KEGG   Homo sapiens (human): 57158
Entry
57158             CDS       T01001                                 
Symbol
JPH2, CMD2E, CMH17, JP-2, JP2
Name
(RefSeq) junctophilin 2
  KO
K19530  junctophilin
Organism
hsa  Homo sapiens (human)
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    57158 (JPH2)
SSDB
Motif
Pfam: MORN
Other DBs
NCBI-GeneID: 57158
NCBI-ProteinID: NP_065166
OMIM: 605267
HGNC: 14202
Ensembl: ENSG00000149596
UniProt: Q9BR39 Q86VZ3
Structure
Position
20:complement(44106590..44187188)
AA seq 696 aa
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTF
EGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGT
ETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSP
ASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKR
SGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSN
KVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAR
ELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRP
EGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPAT
ERMAIEALQAPPAPSREPEVALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPA
TAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKTEARGLTKAGAKKKARKEAAL
AAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT
NT seq 2091 nt   +upstreamnt  +downstreamnt
atgagtgggggccgcttcgactttgatgatggaggggcgtactgcgggggctgggagggg
ggaaaggcccatgggcatggactgtgcacaggccccaagggccagggcgaatactctggc
tcctggaactttggctttgaggtggcaggtgtctacacctggcccagcggaaacaccttt
gagggatactggagccagggcaaacggcatgggctgggcatagagaccaaggggcgctgg
ctctacaagggcgagtggacacatggcttcaagggacgctacggaatccggcagagctca
agcagcggtgccaagtatgagggcacctggaacaatggcctgcaagacggctatggcacc
gagacctatgctgatggagggacgtaccaaggccagttcaccaacggcatgcgccatggc
tacggagtacgccagagcgtgccctacgggatggccgtggtggtgcgctcgccgctgcgc
acgtcgctgtcgtccctgcgcagcgagcacagcaacggcacggtggccccggactctccc
gcctcgccggcctccgacggccccgcgctgccctcgcccgccatcccgcgtggcggcttc
gcgctcagcctcctggccaatgccgaggcggccgcgcgggcgcccaagggcggcggcctc
ttccagcggggcgcgctgctgggcaagctgcggcgcgcagagtcgcgcacgtccgtgggt
agccagcgcagccgtgtcagcttccttaagagcgacctcagctcgggcgccagcgacgcc
gcgtccaccgccagcctgggagaggccgccgagggcgccgacgaggccgcacccttcgag
gccgatatcgacgccaccaccaccgagacctacatgggcgagtggaagaacgacaaacgc
tcgggcttcggcgtgagcgaacgctccagtggcctccgctacgagggcgagtggctggac
aacctgcgccacggctatggctgcaccacgctgcccgacggccaccgcgaggagggcaag
taccgccacaacgtgctggtcaaggacaccaagcgccgcatgctgcagctcaagagcaac
aaggtccgccagaaagtggagcacagtgtggagggtgcccagcgcgccgctgctatcgcg
cgccagaaggccgagattgccgcctccaggacaagccacgccaaggccaaagctgaggca
gcggaacaggccgccctggctgccaaccaggagtccaacattgctcgcactttggccagg
gagctggctccggacttctaccagccaggtccggaatatcagaagcgccggctgctgcag
gagatcctggagaactcggagagcctgctggagccccccgaccggggcgccggcgcagcg
ggcctcccacagccgccccgcgagagcccgcagctgcacgagcgtgagacccctcggccc
gagggtggctccccgtcaccggccgggacgcccccgcagcccaagcggcccaggcccggg
gtgtccaaggacggcctgctgagcccaggcgcctggaacggcgagcccagcggtgagggc
agccggtcagtcactccgtccgagggcgcgggccgccgcagccccgcgcgtccagccacc
gagcgcatggccatcgaggctctgcaggcaccgcctgcgccgtcgcgggagccggaggtg
gcgctttaccagggctaccacagctatgctgtgcgcaccacgccgcccgagcccccaccc
tttgaggaccagcccgagcccgaggtctccgggtccgagtccgcgccctcgtccccggcc
accgccccgctgcaggcccccacgctccgaggccccgagcctgcacgcgagacccccgcc
aagctggagcccaagcccatcatccccaaagccgagcccagggccaaggcccgcaagact
gaggctcgagggctgaccaaggcgggggccaagaagaaggcgcggaaggaggccgcactg
gcggcagaggcggaggtggaggtggaagaggtccccaacaccatcctcatctgcatggtg
atcctgctgaacatcggcctggccatcctctttgttcacctcctgacctga

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Ontology (1)   
   KEGG BRITE (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (18)   
   RefSeq(nuc) (4)   
   GenBank (7)   
   EMBL (7)   
3D Structure (2)   
   PDB (2)   
Protein domain (1)   
   Pfam (1)   
All databases (56)   

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