COL9A2

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]

Description

collagen, type IX, alpha 2

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

1:p34.2 (40300487 - 40317816)

Ensembl ID

ENSG00000049089  (ver. 84.38)

Orthologs

Mouse Col9a2: ENSMUSG00000028626

UniProt

Q14055

neXtProt

NX_Q14055

Human splice variants
Mouse splice variants