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Jph2 Gene Detail
Summary
  • Symbol
    Jph2
  • Name
    junctophilin 2
  • Synonyms
    1110002E14Rik, JP-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891496
    NCBI Gene: 59091
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:163178162-163239913 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 84.22 cM, cytoband H3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1995 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891496
 protein coding gene Chr2:163178162-163239969 (-)
129S1/SvImJ ENSMUSG00200015730
 protein coding gene Chr2:160079159-160140867 (-)
A/J ENSMUSG00195020040
 protein coding gene Chr2:160419964-160481732 (-)
AKR/J ENSMUSG00220013825
 protein coding gene Chr2:159740887-159802667 (-)
BALB/cJ ENSMUSG00180046493
 protein coding gene Chr2:159873728-159935484 (-)
C3H/HeJ ENSMUSG00175050035
 protein coding gene Chr2:160623470-160685236 (-)
C57BL/6NJ ENSMUSG00215036086
 protein coding gene Chr2:160047987-160109740 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024613
 protein coding gene Chr2:155169346-155236153 (-)
CAST/EiJ ENSTCUG00005044716
 protein coding gene Chr2:158978499-159040178 (-)
CBA/J ENSMUSG00210015345
 protein coding gene Chr2:160554540-160616279 (-)
DBA/2J ENSMUSG00185045570
 protein coding gene Chr2:160284235-160345991 (-)
FVB/NJ ENSMUSG00205028105
 protein coding gene Chr2:159313553-159375299 (-)
JF1/MsJ ENSUMUG00000007350
 protein coding gene Chr2:159929438-159991463 (-)
LP/J ENSMUSG00230042204
 protein coding gene Chr2:161848816-161910523 (-)
NOD/ShiLtJ ENSMUSG00190040707
 protein coding gene Chr2:159924186-159985946 (-)
NZO/HlLtJ ENSMUSG00225049985
 protein coding gene Chr2:169840952-169902700 (-)
PWK/PhJ ENSLUMG00010040461
 protein coding gene Chr2:159835236-159897251 (-)
SPRET/EiJ ENSMSPG00010026951
 protein coding gene Chr2:162611710-162671083 (-)
WSB/EiJ ENSIUOG00005038697
 protein coding gene Chr2:159677335-159738972 (-)



Homology
more
  • Human Ortholog
    JPH2, junctophilin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    JPH2, junctophilin 2
  • Synonyms
    CMD2E, CMH17, JP-2, JP2
  • Links
    NCBI Gene ID: 57158
    UniProt: Q9BR39

  • Chr Location
    20q13.12; chr20:44106590-44189032 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human JPH2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    51
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    692
  • Tissues
    30
  • cDNA Data
    22
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000017817 Ensembl Gene Model | MGI Sequence Detail 61752 C57BL/6J ±  kb
    transcript ENSMUST00000109425 Ensembl | MGI Sequence Detail 4155 Not Applicable  
    polypeptide ENSMUSP00000105052 Ensembl | MGI Sequence Detail 696 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 23
      Primer pair 1
      Other 1
      Antibodies 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1915700
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 6
      Gene Ontology 12
      Phenotypes 11
    • 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:371831 Paulke NJ, et al., Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy. Circ Res. 2024 Aug 16;135(5):554-574
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory