KLRC1

Chr 12

killer cell lectin like receptor C1

Also known as: CD159A, NKG2, NKG2A

NCBI Gene: 3821 ENSG00000134545 UniProt: P26715

The KLRC1 protein functions as an immune inhibitory receptor that forms complexes with KLRD1 to recognize HLA-E molecules, enabling natural killer cells and T cells to distinguish self from non-self and prevent autoimmune responses. This gene is loss-of-function tolerant (pLI = 0.00004, LOEUF = 1.31), and mutations are not currently associated with established Mendelian disease phenotypes despite its role in immune regulation. The gene's tolerance to loss-of-function variants suggests that KLRC1 deficiency may not cause severe developmental or immunological disorders in humans.

ResearchSummary from RefSeq, UniProt

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.31

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)