About   Help   FAQ
Jph4 Gene Detail
Summary
  • Symbol
    Jph4
  • Name
    junctophilin 4
  • Synonyms
    9330157P13Rik, JP-4, JPHL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443113
    NCBI Gene: 319984
  • Alliance
    genome feature page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:55344283-55354392 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 28.07 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    181 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443113
 protein coding gene Chr14:55344283-55354392 (-)
129S1/SvImJ ENSMUSG00200039513
 protein coding gene Chr14:43924241-43934350 (-)
A/J ENSMUSG00195028074
 protein coding gene Chr14:44148599-44158708 (-)
AKR/J ENSMUSG00220027599
 protein coding gene Chr14:43476511-43486620 (-)
BALB/cJ ENSMUSG00180050208
 protein coding gene Chr14:43772324-43782434 (-)
C3H/HeJ ENSMUSG00175047960
 protein coding gene Chr14:45454690-45464799 (-)
C57BL/6NJ ENSMUSG00215047483
 protein coding gene Chr14:43667430-43677538 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019289
 protein coding gene Chr14:46532677-46542759 (-)
CAST/EiJ ENSTCUG00005044711
 protein coding gene Chr14:45452052-45462175 (-)
CBA/J ENSMUSG00210037427
 protein coding gene Chr14:44135199-44145308 (-)
DBA/2J ENSMUSG00185050930
 protein coding gene Chr14:49194254-49204376 (-)
FVB/NJ ENSMUSG00205040464
 protein coding gene Chr14:43531848-43541957 (-)
JF1/MsJ ENSUMUG00000020574
 protein coding gene Chr14:60433711-60443790 (-)
LP/J ENSMUSG00230052718
 protein coding gene Chr14:61290126-61300235 (-)
NOD/ShiLtJ ENSMUSG00190026570
 protein coding gene Chr14:43892752-43902861 (-)
NZO/HlLtJ ENSMUSG00225045241
 protein coding gene Chr14:51588241-51598351 (-)
PWK/PhJ ENSLUMG00010045495
 protein coding gene Chr14:43357965-43368074 (-)
SPRET/EiJ ENSMSPG00010037162
 protein coding gene Chr14:46756199-46764949 (-)
WSB/EiJ ENSIUOG00005035955
 protein coding gene Chr14:43356959-43367103 (-)



Homology
more
  • Human Ortholog
    JPH4, junctophilin 4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    JPH4, junctophilin 4
  • Synonyms
    JP4, JPHL1
  • Links
    NCBI Gene ID: 84502
    UniProt: Q96JJ6

  • Chr Location
    14q11.2; chr14:23568038-23578790 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    1 images
    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.
Mice homozygous for a knock-out allele exhibit a reduction in endoplasmic reticulum Ca2+ content, store-operated Ca2+ entry and cytokine production in T cells and decreased ERK activation after TCR stimulation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    6
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
    886
  • Tissues
    97
  • cDNA Data
    14
  • Literature Summary
    5
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 319984 NCBI Gene Model | MGI Sequence Detail 10110 C57BL/6J ±  kb
transcript NM_177049 RefSeq | MGI Sequence Detail 4489 C57BL/6  
polypeptide Q80WT0 UniProt | EBI | MGI Sequence Detail 628 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Other 1
    Antibodies 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145632
References
more
  • Summaries
    All 39
    Developmental Gene Expression 5
    Gene Ontology 6
    Phenotypes 11
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory