COL9A2 collagen type IX alpha 2 chain

Gene ID: 1298, updated on 2-Nov-2024
Gene type: protein coding
Also known as: MED; EDM2; STL5; DJ39G22.4

Summary

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Epiphyseal dysplasia, multiple, 2 MedGen: C1838429OMIM: 600204GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	See labs
Stickler syndrome, type 5 MedGen: C3280342OMIM: 614284GeneReviews: Stickler Syndrome	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-10-09) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-10-09) ClinGen Genome Curation Page

Genomic context

Location:: 1p34.2

Sequence:: Chromosome: 1; NC_000001.11 (40300489..40317286, complement)

Total number of exons:: 35

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for COL9A2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
COL9A2 database
dbVar
Link from Gene to dbVar
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
Variation Viewer
Related Variants

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