• Gene id: 1278

Gene Summary

• Gene Symbol: COL1A2   Gene   UCSC   Ensembl
• Aliases: EDSARTH2, EDSCV, OI4
• Gene name: collagen type I alpha 2 chain
• Alternate names: collagen alpha-2(I) chain, alpha 2 type I procollagen, alpha 2(I) procollagen, alpha 2(I)-collagen, alpha-2 type I collagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, collagen, type I, alpha 2, epididymis secretory sperm b,
• Gene location: 7q21.3 (94394894: 94431226)     Exons: 28     NC_000007.14
• Gene summary(Entrez): This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutatio
• OMIM: 120160

Protein Summary

• Protein general information: P08123  
  • Name: Collagen alpha 2(I) chain (Alpha 2 type I collagen)
  • Length: 1366  
  • Mass: 129314
  • Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
• Sequence:

  MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGPPGLGG
  NFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKP
  GRPGERGVVGPQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRV
  GAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
  GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPS
  GEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPR
  GLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPD
  GNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
  GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGAR
  GAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGEN
  GVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQ
  GPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
  GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKH
  GNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPA
  GPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSA
  PSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
  ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLANYASQNITYHCKNS
  IAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLDIAPLDIG
  GADQEFFVDIGPVCFK

• Structural information:
  • Protein Domains: (1133..136-)
    NC1 (/note="Fibrillar-collagen)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00793"-)
  • Interpro: IPR008160  IPR000885  
  • Prosite: PS51461
  • PDB: 5CTD 5CTI 5CVA
  • PDBsum: 5CTD 5CTI 5CVA
  • DIP: 36079
  • STRING: ENSP00000297268
• Other Databases: GeneCards:  COL1A2  Malacards:  COL1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005584	collagen type I trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0048407	platelet-derived growth factor binding	IDA	molecular function
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: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: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: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: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: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: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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0070208	protein heterotrimerization	IEA	biological process
GO:0032963	collagen metabolic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0085029	extracellular matrix assembly	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0030282	bone mineralization	IEA	biological process
GO:0005584	collagen type I trimer	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0002020	protease binding	IPI	molecular function
GO:0005584	collagen type I trimer	IDA	cellular component
GO:0007266	Rho protein signal transduction	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005584	collagen type I trimer	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001501	skeletal system development	IMP	biological process
GO:0001501	skeletal system development	IMP	biological process
GO:0043589	skin morphogenesis	IMP	biological process
GO:0030674	protein-macromolecule adaptor activity	IMP	molecular function
GO:0030199	collagen fibril organization	IMP	biological process
GO:0005584	collagen type I trimer	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001568	blood vessel development	IMP	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0005201	extracellular matrix structural constituent	NAS	molecular function
GO:0001501	skeletal system development	IMP	biological process
GO:0042476	odontogenesis	NAS	biological process
GO:0030199	collagen fibril organization	IMP	biological process
GO:0005584	collagen type I trimer	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa04611	Platelet activation
hsa04926	Relaxin signaling pathway
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteoporosis	KEGG:H01593
Ehlers-Danlos syndrome cardiac valvular type	KEGG:H02241
Ehlers-Danlos syndrome arthrochalasia type	KEGG:H02243
Osteogenesis imperfecta	KEGG:H00506
Osteoporosis	KEGG:H01593
Ehlers-Danlos syndrome cardiac valvular type	KEGG:H02241
Ehlers-Danlos syndrome arthrochalasia type	KEGG:H02243
Intracranial aneurysm	PMID:14739420
Osteogenesis imperfecta	PMID:2567784
Osteogenesis imperfecta	PMID:16705691
Osteogenesis imperfecta	PMID:21341209
Ehlers-Danlos syndrome	PMID:15077201
Heart valve disease	PMID:16816023
Heart valve disease	PMID:15077201
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R