COLEC11

Chr 2AR

collectin subfamily member 11

Also known as: 3MC2, CL-11, CL-K1-I, CL-K1-II, CL-K1-IIa, CL-K1-IIb, CLK1

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

3MC syndrome 2MIM #265050
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
0.82
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.018
Z-score 2.04
OE 0.39 (0.200.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.56Z-score
OE missense 0.88 (0.771.01)
159 obs / 180.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.200.82)
00.351.4
Missense OE?0.88 (0.771.01)
00.61.4
Synonymous OE?1.13
01.21.6
LoF obs/exp: 5 / 12.9Missense obs/exp: 159 / 180.3Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COLEC11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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