Gene

jph2

ID
ZDB-GENE-030131-9848
Name
junctophilin 2
Symbol
jph2 Nomenclature History
Previous Names
  • cb454 (1)
  • im:7137591
  • sb:cb454
  • wu:fa07c08
  • wu:fb74g06
  • zgc:162172
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to localize to several cellular components, including endoplasmic reticulum; endoplasmic reticulum membrane; and junctional membrane complex. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy 17. Is expressed in adaxial cell; cardiovascular system; musculature system; and somite. Orthologous to human JPH2 (junctophilin 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With jph2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypertrophic cardiomyopathy 17 Alliance Cardiomyopathy, hypertrophic, 17 613873
Cardiomyopathy, dilated, 2E 619492
Associated With jph2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR017191 Junctophilin
Repeat IPR003409 MORN motif
Domain Details Per Protein
Protein Length Junctophilin MORN motif
UniProtKB:Q58ES2 671
UniProtKB:A4QNV2 781
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations