CLEC1B

Chr 12

C-type lectin domain family 1 member B

Also known as: 1810061I13Rik, CLEC2, PRO1384, QDED721

NCBI Gene: 51266 ENSG00000165682 UniProt: Q9P126 OMIM: 606783

CLEC1B encodes a C-type lectin-like receptor that serves as a platelet receptor for podoplanin and plays essential roles in blood/lymphatic vessel separation, thrombus formation, and cerebrovascular development during embryogenesis. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), indicating that complete loss of protein function is likely incompatible with normal development. Mutations in CLEC1B would be expected to cause severe developmental abnormalities affecting the vascular system, though specific human disease associations have not yet been established.

OMIM ResearchSummary from RefSeq, UniProt

Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.45

LOEUF

Multiple*

Mechanism· predicted