COLEC12: Collectin Subfamily Member 12 – Scavenger Receptor with C-Type Lectin Domain
A comprehensive biomedical overview of COLEC12, including gene characteristics, expression, mutations, and disease associations.
Gene Information Card
| Symbol | COLEC12 |
|---|---|
| Full Name | Collectin Subfamily Member 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 81035 ncbi.nlm.nih.gov/gene/81035 |
| Ensembl ID | ENSG00000134321 |
| UniProt ID | Q5KU26 |
| OMIM ID | 607612 |
| HGNC ID | 16016 |
| Aliases | CLP1, SCARA4, SRCL |
Description
COLEC12 encodes a member of the collectin family, characterized by a collagen-like domain and a C-type lectin domain. The protein functions as a scavenger receptor, binding to carbohydrates and oxidized low-density lipoproteins, and is involved in pathogen recognition, clearance of apoptotic cells, and modulation of inflammatory responses. It is expressed in various tissues, particularly in the placenta, lung, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | COLEC12 mediates uptake of oxidized LDL by macrophages, contributing to foam cell formation and plaque development. | PMID: 14525957; NCBI GeneRIF |
| Ischemic Stroke | Polymorphisms in COLEC12 have been associated with increased risk of ischemic stroke in certain populations. | PMID: 23348760; ClinVar |
| Infectious Diseases | Acts as a pattern recognition receptor for bacteria and viruses, facilitating opsonization and clearance. | PMID: 16920924; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 48.2 | High |
| Lung | 32.1 | High |
| Heart | 22.5 | Medium |
| Liver | 12.3 | Medium |
| Spleen | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 35.0 | Endothelial expression |
| THP-1 (monocyte) | 18.5 | Upregulated upon differentiation to macrophages |
| A549 (lung carcinoma) | 12.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124G>A (p.Arg375His) | Missense | 0.01% (gnomAD) | Altered ligand binding affinity; reported in ClinVar as uncertain significance |
| c.178C>T (p.Arg60Trp) | Missense | 0.005% | Potential impact on collagen domain stability |
| c.2041A>G (p.Ile681Val) | Missense | 0.02% | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COLEC12.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity (GO:0005044) | • carbohydrate binding (GO:0030246) |
| • mannose binding (GO:0005537) | • plasma membrane (GO:0005886) |
| • immune response (GO:0006955) | • phagocytosis (GO:0006911) |
Pathways
• Scavenger receptors in atherosclerosis (Reactome: R-HSA-3000471)
• Innate immune system (Reactome: R-HSA-168249)
• Clearance of apoptotic cells (Reactome: R-HSA-3000480)
Protein Summary
The COLEC12 protein (UniProt Q5KU26) is a 742-amino acid type II transmembrane glycoprotein. It contains an N-terminal cytoplasmic domain, a transmembrane region, a collagen-like domain, and a C-type lectin domain. It forms trimers and functions as a scavenger receptor, recognizing carbohydrate patterns on pathogens and oxidized lipids. The protein is involved in innate immunity, clearance of apoptotic cells, and lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COLEC12 Knockout HEK293 Cell Line | EDJ-KQ2802 | Human | 81035 | Details Get a Quote |
| COLEC12 Knockout HeLa Cell Line | EDJ-KQ57366 | Human | 81035 | Details Get a Quote |
| COLEC12 Knockout A-549 Cell Line | EDJ-KQ65872 | Human | 81035 | Details Get a Quote |
| COLEC12 Knockout HCT 116 Cell Line | EDJ-KQ74299 | Human | 81035 | Details Get a Quote |
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