• Gene id: 1298

Gene Summary

• Gene Symbol: COL9A2   Gene   UCSC   Ensembl
• Aliases: DJ39G22.4, EDM2, MED, STL5
• Gene name: collagen type IX alpha 2 chain
• Alternate names: collagen alpha-2(IX) chain, alpha 2 type IX collagen, collagen IX, alpha-2 polypeptide, collagen, type IX, alpha 2,
• Gene location: 1p34.2 (40317652: 40300486)     Exons: 35     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 120326

Protein Summary

• Protein general information: Q14055  
  • Name: Collagen alpha 2(IX) chain
  • Length: 689  
  • Mass: 65131
• Sequence:

  MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAGPPGPKGEPGKAGPDG
  PDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGP
  PGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGHAGKRGILGDPGHQGKPGPKGDVGASGEQGIP
  GPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
  GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPR
  GEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQGLPGVKGDKGSPGKTGPRGKVGDPGVAGLP
  GEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHI
  VDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
  GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAY
  ASARLTEPGSIKGP

• Structural information:
  • Interpro: IPR008160  
  • PDB: 5CTD 5CTI 5CVA 5CVB
  • PDBsum: 5CTD 5CTI 5CVA 5CVB
  • STRING: ENSP00000361834
• Other Databases: GeneCards:  COL9A2  Malacards:  COL9A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005594	collagen type IX trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0005594	collagen type IX trimer	TAS	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IC	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005594	collagen type IX trimer	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Multiple epiphyseal dysplasia	KEGG:H00476
Stickler syndrome	KEGG:H02072
Multiple epiphyseal dysplasia	KEGG:H00476
Stickler syndrome	KEGG:H02072
Osteochondrodysplasia	PMID:8528240
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq