Entry |
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Symbol |
COL2A1, ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED
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Name |
(RefSeq) collagen type II alpha 1 chain
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KO |
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Organism |
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Pathway |
hsa04974 | Protein digestion and absorption |
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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 |
H02066 | Achondrogenesis type II |
H02185 | Spondylometaphyseal dysplasia |
H02187 | Spondyloepimetaphyseal dysplasia |
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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 disease: 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 / Heparin
Extracellular matrix molecules
1280 (COL2A1)
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SSDB |
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Motif |
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Other DBs |
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Structure |
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LinkDB |
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Position |
12:complement(47972967..48006212)
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AA seq |
1487 aa
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 +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 |