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Jph2
Gene Detail
Symbol

Name
ID
Jph2
junctophilin 2
MGI:1891496
Synonyms
1110002E14Rik, JP-2
Feature Type
protein coding gene
Genetic Map
Chromosome 2
84.22 cM, cytoband H3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:163336242-163397949 bp, - strand
From VEGA annotation of GRCm38

  61708 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10714  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: JPH2
Protein SuperFamily: junctophilin
Gene Tree: Jph2

Human
homologs
JPH2, junctophilin 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 57158
neXtProt AC: NX_Q9BR39

Human Synonyms: CMH17, JP2, JP-2

Human Chr (Location): 20q13.12; chr20:44111697-44187578 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human JPH2

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5.
 
Interactions
Jph2 interacts with 177 markers (Mir1b, Mir15b, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process calcium ion homeostasis, calcium ion transmembrane transport, ...
Component cytosol, endoplasmic reticulum, ...
Function calcium-release channel activity, phosphatidic acid binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (60)    Tissues (20)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
Northern blot 36
Western blot 21
cDNA source data(21)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase jph2 ; ZFIN jph2    NEW 
Molecular
reagents
All nucleic(23) cDNA(22) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000001147 (Evidence)
Ensembl Gene Model ENSMUSG00000017817 (Evidence)
Entrez Gene 59091 (Evidence)
UniGene 34459
DFCI TC1587660, TC1584541
DoTS DT.101362400, DT.481120, DT.488875
NIA Mouse Gene Index U023613
Consensus CDS Project CCDS17008.1
International Mouse Phenotyping Consortium Status Jph2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001147 VEGA Gene Model | MGI Sequence Detail 61708 C57BL/6J ±  kb
transcript OTTMUST00000002237 VEGA | MGI Sequence Detail 4211 Not Applicable 
polypeptide OTTMUSP00000001086 VEGA | MGI Sequence Detail 696 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(7) UniProt(1)
Polymorphisms
SNPs within 2kb(295 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017191 Junctophilin
InterPro IPR003409 MORN motif
Protein Ontology PR:000009223 junctophilin-2
References
(Earliest) J:63879 Takeshima H, et al., Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell. 2000 Jul;6(1):11-22
(Latest) J:218693 Wang W, et al., Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice. Am J Physiol Heart Circ Physiol. 2014 Nov 1;307(9):H1317-26
All references(34)
Other
accession IDs
MGI:1915700

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory