CLEC12A

C-type lectin domain family 12 member A

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 signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3418366612:10,110,541T/G——
rs53358913112:10,124,264A/C—uncertain significance
rs14035769912:10,128,605G/Cintron variant—
rs128958125012:10,131,570C/G—uncertain significance
rs20201978912:10,132,039A/G—uncertain significance
rs14051360412:10,132,046A/G—uncertain significance
rs134416787612:10,132,059C/A—uncertain significance
rs7924691312:10,133,047A/G——
rs20177155212:10,133,235A/G—uncertain significance
rs249740796112:10,133,253T/G—uncertain significance
rs74904429012:10,133,288G/A—uncertain significance
rs249740876312:10,133,298C/A—uncertain significance
rs249740907912:10,133,327G/T—uncertain significance
rs74703132712:10,134,657G/C—uncertain significance
rs249741894512:10,134,666A/T—uncertain significance
rs37147953712:10,134,681T/A—uncertain significance
rs77137381112:10,134,695T/C—uncertain significance
rs14451380012:10,137,608T/C—likely benign
rs63655412:10,140,184T/Adownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.