COL1A2 collagen type I alpha 2 chain
Gene ID: 1278, updated on 3-Nov-2024Gene type: protein coding
Also known as: OI4; EDSCV; EDSARTH2
- See all available tests in GTR for this gene
- Go to complete Gene record for COL1A2
- Go to Variation Viewer for COL1A2 variants
Summary
This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | See labs |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | See labs |
| Ehlers-Danlos syndrome, cardiac valvular type | See labs |
| Framingham Heart Study genome-wide association: results for pulmonary function measures. GeneReviews: Not available | |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide association study of intelligence: additive effects of novel brain expressed genes. GeneReviews: Not available | |
| Linkage and association of successful aging to the 6q25 region in large Amish kindreds. GeneReviews: Not available | |
| Osteogenesis imperfecta MedGen: C0029434GeneReviews: COL1A1/2 Osteogenesis Imperfecta | See labs |
| Osteogenesis imperfecta type III | See labs |
| Osteogenesis imperfecta with normal sclerae, dominant form | See labs |
| Osteogenesis imperfecta, perinatal lethal | See labs |
| Osteoporosis | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q21.3
- Sequence:
- Chromosome: 7; NC_000007.14 (94394895..94431227)
- Total number of exons:
- 52
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL1A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Osteogenesis Imperfecta Mutation Database COL1A2
- 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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