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
hsa04820  Cytoskeleton in muscle cells
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    5318 (PKP2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    5318 (PKP2)
SSDB
Motif
Pfam: Arm ARMC9_ARM Atx10homo_assoc SelP_C
Other DBs
NCBI-GeneID: 5318
NCBI-ProteinID: NP_004563
OMIM: 602861
HGNC: 9024
Ensembl: ENSG00000057294
UniProt: Q99959
Structure
Position
12:complement(32790755..32896777)
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 (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (438)   
   KEGG ORTHOLOGY (1)   
   RefGene (432)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (40)   
   RefSeq(nuc) (10)   
   GenBank (15)   
   EMBL (15)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (502)   

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