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Jph3 Gene Detail
Summary
  • Symbol
    Jph3
  • Name
    junctophilin 3
  • Synonyms
    JP-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891497
    NCBI Gene: 57340
  • Gene Overview
    MyGene.info: JPH3
Location & Maps
more
  • Sequence Map
    Chr8:121729623-121794276 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64654 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    JPH3, junctophilin 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    JPH3, junctophilin 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAGL237, HDL2, JP3, JP-3, TNRC22
  • Links
    NCBI Gene ID: 57338
    neXtProt AC: NX_Q8WXH2

  • Chr Location
    16q24.3; chr16:87601835-87698156 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human JPH3 associations

Human Disease Mouse Models
       Huntington Disease-Like 2; HDL2   OMIM: 606438 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    23 phenotypes from multigenic genotypes
    1 images
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036743 VEGA Gene Model | MGI Sequence Detail 64654 C57BL/6J ±  kb
transcript OTTMUST00000094248 VEGA | MGI Sequence Detail 3637 Not Applicable  
polypeptide OTTMUSP00000052376 VEGA | MGI Sequence Detail 744 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    900 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Other 1

    Microarray probesets 6
References
more
  • Summaries
    All 27
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:63789 Fadeel B, et al., The most unkindest cut of all: on the multiple roles of mammalian caspases. Leukemia. 2000 Aug;14(8):1514-25
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory