COLEC12 Gene Summary [Human]
This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]
Details
| Type | Processed Transcript |
| Official Symbol | COLEC12 |
| Official Name | collectin subfamily member 12 [Source:HGNC Symbol;Acc:HGNC:16016] |
| Ensembl ID | ENSG00000158270 |
| Bio databases IDs | |
| Aliases | collectin subfamily member 12 |
| Synonyms | CL-P1, collectin sub-family member 12, NSR2, SCARA4, SRCL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COLEC12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- signaling receptor activity
- scavenger receptor
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- carbohydrate recognition domain
- Lectin C-type domain
- Collagen triple helix repeat (20 copies)
- low-density lipoprotein binding
- protein binding
- carbohydrate binding
- transmembrane receptor
- Laminin Domain I
Pathways
Biological processes and signaling networks where the COLEC12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometriosis
- Duchenne muscular dystrophy
- schizophrenia
- autosomal dominant Emery-Dreifuss muscular dystrophy
- Hutchinson-Gilford progeria syndrome
- metastatic colorectal cancer
- drusen
- juvenile dermatomyositis
- self-abusive behavior
- dementia
role in cell
- expression in
- binding
- phagocytosis by
- phagocytosis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- endocytic vesicle membrane
- cell surface
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COLEC12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phagocytosis, recognition
- cellular response to exogenous dsRNA
- innate immune response
- toll-like receptor 3 signaling pathway
- defense response
- defense response to bacterium
- carbohydrate mediated signaling
Cellular Component
Where in the cell the gene product is active
- extracellular space
- collagen
- membrane
- endocytic vesicle membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- scavenger receptor activity
- low-density lipoprotein particle binding
- galactose binding