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Jph3
Gene Detail
Symbol

Name
ID
Jph3
junctophilin 3
MGI:1891497
Synonyms
JP-3
Feature Type
protein coding gene
Genetic Map
Chromosome 8
70.73 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:121729623-121794276 bp, + strand
From VEGA annotation of GRCm38

  64654 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10762  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: JPH3
Protein SuperFamily: junctophilin
Gene Tree: Jph3

Human
homologs
JPH3, junctophilin 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 57338
neXtProt AC: NX_Q8WXH2

Human Synonyms: CAGL237, HDL2, JP3, JP-3, TNRC22

Human Chr (Location): 16q24.3; chr16:87601835-87698156 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human JPH3

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(3) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination.
 
Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Jph3 interacts with 218 markers (Mir7-2, Mir7b, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process calcium ion transmembrane transport, exploration behavior, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function calcium-release channel activity
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (9)    Tissues (9)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 9
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase jph3    NEW 
Molecular
reagents
All nucleic(10) cDNA(9) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000036743 (Evidence)
Ensembl Gene Model ENSMUSG00000025318 (Evidence)
Entrez Gene 57340 (Evidence)
DFCI TC1581678, TC1683399
DoTS DT.101721556, DT.523723
NIA Mouse Gene Index U009901
Consensus CDS Project CCDS22728.1
International Mouse Phenotyping Consortium Status Jph3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036743 VEGA Gene Model | MGI Sequence Detail 64654 C57BL/6J ±  kb
transcript OTTMUST00000094248 VEGA | MGI Sequence Detail 3637 Not Applicable 
polypeptide OTTMUSP00000052376 VEGA | MGI Sequence Detail 744 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(903 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017191 Junctophilin
InterPro IPR003409 MORN motif
Protein Ontology PR:000009224 junctophilin-3
References
(Earliest) J:63789 Fadeel B, et al., The most unkindest cut of all: on the multiple roles of mammalian caspases. Leukemia. 2000 Aug;14(8):1514-25
(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(30)

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