COL3A1 collagen type III alpha 1 chain

Gene ID: 1281, updated on 21-Mar-2023
Gene type: protein coding
Also known as: EDS4A; EDSVASC; PMGEDSV

Summary

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Ehlers-Danlos syndrome, type 4 MedGen: C0268338OMIM: 130050GeneReviews: Vascular Ehlers-Danlos Syndrome	See labs
Polymicrogyria with or without vascular-type ehlers-danlos syndrome MedGen: C5193040OMIM: 618343GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2017-01-12) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-01-12) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 2q32.2

Sequence:: Chromosome: 2; NC_000002.12 (188974373..189012746)

Total number of exons:: 51

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for COL3A1 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
Database of osteogenesis imperfecta and type III collagen mutations
dbVar
Link from Gene to dbVar
Ehlers-Danlos Syndrome Variant Database COL3A1
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.