• Gene id: 1299

Gene Summary

• Gene Symbol: COL9A3   Gene   UCSC   Ensembl
• Aliases: DJ885L7.4.1, EDM3, IDD, MED
• Gene name: collagen type IX alpha 3 chain
• Alternate names: collagen alpha-3(IX) chain, collagen IX, alpha-3 polypeptide, collagen type IX proteoglycan, collagen, type IX, alpha 3,
• Gene location: 20q13.33 (62817049: 62841158)     Exons: 33     NC_000020.11
• 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. Mutations i
• OMIM: 120270

Protein Summary

• Protein general information: Q14050  
  • Name: Collagen alpha 3(IX) chain
  • Length: 684  
  • Mass: 63616
• Sequence:

  MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGE
  AGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLP
  GPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSV
  GLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEP
  GMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMP
  GERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLP
  GDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRI
  RELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGD
  RGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGV
  GEKSGSRSS

• Structural information:
  • Interpro: IPR008160  
  • PDB: 5CTD 5CTI 5CVA 5CVB
  • PDBsum: 5CTD 5CTI 5CVA 5CVB
  • STRING: ENSP00000341640
• Other Databases: GeneCards:  COL9A3  Malacards:  COL9A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0008585	female gonad development	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0008584	male gonad development	IBA	biological process
GO:0005594	collagen type IX trimer	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0005594	collagen type IX trimer	TAS	cellular component
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: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
Multiple epiphyseal dysplasia	KEGG:H00476
Osteochondrodysplasia	PMID:10090888
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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