ENSMUSG00000017817


Mus musculus

Features
Gene ID: ENSMUSG00000017817
  
Biological name :Jph2
  
Synonyms : Jph2 / Junctophilin-2 / Q9ET78
  
Possible biological names infered from orthology : Q9BR39
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: H3
Gene start: 163336242
Gene end: 163397993
  
Corresponding Affymetrix probe sets: 10489355 (MoGene1.0st)   10489357 (MoGene1.0st)   1421453_at (Mouse Genome 430 2.0 Array)   1455404_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000017961
Ensembl peptide - ENSMUSP00000105052
NCBI entrez gene - 59091     See in Manteia.
MGI - MGI:1891496
RefSeq - XM_006499972
RefSeq - NM_001205076
RefSeq - NM_021566
RefSeq Peptide - NP_067541
RefSeq Peptide - NP_001192005
swissprot - Q9ET78
Ensembl - ENSMUSG00000017817
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jph2ENSDARG00000028625Danio rerio
 ENSGALG00000023834Gallus gallus
 JPH2ENSG00000149596Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Jph1 / Q9ET80 / Junctophilin-1 / Q9HDC5*ENSMUSG0000004268647
Jph3 / Q9ET77 / Junctophilin-3 / Q8WXH2*ENSMUSG0000002531845
Jph4 / Q80WT0 / Junctophilin-4 / Q96JJ6*ENSMUSG0000002220836


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 IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0055024 regulation of cardiac muscle tissue development IMP
 biological_processGO:0055074 calcium ion homeostasis ISO
 biological_processGO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity ISO
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum TAS
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030314 junctional membrane complex IMP
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0001786 phosphatidylserine binding ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS
 molecular_functionGO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding ISO
 molecular_functionGO:0010314 phosphatidylinositol-5-phosphate binding ISS
 molecular_functionGO:0015278 calcium-release channel activity IMP
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding ISS
 molecular_functionGO:0070273 phosphatidylinositol-4-phosphate binding ISS
 molecular_functionGO:0070300 phosphatidic acid binding ISS
 molecular_functionGO:0080025 phosphatidylinositol-3,5-bisphosphate binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
Show

Allelic Composition: Irf8tm1Hor/Irf8+
Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Irf8tm1Hor/Irf8+
Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
Show

Allelic Composition: Irf8tm1Hor/Irf8+
Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Irf8tm1Hor/Irf8+
Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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