CLEC1B
Chr 12C-type lectin domain family 1 member B
Also known as: 1810061I13Rik, CLEC2, PRO1384, QDED721
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
95 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 48 | 2 | 0 | 50 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 53 | 38 | 0 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CLEC1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools