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COL9A2 collagen, type IX, alpha 2 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001852 Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. ORF Sequence $600.30
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Gene Symbol COL9A2
Entrez Gene ID 1298
Full Name collagen, type IX, alpha 2
Synonyms DJ39G22.4, EDM2, MED
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p33-p32

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].
Disorder

MIM: 120260

Epiphyseal dysplasia, multiple, 2, 600204 (3); {Intervertebral

mRNA Protein Product Sequence Price Select
NM_001852, 31083125 NP_001843, 11386161 collagen alpha-2(IX) chain precursor Full Length $820.99
ORF Sequence $600.30
KEGG
hsa04974Protein digestion and absorption
Reactome
REACT_18334NCAM signaling for neurite out-growth
REACT_111102Signal Transduction
REACT_18312NCAM1 interactions
REACT_118779Extracellular matrix organization
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_18266Axon guidance
REACT_111045Developmental Biology
REACT_16888Signaling by PDGF
REACT_120729Collagen formation
Homo sapiens (human)COL9A2NP_001843.1
Canis lupus familiaris (dog)COL9A2NP_001184099.1
Mus musculus (house mouse)Col9a2NP_031767.2
Rattus norvegicus (Norway rat)Col9a2NP_001102145.1
Gallus gallus (chicken)COL9A2XP_001233987.2
Danio rerio (zebrafish)col9a2NP_997744.1
GeneCards COL9A2
UniProt Q14055
MIM 120260
Ensembl ENSG00000049089
HGNC 2218
HPRD 00373

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
collagen alpha-2(IX) chain
Names
collagen alpha-2(IX) chain
alpha 2 type IX collagen
collagen IX, alpha-2 polypeptide

Interactant

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