KEGG   Homo sapiens (human): 1278
Entry
1278              CDS       T01001                                 

Gene name
COL1A2, EDSARTH2, EDSCV, OI4
Definition
(RefSeq) collagen type I alpha 2 chain
  KO
K06236  collagen, type I, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
Disease
H00506  Osteogenesis imperfecta
H01593  Osteoporosis
H02241  Ehlers-Danlos syndrome cardiac valvular type
H02243  Ehlers-Danlos syndrome arthrochalasia type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1278 (COL1A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1278 (COL1A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1278 (COL1A2)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1278 (COL1A2)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1278 (COL1A2)
  09154 Digestive system
   04974 Protein digestion and absorption
    1278 (COL1A2)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1278 (COL1A2)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1278 (COL1A2)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1278 (COL1A2)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1278 (COL1A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1278 (COL1A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Haparin
  Extracellular matrix molecules
   1278 (COL1A2)
SSDB
Motif
Pfam: Collagen COLFI
Other DBs
NCBI-GeneID: 1278
NCBI-ProteinID: NP_000080
OMIM: 120160
HGNC: 2198
Ensembl: ENSG00000164692
Vega: OTTHUMG00000148675
Pharos: P08123(Tbio)
UniProt: P08123 A0A0S2Z3H5
Position
7q21.3
AA seq 1366 aa
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG
PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP
GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR
GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK
GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ
GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP
GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG
GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP
GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR
GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK
SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
NT seq 4101 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (10)   
   KEGG PATHWAY (10)   
Disease (11)   
   KEGG DISEASE (4)   
   OMIM (7)   
Genome (1)   
   KEGG GENOME (1)   
Gene (42)   
   KEGG ORTHOLOGY (1)   
   RefGene (32)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (49)   
   RefSeq(nuc) (1)   
   GenBank (24)   
   EMBL (24)   
Protein domain (2)   
   Pfam (2)   
All databases (121)   

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