About   Help   FAQ
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

Protein SuperFamily: junctophilin
Gene Tree: Jph3

Human
homologs
Human Homolog JPH3, junctophilin 3
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
Disease Associations  (1) Diseases Associated with Human JPH3
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination.
 
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)   
Theiler Stages: 28
Assay TypeResults
Northern blot 9
cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(10) cDNA(9) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000036743 (Evidence)
Ensembl Gene ModelENSMUSG00000025318 (Evidence)
Entrez Gene57340 (Evidence)
DFCITC1581678, TC1683399
DoTSDT.101721556, DT.523723
NIA Mouse Gene IndexU009901
Consensus CDS ProjectCCDS22728.1
International Mouse Knockout Project StatusJph3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036743 VEGA Gene Model | MGI Sequence Detail 64654 C57BL/6J ±  kb
transcript OTTMUST00000094249 VEGA | MGI Sequence Detail 2852 Not Applicable 
polypeptide OTTMUSP00000052377 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(32)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/02/2014
MGI 5.19
The Jackson Laboratory