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

Symbol
PKP2, ARVD9
Name
(RefSeq) plakophilin 2
  KO
K12642  plakophilin 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    5318 (PKP2)
SSDB
Motif
Pfam: Arm Atx10homo_assoc SelP_C
Other DBs
NCBI-GeneID: 5318
NCBI-ProteinID: NP_004563
OMIM: 602861
HGNC: 9024
Ensembl: ENSG00000057294
Vega: OTTHUMG00000169500
Pharos: Q99959(Tbio)
UniProt: Q99959
Structure
PDB: 
3TT9

Position
12p11.21
AA seq 881 aa
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQV
QQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYE
GRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHH
QESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT
LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSML
EADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR
NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
PSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPE
GDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPD
DKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQ
DVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSV
AQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPD
TVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAA
SVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD
NT seq 2646 nt   +upstreamnt  +downstreamnt
atggcagcccccggcgccccagctgagtacggctacatccggaccgtcctgggccagcag
atcctgggacaactggacagctccagcctggcgctgccctccgaggccaagctgaagctg
gcggggagcagcggccgcggcggccagacagtcaagagcctgcggatccaggagcaggtg
cagcagaccctcgcccggaagggccgcagctccgtgggcaacggaaatcttcaccgaacc
agcagtgttcctgagtatgtctacaacctacacttggttgaaaatgattttgttggaggc
cgttcccctgttcctaaaacctatgacatgctaaaggctggcacaactgccacttatgaa
ggtcgctggggaagaggaacagcacagtacagctcccagaagtccgtggaagaaaggtcc
ttgaggcatcctctgaggagactggagatttctcctgacagcagcccggagagggctcac
tacacgcacagcgattaccagtacagccagagaagccaggctgggcacaccctgcaccac
caagaaagcaggcgggccgccctcctagtgccaccgagatatgctcgttccgagatcgtg
ggggtcagccgtgctggcaccacaagcaggcagcgccactttgacacataccacagacag
taccagcatggctctgttagcgacaccgtttttgacagcatccctgccaacccggccctg
ctcacgtaccccaggccagggaccagccgcagcatgggcaacctcttggagaaggagaac
tacctgacggcagggctcactgtcgggcaggtcaggccgctggtgcccctgcagcccgtc
actcagaacagggcttccaggtcctcctggcatcagagctccttccacagcacccgcacg
ctgagggaagctgggcccagtgtcgccgtggattccagcgggaggagagcgcacttgact
gtcggccaggcggccgcagggggaagtgggaatctgctcactgagagaagcactttcact
gactcccagctggggaatgcagacatggagatgactctggagcgagcagtgagtatgctc
gaggcagaccacatgctgccatccaggatttctgctgcagctactttcatacagcacgag
tgcttccagaaatctgaagctcggaagagggttaaccagcttcgtggcatcctcaagctt
ctgcagctcctaaaagttcagaatgaagacgttcagcgagctgtgtgtggggccttgaga
aacttagtatttgaagacaatgacaacaaattggaggtggctgaactaaatggggtacct
cggctgctccaggtgctgaagcaaaccagagacttggagactaaaaaacaaataacagac
catacagtcaatttaagaagtaggaatggctggccgggcgcggtggctcacgcctgtaat
cccagcactttgggaggccaaggcgggcggatcacgaggtcaggagttcgagaccagcct
gaccaacatggtttgctgtggaatttgtcatctaatgacaaactcaagaatctcatgata
acagaagcattgcttacgctgacggagaatatcatcatccccttttctgggtggcctgaa
ggagactacccaaaagcaaatggtttgctcgattttgacatattctacaacgtcactgga
tgcctaagaaacatgagttctgctggcgctgatgggagaaaagcgatgagaagatgtgac
ggactcattgactcactggtccattatgtcagaggaaccattgcagattaccagccagat
gacaaggccacggagaattgtgtgtgcattcttcataacctctcctaccagctggaggca
gagctcccagagaaatattcccagaatatctatattcaaaaccggaatatccagactgac
aacaacaaaagtattggatgttttggcagtcgaagcaggaaagtaaaagagcaataccag
gacgtgccgatgccggaggaaaagagcaaccccaagggcgtggagtggctgtggcattcc
attgttataaggatgtatctgtccttgatcgccaaaagtgtccgcaactacacacaagaa
gcatccttaggagctctgcagaacctcacggccggaagtggaccaatgccgacatcagtg
gctcagacagttgtccagaaggaaagtggcctgcagcacacccgaaagatgctgcatgtt
ggtgacccaagtgtgaaaaagacagccatctcgctgctgaggaatctgtcccggaatctt
tctctgcagaatgaaattgccaaagaaactctccctgatttggtttccatcattcctgac
acagtcccgagtactgaccttctcattgaaactacagcctctgcctgttacacattgaac
aacataatccaaaacagttaccagaatgcacgcgaccttctaaacaccgggggcatccag
aaaattatggccattagtgcaggcgatgcctatgcctccaacaaagcaagtaaagctgct
tccgtccttctgtattctctgtgggcacacacggaactgcatcatgcctacaagaaggct
cagtttaagaagacagattttgtcaacagccggactgccaaagcctaccactcccttaaa
gactga

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