ZFIN ID: ZDB-GENE-030131-9848
Gene Name: junctophilin 2
Gene Symbol: jph2    Nomenclature History

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Previous Names: cb454 (1), im:7137591, sb:cb454, wu:fa07c08, wu:fb74g06, zgc:162172

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Predicted to have calcium-release channel activity. Predicted to localize to several cellular components, including the 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: Alliance (1),  Gene:553333 (1),  Ensembl(GRCz11):ENSDARG00000028625 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa798 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa29982 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32459 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    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
    DISEASE ASSOCIATED WITH jph2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Cellular Component endoplasmic reticulum (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Family IPR017191 Junctophilin
    Repeat IPR003409 MORN motif
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA jph2-201 (1)    Ensembl 3105
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM jph2 No data available
    MARKER RELATIONSHIPS
    jph2 Contained in: [BAC] DKEY-18F23 (1) (order this)
    jph2 Encodes: [EST] cb454 (1) (order this), fa07c08 (1), fb74g06 (1), IMAGE:7137591 (1)
    [cDNA] MGC:162172 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001089364 (1) 3122 nt
    Genomic GenBank:BX465853 (1) 220945 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A4QNV2 (1) 781 aa
    Sequence Information (all 18)
    ORTHOLOGY for jph2 ( Chr: 23 )
    CITATIONS (22)