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 chain

Tissue specificity

Tissue enhanced (brain, pituitary gland)

Subcell location

Nucleoplasm, Vesicles

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
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 (40300489 - 40317813)

Ensembl ID

ENSG00000049089  (ver. 103.38)

Orthologs

Mouse Col9a2: ENSMUSG00000028626

UniProt

Q14055

neXtProt

NX_Q14055

Human splice variants
Mouse splice variants