ENSG00000149596


Homo sapiens

Features
Gene ID: ENSG00000149596
  
Biological name :JPH2
  
Synonyms : JPH2 / junctophilin 2 / Q9BR39
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: q13.12
Gene start: 44111695
Gene end: 44187578
  
Corresponding Affymetrix probe sets: 1553174_at (Human Genome U133 Plus 2.0 Array)   220385_at (Human Genome U133 Plus 2.0 Array)   229578_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000344590
Ensembl peptide - ENSP00000362071
NCBI entrez gene - 57158     See in Manteia.
OMIM - 605267
RefSeq - NM_020433
RefSeq - NM_175913
RefSeq Peptide - NP_065166
RefSeq Peptide - NP_787109
swissprot - Q9BR39
Ensembl - ENSG00000149596
  
Related genetic diseases (OMIM): 613873 - Cardiomyopathy, hypertrophic, 17, 613873
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jph2ENSDARG00000028625Danio rerio
 ENSGALG00000023834Gallus gallus
 Jph2ENSMUSG00000017817Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
JPH1 / Q9HDC5 / junctophilin 1ENSG0000010436948
JPH3 / Q8WXH2 / junctophilin 3ENSG0000015411846
JPH4 / Q96JJ6 / junctophilin 4ENSG0000009205136


Protein motifs (from Interpro)
Interpro ID Name
 IPR003409  MORN motif
 IPR017191  Junctophilin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0055024 regulation of cardiac muscle tissue development IEA
 biological_processGO:0055074 calcium ion homeostasis IDA
 biological_processGO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS
 biological_processGO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0060402 calcium ion transport into cytosol TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014701 junctional sarcoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030314 junctional membrane complex IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0001786 phosphatidylserine binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA
 molecular_functionGO:0010314 phosphatidylinositol-5-phosphate binding IDA
 molecular_functionGO:0015278 calcium-release channel activity IDA
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IDA
 molecular_functionGO:0070273 phosphatidylinositol-4-phosphate binding IDA
 molecular_functionGO:0070300 phosphatidic acid binding IDA
 molecular_functionGO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001712 Left ventricular hypertrophy 
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 HP:0001962 Palpitations 
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 HP:0002094 Dyspnea 
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 HP:0004756 Ventricular tachycardia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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