KEGG   Homo sapiens (human): 1280Help
Entry
1280              CDS       T01001                                 

Gene name
COL2A1, ANFH, AOM, COL11A3, SEDC, STL1
Definition
(RefSeq) collagen type II alpha 1 chain
  KO
K19719  collagen, type II, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00445  Osteoarthritis with mild chondrodysplasia
H00476  Multiple epiphyseal dysplasia
H00519  Spondyloepiphyseal dysplasia congenita
H00520  Type II collagenopathies
H00805  Vitreoretinal degeneration
H01526  Legg-Calve-Perthes Disease
H01529  Avascular necrosis of femoral head
H01709  Glucocorticoid-induced osteonecrosis
H02066  Achondrogenesis type II
H02070  Kniest dysplasia
H02071  Czech dysplasia
H02072  Stickler syndrome
H02187  Spondyloepimetaphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1280 (COL2A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1280 (COL2A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1280 (COL2A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1280 (COL2A1)
 09160 Human Diseases
  09172 Infectious diseases: Viral
   05165 Human papillomavirus infection
    1280 (COL2A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1280 (COL2A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate/Haparin
  Extracellular matrix molecules
   1280 (COL2A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI VWC
Motif
Other DBs
NCBI-GeneID: 1280
NCBI-ProteinID: NP_001835
OMIM: 120140
HGNC: 2200
Ensembl: ENSG00000139219
Vega: OTTHUMG00000149896
Pharos: P02458(Tbio)
UniProt: P02458
Structure
PDB: 

Position
12q13.11
AA seq 1487 aa AA seqDB search
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTG
TVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKG
PPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFA
AQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMG
PRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG
EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVG
PAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQG
APGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAG
PKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG
VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPG
PSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRG
LPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPG
KDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG
AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPG
DDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPG
PVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAG
PTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQG
LPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG
PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRL
LSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTK
HTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL
NT seq 4464 nt NT seq  +upstreamnt  +downstreamnt
atgattcgcctcggggctccccagacgctggtgctgctgacgctgctcgtcgccgctgtc
cttcggtgtcagggccaggatgtccaggaggctggcagctgtgtgcaggatgggcagagg
tataatgataaggatgtgtggaagccggagccctgccggatctgtgtctgtgacactggg
actgtcctctgcgacgacataatctgtgaagacgtgaaagactgcctcagccctgagatc
cccttcggagagtgctgccccatctgcccaactgacctcgccactgccagtgggcaacca
ggaccaaagggacagaaaggagaacctggagacatcaaggatattgtaggacccaaagga
cctcctgggcctcagggacctgcaggggaacaaggacccagaggggatcgtggtgacaaa
ggtgaaaaaggtgcccctggacctcgtggcagagatggagaacctgggacccctggaaat
cctggcccccctggtcctcccggcccccctggtccccctggtcttggtggaaactttgct
gcccagatggctggaggatttgatgaaaaggctggtggcgcccagttgggagtaatgcaa
ggaccaatgggccccatgggacctcgaggacctccaggccctgcaggtgctcctgggcct
caaggatttcaaggcaatcctggtgaacctggtgaacctggtgtctctggtcccatgggt
ccccgtggtcctcctggtccccctggaaagcctggtgatgatggtgaagctggaaaacct
ggaaaagctggtgaaaggggtccgcctggtcctcagggtgctcgtggtttcccaggaacc
ccaggccttcctggtgtcaaaggtcacagaggttatccaggcctggacggtgctaaggga
gaggcgggtgctcctggtgtgaagggtgagagtggttccccgggtgagaacggatctccg
ggcccaatgggtcctcgtggcctgcctggtgaaagaggacggactggccctgctggcgct
gcgggtgcccgaggcaacgatggtcagccaggccccgcagggcctccgggtcctgtcggt
cctgctggtggtcctggcttccctggtgctcctggagccaagggtgaagccggccccact
ggtgcccgtggtcctgaaggtgctcaaggtcctcgcggtgaacctggtactcctgggtcc
cctgggcctgctggtgcctccggtaaccctggaacagatggaattcctggagccaaagga
tctgctggtgctcctggcattgctggtgctcctggcttccctgggccacggggccctcct
ggccctcaaggtgcaactggtcctctgggcccgaaaggtcagacgggtgaacctggtatt
gctggcttcaaaggtgaacaaggccccaagggagaacctggccctgctggcccccaggga
gcccctggacccgctggtgaagaaggcaagagaggtgcccgtggagagcctggtggcgtt
gggcccatcggtccccctggagaaagaggtgctcccggcaaccgcggtttcccaggtcaa
gatggtctggcaggtcccaagggagcccctggagagcgagggcccagtggtcttgctggc
cccaagggagccaacggtgaccctggccgtcctggagaacctggccttcctggagcccgg
ggtctcactggccgccctggtgatgctggtcctcaaggcaaagttggcccttctggagcc
cctggtgaagatggtcgtcctggacctccaggtcctcagggggctcgtgggcagcctggt
gtcatgggtttccctggccccaaaggtgccaacggtgagcctggcaaagctggtgagaag
ggactgcctggtgctcctggtctgaggggtcttcctggcaaagatggtgagacaggtgct
gcaggaccccctggccctgctggacctgctggtgaacgaggcgagcagggtgctcctggg
ccatctgggttccagggacttcctggccctcctggtcccccaggtgaaggtggaaaacca
ggtgaccagggtgttcccggtgaagctggagcccctggcctcgtgggtcccaggggtgaa
cgaggtttcccaggtgaacgtggctctcccggtgcccagggcctccagggtccccgtggc
ctccccggcactcctggcactgatggtcccaaaggtgcatctggcccagcaggcccccct
ggggctcagggccctccaggtcttcagggaatgcctggcgagaggggagcagctggtatc
gctgggcccaaaggcgacaggggtgacgttggtgagaaaggccctgagggagcccctgga
aaggatggtggacgaggcctgacaggtcccattggcccccctggcccagctggtgctaat
ggcgagaagggagaagttggacctcctggtcctgcaggaagtgctggtgctcgtggcgct
ccgggtgaacgtggagagactgggccccccggaccagcgggatttgctgggcctcctggt
gctgatggccagcctggggccaagggtgagcaaggagaggccggccagaaaggcgatgct
ggtgcccctggtcctcagggcccctctggagcacctgggcctcagggtcctactggagtg
actggtcctaaaggagcccgaggtgcccaaggccccccgggagccactggattccctgga
gctgctggccgcgttggacccccaggctccaatggcaaccctggaccccctggtccccct
ggtccttctggaaaagatggtcccaaaggtgctcgaggagacagcggcccccctggccga
gctggtgaacccggcctccaaggtcctgctggaccccctggcgagaagggagagcctgga
gatgacggtccctctggtgccgaaggtccaccaggtccccagggtctggctggtcagaga
ggcatcgtcggtctgcctgggcaacgtggtgagagaggattccctggcttgcctggcccg
tcgggtgagcccggcaagcagggtgctcctggagcatctggagacagaggtcctcctggc
cccgtgggtcctcctggcctgacgggtcctgcaggtgaacctggacgagagggaagcccc
ggtgctgatggcccccctggcagagatggcgctgctggagtcaagggtgatcgtggtgag
actggtgctgtgggagctcctggagcccctgggccccctggctcccctggccccgctggt
ccaactggcaagcaaggagacagaggagaagctggtgcacaaggccccatgggaccctca
ggaccagctggagcccggggaatccagggtcctcaaggccccagaggtgacaaaggagag
gctggagagcctggcgagagaggcctgaagggacaccgtggcttcactggtctgcagggt
ctgcccggccctcctggtccttctggagaccaaggtgcttctggtcctgctggtccttct
ggccctagaggtcctcctggccccgtcggtccctctggcaaagatggtgctaatggaatc
cctggccccattgggcctcctggtccccgtggacgatcaggcgaaaccggccctgctggt
cctcctggaaatcctggaccccctggtcctccaggtccccctggccctggcatcgacatg
tccgcctttgctggcttaggcccgagagagaagggccccgaccccctgcagtacatgcgg
gccgaccaggcagccggtggcctgagacagcatgacgccgaggtggatgccacactcaag
tccctcaacaaccagattgagagcatccgcagccccgagggctcccgcaagaaccctgct
cgcacctgcagagacctgaaactctgccaccctgagtggaagagtggagactactggatt
gaccccaaccaaggctgcaccttggacgccatgaaggttttctgcaacatggagactggc
gagacttgcgtctaccccaatccagcaaacgttcccaagaagaactggtggagcagcaag
agcaaggagaagaaacacatctggtttggagaaaccatcaatggtggcttccatttcagc
tatggagatgacaatctggctcccaacactgccaacgtccagatgaccttcctacgcctg
ctgtccacggaaggctcccagaacatcacctaccactgcaagaacagcattgcctatctg
gacgaagcagctggcaacctcaagaaggccctgctcatccagggctccaatgacgtggag
atccgggcagagggcaatagcaggttcacgtacactgccctgaaggatggctgcacgaaa
cataccggtaagtggggcaagactgttatcgagtaccggtcacagaagacctcacgcctc
cccatcattgacattgcacccatggacataggagggcccgagcaggaattcggtgtggac
atagggccggtctgcttcttgtaa

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