KEGG   Homo sapiens (human): 1302
Entry
1302              CDS       T01001                                 
Symbol
COL11A2, DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
Name
(RefSeq) collagen type XI alpha 2 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Disease
H00431  Ossification of the posterior longitudinal ligament of spine
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H02072  Stickler syndrome
H02079  Oto-spondylo-megaepiphyseal dysplasia
H02080  Fibrochondrogenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1302 (COL11A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1302 (COL11A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1302 (COL11A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1302 (COL11A2)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Other DBs
NCBI-GeneID: 1302
NCBI-ProteinID: NP_542411
OMIM: 120290
HGNC: 2187
Ensembl: ENSG00000204248
UniProt: P13942 A0A0C4DFS1
Position
6:complement(33162694..33193519)
AA seq 1736 aa
MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAY
RVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPV
RFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSAR
PVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQ
PHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETEL
GPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQ
ARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRA
GADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLP
GPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPR
GVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPT
GDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKD
GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTA
GKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGER
GAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVA
GEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAK
GDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRP
GATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSP
GQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRP
TGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT
QFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG
NT seq 5211 nt   +upstreamnt  +downstreamnt
atggagcggtgcagccgctgccatcgcctcctcctcctcctacctctggtgctggggctg
agcgcggccccaggctgggcaggtgcaccccctgtggatgtgctccgggccctgaggttc
ccctccctccctgatggtgtccggagagcgaaaggcatctgtccagctgatgtggcctac
cgagtggcacgacctgcccagctcagtgcacccactcgccagcttttcccaggaggattt
cccaaagatttctctctgctgactgttgtccggacccgccctggtctccaagctcccctc
ctgactctctacagtgcccagggtgtccgacagctgggcctggagctgggccgacctgtc
cgcttcctgtatgaagaccagactgggcggcctcaacctccctctcagccagtcttccga
ggcctcagcctagcagatggcaagtggcaccgtgtggctgtggctgtgaagggccagtct
gtcaccctcattgttgactgcaagaagcgagtcacccggcctctcccccgaagtgctcgt
ccagtattggacacccatggagtgatcatctttggtgcccgtattctggatgaagaagtc
tttgagggtgatgtccaggagctggccattgtcccaggggtccaggcagcctatgaatca
tgtgaacagaaggagctggaatgcgaggggggccagagggaaagaccccaaaaccaacag
cctcacagagcccagagatctccacagcagcaaccatcaagacttcacaggccacaaaat
caggaaccccagagccagcccactgagtctctctactatgactacgagcccccctattat
gatgtgatgactacggggacaacccctgattatcaggaccccaccccaggtgaagaggaa
gaaatcctggagtcgagcctcttgccaccccttgaggaggagcagacagatctccaggtc
ccccccacagccgacaggttccaggcagaggaatatggggagggtggcacagacccccct
gaagggccctacgattacacctatggctatggggatgattatcgtgaggagacagagctt
ggccctgccctctctgcggagacagcccactcaggagccgctgcccatggaccccgaggg
ctgaagggagagaaaggagagcctgcagtgttggaacctggtatgctcgtggaggggccc
cctggcccagaaggccctgcgggattgattggtccccctggcatccaggggaacccaggc
ccagttggagaccctggagagaggggcccccctggccgagcagggctccctggatcagat
ggggctcctggtcctcctggcacatctctcatgctcccattccggtttggcagtggtggg
ggtgacaagggccctgtggtggcggcccaggaggctcaggcccaggcgatcctgcagcag
gcgaggctggcgctccgtggaccccctggccccatgggatacacagggcgccctggaccc
ttgggccaacctgggagccctggcctgaaaggagagtctggagacttaggacctcagggc
cccagaggacctcagggcctcacaggccctcctggcaaggctgggcgaaggggccgggca
ggtgctgatggagcccgagggatgcctggagatcctggagtgaagggtgaccgaggtttt
gatggactcccagggctccctggagagaagggccataggggtgatactggtgcccagggc
cttcctggtccccctggtgaggatggagagaggggagatgacggggagattgggcctcga
gggctgcctggagagtcgggacctcgaggtctccttggccccaaaggcccacctggtatt
cctggaccccctggcgtccgaggcatggatggtccccagggccccaaagggagcttggga
ccccagggagagccaggacctcctggacaacagggcacccctgggacccagggtcttccc
gggccccagggtgccatcggccctcatggagagaagggtcctcaagggaagccagggctc
cccggcatgcctggctcagacggacccccgggtcacccagggaaggaaggtccccctgga
accaaaggaaaccagggtccctctggacctcagggacctctaggatacccaggacctcga
ggggtcaagggtgtggacggaattcggggtctgaagggtcataagggtgagaagggtgag
gatggctttcctgggttcaaaggtgacataggcgtgaaaggtgacaggggcgaagttgga
gtccctggttccaggggagaggatggtcctgaggggccaaagggacgcactggaccgact
ggagaccctgggcccccagggctcatgggcgagaagggcaagctgggtgttcctggtctg
cctggctatcctggacgtcagggacccaaggggtccctaggatttcctggctttcctggt
gccagtggagagaagggagcccggggcctgtcggggaagtcagggcctcggggagaacgg
ggccccacgggtccacggggtcagcggggaccccgaggtgccactgggaagtctggagct
aagggaacatctggtggtgatggcccccatgggccccctggagagaggggcctccctgga
cctcagggtcccaacgggtttcctggaccgaaaggacccccgggcccccctgggaaggat
gggctgccgggacacccaggccaaagaggagaagtgggtttccaagggaagaccggcccc
cctggtcctccaggagtggtgggacctcagggagcagcaggagaaaccggccctatgggg
gagagaggtcacccaggccccccggggccccctggagagcagggactacctgggacagct
ggaaaagaaggaacaaagggtgaccctggtccccctggggccccagggaaggatggtcct
gctggtctgaggggattcccaggagagagaggcctcccaggcactgctggtggacctggt
ttgaaggggaatgaaggtccgtctggcccccctggccctgcaggctcccctggggaacga
ggtgcagcaggatcagggggacccattggtccgccagggcgcccaggcccgcagggtccc
cctggagcagcaggagagaaaggtgtcccaggtgagaagggccccattggcccgactggc
cgagatggagtgcagggtcctgtggggcttcctggtcctgctgggcctccaggtgtggct
ggagaggatggagacaagggtgaggtgggggaccccggacagaagggcaccaaagggaac
aagggtgaacatggccctcctggaccccctggacccattggtcctgtggggcagcctgga
gcagcgggagcagatggggagcccggagctcggggaccccagggacactttggagccaaa
ggtgatgaaggaacaagaggattcaatgggcccccaggacccattggcctacagggtttg
ccaggcccctctggggagaagggagaaacaggagatgtgggtcctatgggaccacctggc
cccccaggacctcgaggtccagctggacccaatggcgctgatggcccacaaggtccccca
ggaggtgttgggaacctgggtccccctggagagaagggggaaccaggagagtcaggatct
ccagggatccagggcgagccaggtgtcaagggtccacgcggggaacgtggagagaaagga
gagtcggggcagccaggagagccagggccaccagggcctaaaggccccacaggcgatgat
ggccccaaagggaaccctggtcctgttggttttcctggtgaccctggcccccctggagaa
ggtggccctcggggccaggatggtgctaagggtgaccgaggcgaggatggtgagccagga
cagcctggatcccctggtcccaccggggagaatggacccccagggccacttggaaagcga
ggtcctgctggctcgcctggttccgaggggcgacaaggagggaagggagccaagggagat
cctggcgctataggtgccccggggaagacaggcccggtgggtcctgcaggcccagcaggg
aaacctggccctgatggtctgagggggctcccaggctcagtgggtcagcaaggccgacct
ggagctacaggccaggctgggcccccaggtcctgtgggacccccagggctgcctggtctc
cggggcgatgctggagccaagggagagaagggccacccaggtctcattggactgattggg
cccccgggtgagcagggagagaagggagatcggggacttcctgggcctcagggctcccct
gggcagaagggtgagatgggtatcccaggagcatccggccccattggtcctggaggtccc
cccggcctccccggacctgctggccccaaaggagccaaaggagccacaggcccaggcgga
cccaagggagagaagggtgtgcagggccctccaggacacccgggtcccccaggcgaggtg
atccagccactgcccattcagatgcccaagaagactcggcgctcggtggatggaagccgt
ctgatgcaggaagatgaggccataccgaccgggggagcccccggcagtcctggggggctg
gaggagatctttggctcactcgactccctgcgggaggagatcgagcagatgaggcggcca
acagggacccaggacagccctgctcgcacctgccaggacctgaagctgtgccacccagag
cttcccgatggagagtactgggtcgaccccaaccagggctgtgctcgggatgccttccga
gttttctgcaacttcacagcagggggtgagacctgtgtgacgcctagggatgacgtcacg
cagttctcttacgtggactcagagggctccccagtgggtgtggtccagctcaccttcctg
cggctgctcagcgtctcagcccaccaggacgtctcctacccctgctctggagcagcccgt
gacggtcccctgagactccgtggggccaatgaggatgagctgagcccggagactagcccc
tatgtcaaagaattcagagatggctgccagacacagcaaggccggacggtgctggaggtg
cgaacgcctgtgctggagcagctgccagtgctggatgcctccttctcagacctgggagcc
ccaccgaggcggggaggggtgctgctggggcctgtctgcttcatgggatag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (12)   
   KEGG DISEASE (6)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (56)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (53)   
DNA sequence (62)   
   RefSeq(nuc) (54)   
   GenBank (4)   
   EMBL (4)   
Protein domain (5)   
   Pfam (5)   
All databases (167)   

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