COLEC12 collectin subfamily member 12
Gene ID: 81035, updated on 17-Jun-2024Gene type: protein coding
Also known as: CLP1; NSR2; SRCL; SCARA4
- See all available tests in GTR for this gene
- Go to complete Gene record for COLEC12
- Go to Variation Viewer for COLEC12 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.32
- Sequence:
- Chromosome: 18; NC_000018.10 (316737..500701, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COLEC12 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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