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

Gene name
PKP2, ARVD9
Definition
(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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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (440)   
   KEGG ORTHOLOGY (1)   
   RefGene (432)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (32)   
   RefSeq(nuc) (2)   
   GenBank (15)   
   EMBL (15)   
Protein domain (3)   
   Pfam (3)   
All databases (485)   

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