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
hsa04382  Cornified envelope formation
hsa04820  Cytoskeleton in muscle cells
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
  Element
N01758  Desmosome - Vimentin filaments
N01922  Localization of envoplakin and periplakin to the plasma membrane (PM)
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)
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    5318 (PKP2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    5318 (PKP2)
SSDB
Motif
Pfam: Arm ARM_ARMC5 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

  All links  
Disease (2)   
   OMIM (2)   
Gene (437)   
   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 (5)   
   Pfam (5)   
All databases (497)   

Download RDF
DBGET integrated database retrieval system