COL1A2

Description		collagen type I alpha 2 chain
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GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Fibrillar Collagen Trimer Collagen Type I Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Extracellular Exosome
	Molecular Function	Protease Binding Extracellular Matrix Structural Constituent Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Protein-macromolecule Adaptor Activity Identical Protein Binding SMAD Binding Metal Ion Binding Platelet-derived Growth Factor Binding
	Biological Process	Skeletal System Development Blood Vessel Development Transforming Growth Factor Beta Receptor Signaling Pathway Rho Protein Signal Transduction Regulation Of Blood Pressure Collagen Fibril Organization Bone Mineralization Collagen Metabolic Process Odontogenesis Skin Morphogenesis Animal Organ Development Protein Heterotrimerization Cellular Response To Amino Acid Stimulus Extracellular Matrix Assembly
Pathways		GPVI-mediated activation cascade Collagen degradation Collagen degradation Fibronectin matrix formation Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Assembly of collagen fibrils and other multimeric structures Cell surface interactions at the vascular wall Integrin cell surface interactions Integrin cell surface interactions SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Anchoring fibril formation Crosslinking of collagen fibrils Syndecan interactions Non-integrin membrane-ECM interactions ECM proteoglycans ECM proteoglycans Scavenging by Class A Receptors GP1b-IX-V activation signalling Interleukin-4 and Interleukin-13 signaling Platelet Adhesion to exposed collagen Platelet Adhesion to exposed collagen Platelet Aggregation (Plug Formation) MET activates PTK2 signaling Collagen chain trimerization Enhanced cleavage of VWF variant by ADAMTS13 Enhanced binding of GP1BA variant to VWF multimer:collagen Defective VWF cleavage by ADAMTS13 variant Defective VWF binding to collagen type I Defective binding of VWF variant to GPIb:IX:V Developmental Lineage of Pancreatic Ductal Cells
Drugs
Diseases		Osteogenesis imperfecta Ehlers-Danlos syndrome (EDS), including: EDS classical type (EDS1/2); EDS hypermobility type (EDS3); EDS vascular type (EDS4); EDS kyphoscoliosis type (EDS6); EDS arthrochalasia type (EDS7A/7B); EDS dermatospraxis type (EDS7C); EDS autosomal recessive cardiac valvular form (EDSCV); EDS musculocontractural type (EDSMC); EDS progeroid form (EDSP); Tenascin-X deficiency (TNXD); Brittle cornea syndrome (EDS6B); EDS-like spondylocheiro dysplasia (SCD-EDS)
GWAS		Aging ( 22773346) Appendicular lean mass ( 33097823) Heel bone mineral density ( 30598549) Immune reponse to smallpox (secreted IL-12p40) ( 22610502) Intelligence ( 22449649) Low bone mineral density (hip) ( 26235824) Low bone mineral density (spine) ( 26235824) Mean forced vital capacity from 2 exams ( 17903307) Post bronchodilator FEV1 ( 26634245) PR interval in Tripanosoma cruzi seropositivity ( 24324551)
Novel Interacting Genes		31 novel interacting genes: APP BGN CD36 CD44 CD93 COL5A3 DCN EIF3F FN1 ITGA2 ITGA2B ITGB3 KCNIP4 LIG4 LUM MESD MMP9 MYOC P4HB PDGFA PDGFB SERPINB5 SGTA SGTB SHBG SMARCD1 SPARC TGFBI UBQLN1 UBQLN2 VWF
Interacting Genes		31 interacting genes: APP BGN CD36 CD44 CD93 COL5A3 DCN EIF3F FN1 ITGA2 ITGA2B ITGB3 KCNIP4 LIG4 LUM MESD MMP9 MYOC P4HB PDGFA PDGFB SERPINB5 SGTA SGTB SHBG SMARCD1 SPARC TGFBI UBQLN1 UBQLN2 VWF
Entrez ID		1278
HPRD ID		00363
Ensembl ID		ENSG00000164692
Uniprot IDs		A0A0S2Z3H5 P08123
PDB IDs		5CTD 5CTI 5CVA 6JEC
Enriched GO Terms of Interacting Partners?		Collagen Binding Extracellular Matrix Binding Platelet Alpha Granule Lumen Positive Regulation Of Cell Migration Extracellular Matrix Extracellular Matrix Structural Constituent Positive Regulation Of Cell Motility Positive Regulation Of Locomotion Integrin Binding Cell Surface Cell-substrate Adhesion Extracellular Region Platelet Alpha Granule Membrane Golgi Lumen Cell-matrix Adhesion Positive Regulation Of Fibroblast Proliferation Regulation Of Cell Migration Extracellular Space Identical Protein Binding Regulation Of Cell Motility Positive Regulation Of Cell-substrate Adhesion Regulation Of Locomotion Cell Adhesion Positive Regulation Of Cell Adhesion Extracellular Matrix Organization Extracellular Structure Organization Regulation Of ERK1 And ERK2 Cascade Regulation Of Fibroblast Proliferation Positive Regulation Of Response To Endoplasmic Reticulum Stress Regulation Of Cell Adhesion Regulation Of Glomerular Mesangial Cell Proliferation Positive Regulation Of ERK1 And ERK2 Cascade Angiogenesis Extracellular Matrix Structural Constituent Conferring Compression Resistance Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Platelet-derived Growth Factor Receptor Binding Regulation Of Cell-substrate Adhesion Platelet-derived Growth Factor Complex Negative Regulation Of Phosphatidylinositol Biosynthetic Process TRC Complex Positive Regulation Of ERAD Pathway Platelet Alpha Granule Positive Regulation Of Cell Communication Positive Regulation Of Leukocyte Migration Regulation Of Cellular Component Organization Regulation Of Smooth Muscle Cell Migration Integrin AlphaIIb-beta3 Complex Positive Regulation Of Metanephric Mesenchymal Cell Migration Positive Regulation Of Metanephric Mesenchymal Cell Migration By Platelet-derived Growth Factor Receptor-beta Signaling Pathway Regulation Of Body Fluid Levels
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