| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1278 |
Name | COL1A2 |
Synonym | OI4;collagen, type I, alpha 2;COL1A2;collagen, type I, alpha 2 |
Definition | alpha 2(I)-collagen|alpha-2 type I collagen|collagen I, alpha-2 polypeptide|collagen alpha-2(I) chain|collagen of skin, tendon and bone, alpha-2 chain|type I procollagen |
Position | 7q22.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Signaling by PDGF;Reactome;REACT:16888 |
Pathway | Amoebiasis;KEGG PATHWAY;hsa05146 |
Pathway | IL4-mediated signaling events;PID Curated;200018 |
Pathway | Validated transcriptional targets of AP1 family members Fra1 and Fra2;PID Curated;200044 |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | Endothelins;PID Curated;200004 |
Pathway | Integrin cell surface interactions;PID Reactome;500004 |
Pathway | Protein digestion and absorption;KEGG PATHWAY;hsa04974 |
Pathway | Integrin cell surface interactions;Reactome;REACT:13552 |
Pathway | VEGFR3 signaling in lymphatic endothelium;PID Curated;200188 |
Pathway | Hemostasis;Reactome;REACT:604 |
Pathway | AP-1 transcription factor network;PID Curated;200118 |
Pathway | ECM-receptor interaction;KEGG PATHWAY;hsa04512 |
Pathway | Axon guidance;Reactome;REACT:18266 |
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Pathway | Validated targets of C-MYC transcriptional repression;PID Curated;200171 |
Pathway | C-MYB transcription factor network;PID Curated;200130 |
Pathway | Regulation of nuclear SMAD2/3 signaling;PID Curated;200002 |
Disease | brain aneurysm;GAD |
Disease | osteogenesis imperfecta;GAD |
Disease | bone mass;GAD |
Disease | Osteogenesis imperfecta, 4 clinical forms;OMIM |
Disease | Ehlers-Danlos syndrome, cardiac valvular form;OMIM |
Disease | systemic sclerosis;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Osteoporosis;GAD |
Disease | fractures;GAD |
Disease | Osteoporosis, postmenopausal;OMIM |
Disease | mean forced vital capacity from 2 exams;GAD |
Disease | METABOLIC;GAD |
Disease | Ehlers-Danlos syndrome, type VIIB;OMIM |
Disease | Mean forced vital capacity from 2 exams;NHGRI |
Disease | blood pressure, arterial hypertension;GAD |
Disease | intracranial aneurysms;GAD |
External Links | |
Links to Entrez Gene | 1278 |
Links to all GeneRIF Items | 1278 |
Links to iHOP | 1278 |
Sequence Information | |
Nucleotide Sequence | >1278 : length: 4101 atgctcagctttgtggatacgcggactttgttgctgcttgcagtaaccttatgcctagca acatgccaatctttacaagaggaaactgtaagaaagggcccagccggagatagaggacca cgtggagaaaggggtccaccaggccccccaggcagagatggtgaagatggtcccacaggc cctcctggtccacctggtcctcctggcccccctggtctcggtgggaactttgctgctcag tatgatggaaaaggagttggacttggccctggaccaatgggcttaatgggacctagaggc ccacctggtgcagctggagccccaggccctcaaggtttccaaggacctgctggtgagcct ggtgaacctggtcaaactggtcctgcaggtgctcgtggtccagctggccctcctggcaag gctggtgaagatggtcaccctggaaaacccggacgacctggtgagagaggagttgttgga ccacagggtgctcgtggtttccctggaactcctggacttcctggcttcaaaggcattagg ggacacaatggtctggatggattgaagggacagcccggtgctcctggtgtgaagggtgaa cctggtgcccctggtgaaaatggaactccaggtcaaacaggagcccgtgggcttcctggt gagagaggacgtgttggtgcccctggcccagctggtgcccgtggcagtgatggaagtgtg ggtcccgtgggtcctgctggtcccattgggtctgctggccctccaggcttcccaggtgcc cctggccccaagggtgaaattggagctgttggtaacgctggtcctgctggtcccgccggt ccccgtggtgaagtgggtcttccaggcctctccggccccgttggacctcctggtaatcct ggagcaaacggccttactggtgccaagggtgctgctggccttcccggcgttgctggggct cccggcctccctggaccccgcggtattcctggccctgttggtgctgccggtgctactggt gccagaggacttgttggtgagcctggtccagctggctccaaaggagagagcggtaacaag ggtgagcccggctctgctgggccccaaggtcctcctggtcccagtggtgaagaaggaaag agaggccctaatggggaagctggatctgccggccctccaggacctcctgggctgagaggt agtcctggttctcgtggtcttcctggagctgatggcagagctggcgtcatgggccctcct ggtagtcgtggtgcaagtggccctgctggagtccgaggacctaatggagatgctggtcgc cctggggagcctggtctcatgggacccagaggtcttcctggttcccctggaaatatcggc cccgctggaaaagaaggtcctgtcggcctccctggcatcgacggcaggcctggcccaatt ggcccagctggagcaagaggagagcctggcaacattggattccctggacccaaaggcccc actggtgatcctggcaaaaacggtgataaaggtcatgctggtcttgctggtgctcggggt gctccaggtcctgatggaaacaatggtgctcagggacctcctggaccacagggtgttcaa ggtggaaaaggtgaacagggtccccctggtcctccaggcttccagggtctgcctggcccc tcaggtcccgctggtgaagttggcaaaccaggagaaaggggtctccatggtgagtttggt ctccctggtcctgctggtccaagaggggaacgcggtcccccaggtgagagtggtgctgcc ggtcctactggtcctattggaagccgaggtccttctggacccccagggcctgatggaaac aagggtgaacctggtgtggttggtgctgtgggcactgctggtccatctggtcctagtgga ctcccaggagagaggggtgctgctggcatacctggaggcaagggagaaaagggtgaacct ggtctcagaggtgaaattggtaaccctggcagagatggtgctcgtggtgctcctggtgct gtaggtgcccctggtcctgctggagccacaggtgaccggggcgaagctggggctgctggt cctgctggtcctgctggtcctcggggaagccctggtgaacgtggtgaggtcggtcctgct ggccccaatggatttgctggtcctgctggtgctgctggtcaacctggtgctaaaggagaa agaggagccaaagggcctaagggtgaaaacggtgttgttggtcccacaggccccgttgga gctgctggcccagctggtccaaatggtccccccggtcctgctggaagtcgtggtgatgga ggcccccctggtatgactggtttccctggtgctgctggacggactggtcccccaggaccc tctggtatttctggccctcctggtccccctggtcctgctgggaaagaagggcttcgtggt cctcgtggtgaccaaggtccagttggccgaactggagaagtaggtgcagttggtccccct ggcttcgctggtgagaagggtccctctggagaggctggtactgctggacctcctggcact ccaggtcctcagggtcttcttggtgctcctggtattctgggtctccctggctcgagaggt gaacgtggtctaccaggtgttgctggtgctgtgggtgaacctggtcctcttggcattgcc ggccctcctggggcccgtggtcctcctggtgctgtgggtagtcctggagtcaacggtgct cctggtgaagctggtcgtgatggcaaccctgggaacgatggtcccccaggtcgcgatggt caacccggacacaagggagagcgcggttaccctggcaatattggtcccgttggtgctgca ggtgcacctggtcctcatggccccgtgggtcctgctggcaaacatggaaaccgtggtgaa actggtccttctggtcctgttggtcctgctggtgctgttggcccaagaggtcctagtggc ccacaaggcattcgtggcgataagggagagcccggtgaaaaggggcccagaggtcttcct ggcttaaagggacacaatggattgcaaggtctgcctggtatcgctggtcaccatggtgat caaggtgctcctggctccgtgggtcctgctggtcctaggggccctgctggtccttctggc cctgctggaaaagatggtcgcactggacatcctggtacagttggacctgctggcattcga ggccctcagggtcaccaaggccctgctggcccccctggtccccctggccctcctggacct ccaggtgtaagcggtggtggttatgactttggttacgatggagacttctacagggctgac cagcctcgctcagcaccttctctcagacccaaggactatgaagttgatgctactctgaag tctctcaacaaccagattgagacccttcttactcctgaaggctctagaaagaacccagct cgcacatgccgtgacttgagactcagccacccagagtggagcagtggttactactggatt gaccctaaccaaggatgcactatggatgctatcaaagtatactgtgatttctctactggc gaaacctgtatccgggcccaacctgaaaacatcccagccaagaactggtataggagctcc aaggacaagaaacacgtctggctaggagaaactatcaatgctggcagccagtttgaatat aatgtagaaggagtgacttccaaggaaatggctacccaacttgccttcatgcgcctgctg gccaactatgcctctcagaacatcacctaccactgcaagaacagcattgcatacatggat gaggagactggcaacctgaaaaaggctgtcattctacagggctctaatgatgttgaactt gttgctgagggcaacagcaggttcacttacactgttcttgtagatggctgctctaaaaag acaaatgaatggggaaagacaatcattgaatacaaaacaaataagccatcacgcctgccc ttccttgatattgcacctttggacatcggtggtgctgaccaggaattctttgtggacatt ggcccagtctgtttcaaataa |
Protein Sequence | >1278 : length: 1366 MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK |