncertain significance |
| rs12226953 | 12:6,927,470 | T/C | — | benign |
| rs782212142 | 12:6,927,586 | G/A | — | pathogenic |
| rs2542289591 | 12:6,927,613 | C/A | — | uncertain significance |
| rs782745228 | 12:6,927,649 | G/A | — | uncertain significance |
| rs199617771 | 12:6,928,026 | G/A | — | benign |
| rs145973129 | 12:6,928,064 | A/G | — | uncertain significance |
| rs12821756 | 12:6,928,075 | T/C | — | benign |
| rs55764611 | 12:6,928,135 | T/G | — | benign |
| rs2542294674 | 12:6,928,465 | C/T | — | likely benign |
| rs782208003 | 12:6,928,466 | C/T | — | uncertain significance |
| rs28919579 | 12:6,928,486 | C/T | — | benign |
| rs7136817 | 12:6,928,586 | C/A | — | benign |
| rs7307451 | 12:6,928,587 | A/G | — | benign |
| rs3213427 | 12:6,928,747 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.