CLEC4E
C-type lectin domain family 4 member E
Summary
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369080920 | 12:8,687,252 | G/T | — | uncertain significance |
| rs2136396493 | 12:8,687,328 | C/T | — | uncertain significance |
| rs756443256 | 12:8,687,395 | C/T | — | uncertain significance |
| rs10841847 | 12:8,687,812 | A/C | — | — |
| rs371322474 | 12:8,688,711 | C/T | — | uncertain significance |
| rs55808867 | 12:8,688,731 | C/A | — | uncertain significance |
| rs777047230 | 12:8,688,758 | A/G | — | uncertain significance |
| rs189844301 | 12:8,689,103 | G/A | intron variant | — |
| rs201571010 | 12:8,689,778 | G/A | — | uncertain significance |
| rs770189945 | 12:8,689,797 | T/C | — | uncertain significance |
| rs541255996 | 12:8,689,838 | A/G | — | likely benign |
| rs202128779 | 12:8,691,860 | T/C | — | uncertain significance |
| rs1339096358 | 12:8,691,878 | C/T | — | uncertain significance |
| rs1278201907 | 12:8,691,891 | T/C | — | uncertain significance |
| rs749293813 | 12:8,693,390 | T/G | — | uncertain significance |
| rs11046143 | 12:8,695,017 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.