KEGG   Homo sapiens (human): 5318Help
Entry
5318              CDS       T01001                                 

Gene name
PKP2, ARVD9
Definition
plakophilin 2
Orthology
K12642  
plakophilin 2
Organism
hsa  Homo sapiens (human)
Pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00293  
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Cardiovascular diseases
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    5318 (PKP2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
12p11
AA seq 837 aa AA seqDB search
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQV
QQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYE
GRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHH
QESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT
LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSML
EADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR
NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITGLLWNLSSNDKLKNLMITEAL
LTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLID
SLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKS
IGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLG
ALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQN
EIAKETLPDLVSIIPDTVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMA
ISAGDAYASNKASKAASVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD
NT seq 2514 nt NT seq  +upstreamnt  +downstreamnt
atggcagcccccggcgccccagctgagtacggctacatccggaccgtcctgggccagcag
atcctgggacaactggacagctccagcctggcgctgccctccgaggccaagctgaagctg
gcggggagcagcggccgcggcggccagacagtcaagagcctgcggatccaggagcaggtg
cagcagaccctcgcccggaagggccgcagctccgtgggcaacggaaatcttcaccgaacc
agcagtgttcctgagtatgtctacaacctacacttggttgaaaatgattttgttggaggc
cgttcccctgttcctaaaacctatgacatgctaaaggctggcacaactgccacttatgaa
ggtcgctggggaagaggaacagcacagtacagctcccagaagtccgtggaagaaaggtcc
ttgaggcatcctctgaggagactggagatttctcctgacagcagcccggagagggctcac
tacacgcacagcgattaccagtacagccagagaagccaggctgggcacaccctgcaccac
caagaaagcaggcgggccgccctcctagtgccaccgagatatgctcgttccgagatcgtg
ggggtcagccgtgctggcaccacaagcaggcagcgccactttgacacataccacagacag
taccagcatggctctgttagcgacaccgtttttgacagcatccctgccaacccggccctg
ctcacgtaccccaggccagggaccagccgcagcatgggcaacctcttggagaaggagaac
tacctgacggcagggctcactgtcgggcaggtcaggccgctggtgcccctgcagcccgtc
actcagaacagggcttccaggtcctcctggcatcagagctccttccacagcacccgcacg
ctgagggaagctgggcccagtgtcgccgtggattccagcgggaggagagcgcacttgact
gtcggccaggcggccgcagggggaagtgggaatctgctcactgagagaagcactttcact
gactcccagctggggaatgcagacatggagatgactctggagcgagcagtgagtatgctc
gaggcagaccacatgctgccatccaggatttctgctgcagctactttcatacagcacgag
tgcttccagaaatctgaagctcggaagagggttaaccagcttcgtggcatcctcaagctt
ctgcagctcctaaaagttcagaatgaagacgttcagcgagctgtgtgtggggccttgaga
aacttagtatttgaagacaatgacaacaaattggaggtggctgaactaaatggggtacct
cggctgctccaggtgctgaagcaaaccagagacttggagactaaaaaacaaataacaggt
ttgctgtggaatttgtcatctaatgacaaactcaagaatctcatgataacagaagcattg
cttacgctgacggagaatatcatcatccccttttctgggtggcctgaaggagactaccca
aaagcaaatggtttgctcgattttgacatattctacaacgtcactggatgcctaagaaac
atgagttctgctggcgctgatgggagaaaagcgatgagaagatgtgacggactcattgac
tcactggtccattatgtcagaggaaccattgcagattaccagccagatgacaaggccacg
gagaattgtgtgtgcattcttcataacctctcctaccagctggaggcagagctcccagag
aaatattcccagaatatctatattcaaaaccggaatatccagactgacaacaacaaaagt
attggatgttttggcagtcgaagcaggaaagtaaaagagcaataccaggacgtgccgatg
ccggaggaaaagagcaaccccaagggcgtggagtggctgtggcattccattgttataagg
atgtatctgtccttgatcgccaaaagtgtccgcaactacacacaagaagcatccttagga
gctctgcagaacctcacggccggaagtggaccaatgccgacatcagtggctcagacagtt
gtccagaaggaaagtggcctgcagcacacccgaaagatgctgcatgttggtgacccaagt
gtgaaaaagacagccatctcgctgctgaggaatctgtcccggaatctttctctgcagaat
gaaattgccaaagaaactctccctgatttggtttccatcattcctgacacagtcccgagt
actgaccttctcattgaaactacagcctctgcctgttacacattgaacaacataatccaa
aacagttaccagaatgcacgcgaccttctaaacaccgggggcatccagaaaattatggcc
attagtgcaggcgatgcctatgcctccaacaaagcaagtaaagctgcttccgtccttctg
tattctctgtgggcacacacggaactgcatcatgcctacaagaaggctcagtttaagaag
acagattttgtcaacagccggactgccaaagcctaccactcccttaaagactga

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