COLEC11: Collectin Subfamily Member 11
A key player in the lectin complement pathway and embryonic development
Gene Information Card
| Symbol | COLEC11 |
|---|---|
| Full Name | Collectin Subfamily Member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 78989 ncbi.nlm.nih.gov/gene/78989 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9BWP8 |
| OMIM ID | 612502 |
| HGNC ID | 17213 |
| Aliases | CL-K1, CL-11, SCGF, 3MC2 |
Description
COLEC11 encodes collectin-11 (CL-K1), a C-type lectin that functions as a pattern recognition molecule in the lectin complement pathway. It binds to carbohydrate ligands on pathogens and apoptotic cells, activating the complement system via MASP-1/3. The protein is also critical for neural crest cell migration and embryonic development, particularly of the craniofacial skeleton, heart, and kidneys.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3MC syndrome 2 (3MC2) | Biallelic loss-of-function mutations in COLEC11 impair collectin-11 secretion or ligand binding, disrupting complement activation and neural crest migration. | OMIM #612502; PMID: 21258343 |
| Congenital heart disease | COLEC11 variants are associated with structural heart defects, likely due to defective neural crest contribution to cardiac outflow tract. | PMID: 21258343; ClinVar |
| Recurrent infections | Deficient lectin complement pathway activity due to COLEC11 mutations increases susceptibility to bacterial and viral infections. | PMID: 21258343 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Lung | 4.7 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line |
| HEK293 | 7.8 | Embryonic kidney line |
| A549 | 3.5 | Lung carcinoma line |
| K562 | 1.1 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.754C>T (p.Arg252Cys) | Missense | Rare | Reduced secretion and ligand binding |
| c.169C>T (p.Arg57*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported COLEC11 mutations are loss-of-function (nonsense, frameshift, missense affecting secretion), leading to 3MC syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been described for COLEC11.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lectin complement activation pathway (Reactome: R-HSA-2855086)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Collectin-11 (CL-K1) is a 271-amino acid protein composed of an N-terminal cysteine-rich domain, a collagen-like region, and a C-type lectin domain. It forms homotrimers and higher-order oligomers. The protein is secreted primarily by the liver and circulates in serum as a complex with MASP-1/3. It recognizes mannose, fucose, and GlcNAc residues on microbial surfaces and apoptotic cells, initiating complement activation. In development, it guides neural crest cell migration by interacting with heparan sulfate proteoglycans.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COLEC11 Knockout HEK293 Cell Line | EDJ-KQ11935 | Human | 78989 | Details Get a Quote |
| COLEC11 Knockout HeLa Cell Line | EDJ-KQ57120 | Human | 78989 | Details Get a Quote |
| COLEC11 Knockout A-549 Cell Line | EDJ-KQ65634 | Human | 78989 | Details Get a Quote |
| COLEC11 Knockout HCT 116 Cell Line | EDJ-KQ74057 | Human | 78989 | Details Get a Quote |
