Entity Details

Primary name COL1A2
Entity type gene
Source Source Link

Details

PrimaryID1278
RefseqGeneNG_007405
SymbolCOL1A2
Namecollagen type I alpha 2 chain
Chromosome7
Location7q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1991-05-06
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsCO1A2_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0002020 protease binding
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005584 collagen type I trimer
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007266 Rho protein signal transduction
GO:0007596 blood coagulation
GO:0008217 regulation of blood pressure
GO:0019221 cytokine-mediated signaling pathway
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030282 bone mineralization
GO:0030674 protein-macromolecule adaptor activity
GO:0031012 extracellular matrix
GO:0032963 collagen metabolic process
GO:0042476 odontogenesis
GO:0042802 identical protein binding
GO:0043589 skin morphogenesis
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
GO:0050776 regulation of immune response
GO:0050900 leukocyte migration
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0070208 protein heterotrimerization
GO:0071230 cellular response to amino acid stimulus
GO:0085029 extracellular matrix assembly

Diseases

Show/Hide Table
Disease IDSourceNameDescription
166210 OMIMOsteogenesis imperfecta 2 (OI2)An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. The disease is caused by variants affecting the gene represented in this entry.
166220 OMIMOsteogenesis imperfecta 4 (OI4)An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry.
166200 OMIMOsteogenesis imperfecta 1 (OI1)An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry.
259420 OMIMOsteogenesis imperfecta 3 (OI3)An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry.
225320 OMIMEhlers-Danlos syndrome, cardiac valvular type (EDSCV)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. The disease is caused by variants affecting the gene represented in this entry.
617821 OMIMEhlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. The disease is caused by variants affecting the gene represented in this entry.

Interactions

62 interactions

InteractorPartnerSourcesPublicationsLink
COL1A2ITGA2HPRD, MINT17485091 2156854 details
COL1A2ZNF16UniProt21874239 details
COL1A2LOXmatrixdb21690299 details
COL1A2TFAP2AIntAct24835590 details
COL1A2TFAP2CIntAct24835590 details
COL1A2COL5A1matrixdb20979576 details
COL1A2SGTABioGRID, IntAct25416956 26871637 32296183 details
COL1A2UBQLN1BioGRID, IntAct25416956 26871637 32296183 details
COL1A2KCNIP4BioGRID, IntAct26871637 32296183 details
COL1A2SGTBBioGRID, IntAct26871637 details
COL1A2UBQLN2BioGRID, IntAct30442662 32296183 details
COL1A2EIF3FBioGRID, IntAct32296183 details
COL1A2MESDBioGRID, IntAct32296183 details
COL1A2SMARCD1BioGRID, IntAct32296183 details
COL1A2SHBGBioGRID, HPRD15862967 details
COL1A2MYOCBioGRID, HPRD16289162 details
COL1A2LIG4BioGRID22990118 details
COL1A2PDGFABioGRID8900172 details
COL1A2PDGFBBioGRID8900172 details
COL1A2SERPINB5BioGRID11788595 details
COL1A2DISC1IntAct31413325 details
COL1A2COL1A1BioGRID, matrixdb18375391 24981860 26848503 details
COL1A2HTN3BioGRID26544073 details
COL1A2COL5A3HPRD10722718 6501291 7346227 details
COL1A2MMP9HPRD9878537 details
COL1A2CD93HPRD1377218 details
COL1A2DCNHPRD1468447 2375748 9675033 details
COL1A2FN1HPRD8468356 details
COL1A2ITGB3HPRD1693626 details
COL1A2CD36HPRD10772928 details
COL1A2SPARCHPRD7034958 details
COL1A2VWFHPRD3490481 details
COL1A2BGNHPRD7852349 details
COL1A2LUMHPRD10734230 details
COL1A2TGFBIHPRD11867580 12034705 details
COL1A2ITGA2BHPRD11359786 details
COL1A2P4HBHPRD10329688 details
COL1A2APPHPRD7688497 details
COL1A2CD44HPRD1730778 details
COL1A2ZWINTBioGRID, IntAct26496610 details
COL1A2COMTBioGRID, IntAct26496610 details
COL1A2RAB5ABioGRID, IntAct26496610 details
COL1A2CDKN2AIPBioGRID, IntAct26496610 details
COL1A2YAF2BioGRID, IntAct28514442 details
COL1A2CAMKMTBioGRID, IntAct26186194 28514442 details
COL1A2ERAL1BioGRID, IntAct26186194 28514442 details
COL1A2TIMM44BioGRID, IntAct28514442 details
COL1A2PAX3BioGRID, MINT24981860 details
COL1A2PAN2BioGRID23398456 details
COL1A2EGFRBioGRID28065597 details
COL1A2SBF1BioGRID25659891 27880917 details
COL1A2CYLDBioGRID27591049 details
COL1A2RNF123BioGRID29676528 details
COL1A2PPP1CCBioGRID30344098 details
COL1A2CHMP4BBioGRID31586073 details
COL1A2NTPCRBioGRID24981860 details
COL1A2FOXO1BioGRID24981860 details
COL1A2COL3A1BioGRID24981860 details
COL1A2SMARCC1IntAct24434208 details
COL1A2SMARCB1IntAct24434208 details
COL1A2SMAD2MINT20429888 details
COL1A2SP1MINT20429888 details