KEGG   Homo sapiens (human): 1296Help
Entry
1296              CDS       T01001                                 

Gene name
COL8A2, FECD, FECD1, PPCD, PPCD2
Definition
(RefSeq) collagen type VIII alpha 2 chain
Organism
hsa  Homo sapiens (human)
Disease
H00960  Fuchs corneal dystrophy (FECD)
H00961  Posterior polymorphous corneal dystrophy (PPCD)
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen C1q
Motif
Other DBs
NCBI-GeneID: 1296
NCBI-ProteinID: NP_005193
OMIM: 120252
HGNC: 2216
Ensembl: ENSG00000171812
Vega: OTTHUMG00000007665
Pharos: P25067(Tbio)
UniProt: P25067
Position
1p34.3
AA seq 703 aa AA seqDB search
MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGK
GQYLEMPLPLLPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFS
RMGKAGPPGLPGKVGPPGQPGLRGEPGIRGDQGLRGPPGPPGLPGPSGITIPGKPGAQGV
PGPPGFQGEPGPQGEPGPPGDRGLKGDNGVGQPGLPGAPGQGGAPGPPGLPGPAGLGKPG
LDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPGVDGVGVPGAAGLPGPQGPSGAKGE
PGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPGLLGDRGEPGEDGEPGEQGPQGLGGPP
GLPGSAGLPGRRGPPGPKGEAGPGGPPGVPGIRGDQGPSGLAGKPGVPGERGLPGAHGPP
GPTGPKGEPGFTGRPGGPGVAGALGQKGDLGLPGQPGLRGPSGIPGLQGPAGPIGPQGLP
GLKGEPGLPGPPGEGRAGEPGTAGPTGPPGVPGSPGITGPPGPPGPPGPPGAPGAFDETG
IAGLHLPNGGVEGAVLGKGGKPQFGLGELSAHATPAFTAVLTSPFPASGMPVKFDRTLYN
GHSGYNPATGIFTCPVGGVYYFAYHVHVKGTNVWVALYKNNVPATYTYDEYKKGYLDQAS
GGAVLQLRPNDQVWVQMPSDQANGLYSTEYIHSSFSGFLLCPT
NT seq 2112 nt NT seq  +upstreamnt  +downstreamnt
atgctggggactctgacacccctgtcttcgctgctgctgctgctactggtgctggtgctg
gggtgtgggccgcgggcgtcctctggtggcggggccggtggggcggcgggctatgcccca
gtgaagtacatccagcccatgcagaaaggacctgtgggaccgcccttccgtgagggcaaa
ggccagtacctggaaatgcctctaccgctgctgccgatggacctgaagggagagcccggc
ccccctgggaagcccgggcctcggggtccccctggcccccctggcttcccaggaaaacca
ggcatgggaaagccaggactccatgggcagcctggccctgctgggccccctggcttctcc
cggatgggcaaggctggtcccccagggctccctggcaaggtcgggccaccagggcagccg
gggcttcggggggagccaggaatacgaggggaccagggcctccggggacccccaggaccc
cctggcctcccgggcccctcaggcattactatccctggaaaaccaggtgcccaaggggtg
ccagggcccccaggattccagggggaaccagggccccagggggagcctgggcccccaggt
gatcgaggcctcaagggggataatggagtgggccagcccgggctgcctggggccccaggg
caggggggtgcccccggcccccccggcctccctggtccagctggcttaggcaaacctggt
ttggatgggcttcctggggccccaggagacaagggtgagtctgggcctcctggagttcca
ggccccaggggggagccaggagctgtgggcccaaaaggacctcctggagtagacggtgtg
ggagtcccaggggcagcagggttgccaggaccacagggcccatcaggggccaaaggggag
ccagggacccggggcccccctgggctgataggccccactggctatgggatgccaggactg
ccaggccccaagggggacaggggcccagctggggtcccaggactcttgggggacaggggt
gagccaggggaggatggggagccaggggagcagggcccacagggtcttgggggtccccct
ggacttcctgggtctgcagggcttcctggcagacgtgggccccctgggcctaagggtgag
gcagggcctggaggacccccaggagtgcctggcattcgaggtgaccaggggcctagtggc
ctggctgggaaaccaggggtcccaggtgagaggggacttcctggggcccatggaccccct
ggaccaactgggcccaagggtgagccgggtttcacgggtcgccctggaggaccaggggtg
gcaggagccctggggcagaaaggtgacttggggctccctgggcagcctggcctgaggggt
ccctcaggaatcccaggactccagggtccagctggccctattgggccccaaggcctgccg
ggcctgaagggggaaccaggcctgccagggccccctggagaggggagagcaggggaacct
ggcacggctgggcccacggggcccccaggggtccctggctcccctggaatcacgggccct
ccggggcctcccgggcccccgggaccccctggtgcccctggggccttcgatgagactggc
atcgcaggcttgcacctgcccaacggcggtgtggagggtgccgtgctgggcaaggggggc
aagccacagtttgggctgggcgagctgtctgcccatgccacaccggccttcactgcggtg
ctcacctcgcccttccccgcctcgggcatgcccgtgaaatttgaccggactctctacaat
ggccacagcggctacaacccagccactggcatcttcacctgccctgtgggcggcgtctac
tactttgcttaccatgtgcacgtcaagggcaccaacgtgtgggtggccctgtacaagaac
aacgtgccggccacctatacctacgatgagtacaagaagggctacctggaccaggcatct
ggtggggccgtgctccagctgcggcccaacgaccaggtctgggtgcagatgccgtcggac
caggccaacggcctctactccacggagtacatccactcctccttttcaggattcttgctc
tgccccacataa

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