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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

Protein SuperFamily: junctophilin
Gene Tree: Jph2

Human
homologs
Human Homolog JPH2, junctophilin 2
NCBI Gene ID 57158
neXtProt AC  NX_Q9BR39
Human Synonyms  CMH17, JP2, JP-2
Human Chr (Location)  20q13.12; chr20:44111697-44187578 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human JPH2
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from APF )
 
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 178 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: (3 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(23) cDNA(22) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000001147 (Evidence)
Ensembl Gene ModelENSMUSG00000017817 (Evidence)
Entrez Gene59091 (Evidence)
UniGene34459
DFCITC1584541, TC1587660
DoTSDT.101362400, DT.481120, DT.488875
NIA Mouse Gene IndexU023613
Consensus CDS ProjectCCDS17008.1
International Mouse Knockout Project StatusJph2
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(33)
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
10/08/2014
MGI 5.20
The Jackson Laboratory