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 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; chr20:42740337-42816218 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human JPH2

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5.

 

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	calcium ion homeostasis, elevation of cytosolic calcium ion concentration, ...
Component	endoplasmic reticulum, integral to membrane, ...
Function	calcium-release channel activity, protein binding

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (60)    Tissues (19)   
Theiler Stages: 15, 20, 24, 28

Assay Type	Results
Immunohistochemistry	3
Northern blot	36
Western blot	21

cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1584541, TC1587660
DoTS	DT.101362400, DT.481120, DT.488875
NIA Mouse Gene Index	U023613
Consensus CDS Project	CCDS17008.1
International Mouse Knockout Project Status	Jph2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000001147	VEGA Gene Model | MGI Sequence Detail	61708	C57BL/6J
transcript	OTTMUST00000002237	VEGA | MGI Sequence Detail	4211	Not Applicable
polypeptide	OTTMUSP00000001086	VEGA | MGI Sequence Detail	696	Not Applicable

All sequences(29) RefSeq(5) UniProt(1)

Polymorphisms

SNPs(247 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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