KEGG   Homo sapiens (human): 1290Help
Entry
1290              CDS       T01001                                 

Gene name
COL5A2, EDSC, EDSCL2
Definition
(RefSeq) collagen type V alpha 2 chain
  KO
K19721  collagen, type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00802  Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1290 (COL5A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate/Haparin
  Extracellular matrix molecules
   1290 (COL5A2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI VWC TILa Amnionless
Motif
Other DBs
NCBI-GeneID: 1290
NCBI-ProteinID: NP_000384
OMIM: 120190
HGNC: 2210
Ensembl: ENSG00000204262
Vega: OTTHUMG00000149842
Pharos: P05997(Tbio)
UniProt: P05997
Position
2q32.2
AA seq 1499 aa AA seqDB search
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV
NT seq 4500 nt NT seq  +upstreamnt  +downstreamnt
atgatggcaaactgggcggaagcaagacctctcctcattcttattgttttattagggcaa
tttgtctcaataaaagcccaggaagaagacgaggatgaaggatatggtgaagaaatagcc
tgcactcagaatggccagatgtacttaaacagggacatttggaaacctgccccttgtcag
atctgtgtctgtgacaatggagccattctctgtgacaagatagaatgccaggatgtgctg
gactgtgccgaccctgtaacgccccctggggaatgctgtcctgtctgttcacaaacacct
ggaggtggcaataccaattttggtagaggaagaaagggacaaaagggagaaccaggatta
gtgcctgttgtaacaggcatacgtggtcgtccaggaccggcaggacctccaggatcacag
ggaccaagaggagagcgagggccaaaaggaagacctggccctcgtggacctcagggaatt
gatggagaaccaggtgttcctggtcaacctggtgctccaggacctcctggacatccgtcc
cacccaggacccgatggcttgagcaggccgttttcagctcaaatggctgggttggatgaa
aaatctggacttgggagtcaagtaggactaatgcctggctctgtgggtcctgttggccca
aggggaccacagggtttacaaggacagcaaggtggtgcaggacctacaggacctcctggt
gaacctggtgatcctggaccaatgggtccgattggttcacgtggaccagagggccctcct
ggtaaacctggggaagatggtgaacctggcagaaatggaaatcctggtgaagtgggattt
gcaggatctccgggagctcgtggatttcctggggctcctggtcttccaggtctgaagggt
caccgaggacacaaaggtcttgaaggccctaaaggtgaagttggagcacctggttccaag
ggtgaagctggccccactggtccaatgggtgccatgggtcctctgggtccgaggggaatg
ccaggagagagagggagacttgggccacagggtgctcctggacaacgaggtgcacatggt
atgcctggaaaacctggaccaatgggtcctcttgggataccaggctcttctggttttcca
ggaaatcctggaatgaagggagaagcaggtcctacaggggcgcgaggccctgaaggtcct
caggggcagagaggtgaaactgggcccccaggtccagttggctctccaggtcttcctggt
gcaataggaactgatggtactcctggtgccaaaggcccaacgggctctccaggtacctct
ggtcctcctggctcagcagggcctcctggatctccaggacctcagggtagcactggtcct
cagggaattcgaggccaaccgggtgatccaggagttccaggtttcaaaggagaagctggc
ccaaaaggggaaccagggccacatggtattcagggtccgataggcccacccggtgaagaa
ggcaaaagaggtcccagaggtgacccaggaacagttggtcctccagggccagtgggagaa
aggggtgctcctggcaatcgtggttttccaggctctgatggtttacctgggccaaagggt
gctcaaggagaacggggtcctgtaggttcttcaggacccaaaggaagccagggggatcca
ggacgtccaggggaacctgggcttccaggtgctcggggtttgacaggaaatcctggtgtt
caaggtcctgaaggaaaacttggacctttgggtgcgccaggggaagatggccgtccaggt
cctccaggctccataggaatcagagggcagcccgggagcatgggccttccaggccccaaa
ggtagcagtggtgaccctgggaaacctggagaagcaggaaatgctggagttcctgggcag
aggggagctcctggaaaagatggtgaagttggtccttctggtcctgtgggcccgccgggt
ctagctggtgaaagaggagaacaaggacctccaggccccacaggttttcaggggcttcct
ggtcctccagggcctcctggagaaggtggaaaaccaggtgatcaaggtgttcctggagat
cccggagcagttggcccgttaggacctagaggagaacgaggaaatcctggggaaagagga
gaacctgggataactggactccctggtgagaagggaatggctggaggacatggtcctgat
ggcccaaaaggcagtccaggtccatctgggacccctggagatacaggcccaccaggtctt
caaggtatgccgggagaaagaggaattgcaggaactcctggccccaagggtgacagaggt
ggcataggagaaaaaggtgctgaaggcacagctggaaatgatggtgcaagaggtcttcca
ggtcctttgggccctccaggtccggcaggtcctactggagaaaagggtgaacctggtcct
cgaggtttagttggccctcctggctcccggggcaatcctggttctcgaggtgaaaatggg
ccaactggagctgttggttttgccggaccccagggtcctgacggacagcctggagtaaaa
ggtgaacctggagagccaggacagaagggagatgctggttctcctggaccacaaggttta
gcaggatcccctggccctcatggtcctaatggtgttcctggactaaaaggtggtcgagga
acccaaggtccgcctggtgctacaggatttcctggttctgcgggcagagttggacctcca
ggccctgctggagctccaggacctgcgggacccctaggggaacccgggaaggagggacct
ccaggtcttcgtggggaccctggctctcatgggcgtgtgggagatcgaggaccagctggc
ccccctggtggcccaggagacaaaggggacccaggagaagatgggcaacctggtccagat
ggcccccctggtccagctggaacgaccgggcagagaggaattgttggcatgcctgggcaa
cgtggagagagaggcatgcccggcctaccaggcccagcgggaacaccaggaaaagtagga
ccaactggtgcaacaggagataaaggtccacctggacctgtggggcccccaggctccaat
ggtcctgtaggggaacctggaccagaaggtccagctggcaatgatggtaccccaggacgg
gatggtgctgttggagaacgtggtgatcgtggagaccctgggcctgcaggtctgccaggc
tctcagggtgcccctggaactcctggccctgtgggtgctccaggagatgcaggacaaaga
ggagatccgggttctcggggtcctataggaccacctggtcgagctgggaaacgtggatta
cctggaccccaaggacctcgtggtgacaaaggtgatcatggagaccgaggtgacagaggt
cagaagggccacagaggctttactggtcttcagggtcttcctggccctcctggtccaaat
ggtgaacaaggaagtgctggaatccctggaccatttggcccaagaggtcctccaggccca
gttggtccttcaggtaaagaaggaaaccctgggccacttgggccaattggacctccaggt
gtacgaggcagtgtaggagaagcaggacctgagggccctcctggtgagcctggcccacct
ggccctccgggtccccctggccaccttacagctgctcttggggatatcatggggcactat
gatgaaagcatgccagatccacttcctgagtttactgaagatcaggcggctcctgatgac
aaaaacaaaacggacccaggggttcatgctaccctgaagtcactcagtagtcagattgaa
accatgcgcagccccgatggctcgaaaaagcacccagcccgcacgtgtgatgacctaaag
ctttgccattccgcaaagcagagtggtgaatactggattgatcctaaccaaggatctgtt
gaagatgcaatcaaagtttactgcaacatggaaacaggagaaacatgtatttcagcaaac
ccatccagtgtaccacgtaaaacctggtgggccagtaaatctcctgacaataaacctgtt
tggtatggtcttgatatgaacagagggtctcagttcgcttatggagaccaccaatcacct
aatacagccattactcagatgacttttttgcgccttttatcaaaagaagcctcccagaac
atcacttacatctgtaaaaacagtgtaggatacatggacgatcaagctaagaacctcaaa
aaagctgtggttctcaaaggggcaaatgacttagatatcaaagcagagggaaatattaga
ttccggtatatcgttcttcaagacacttgctctaagcggaatggaaatgtgggcaagact
gtctttgaatatagaacacagaatgtggcacgcttgcccatcatagatcttgctcctgtg
gatgttggcggcacagaccaggaattcggcgttgaaattgggccagtttgttttgtgtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (40)   
   KEGG ORTHOLOGY (1)   
   RefGene (31)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (30)   
   RefSeq(nuc) (2)   
   GenBank (14)   
   EMBL (14)   
Protein domain (5)   
   Pfam (5)   
All databases (85)   

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