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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:122457298-122517822 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 70.73 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1978 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891497
 protein coding gene Chr8:122456362-122521015 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034215
 protein coding gene Chr8:125258439-125324173 (+)
A/J MGP_AJ_G0034195
 protein coding gene Chr8:120052448-120118903 (+)
AKR/J MGP_AKRJ_G0034122
 protein coding gene Chr8:123575823-123640642 (+)
BALB/cJ MGP_BALBcJ_G0034189
 protein coding gene Chr8:120258266-120323293 (+)
C3H/HeJ MGP_C3HHeJ_G0033900
 protein coding gene Chr8:124276883-124341155 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034709
 protein coding gene Chr8:129432301-129499927 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031651
 protein coding gene Chr8:112888455-112953580 (+)
CAST/EiJ MGP_CASTEiJ_G0033227
 protein coding gene Chr8:124326244-124393175 (+)
CBA/J MGP_CBAJ_G0033873
 protein coding gene Chr8:134197133-134264450 (+)
DBA/2J MGP_DBA2J_G0034029
 protein coding gene Chr8:119246845-119311279 (+)
FVB/NJ MGP_FVBNJ_G0033972
 protein coding gene Chr8:118365848-118430925 (+)
LP/J MGP_LPJ_G0034118
 protein coding gene Chr8:125388749-125453173 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034019
 protein coding gene Chr8:136417067-136483684 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034727
 protein coding gene Chr8:123747060-123813138 (+)
PWK/PhJ MGP_PWKPhJ_G0032929
 protein coding gene Chr8:119061549-119128445 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032769
 protein coding gene Chr8:122466477-122532048 (+)
WSB/EiJ MGP_WSBEiJ_G0033343
 protein coding gene Chr8:124502229-124568043 (+)



Homology
more
  • Human Ortholog
    JPH3, junctophilin 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    JPH3, junctophilin 3
  • Synonyms
    CAGL237, HDL2, JP-3, JP3, TNRC22
  • Links
    NCBI Gene ID: 57338
    neXtProt AC: NX_Q8WXH2
    UniProt: Q8WXH2

  • Chr Location
    16q24.2; chr16:87601835-87698156 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human JPH3 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    1 images
    9 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 impaired balance and motor coordination.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    4
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
    797
  • Tissues
    61
  • cDNA Data
    11
  • Literature Summary
    4
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 57340 NCBI Gene Model | MGI Sequence Detail 60525 C57BL/6J ±  kb
transcript NM_020605 RefSeq | MGI Sequence Detail 3903 C57BL/6  
polypeptide Q9ET77 UniProt | EBI | MGI Sequence Detail 744 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 11
    Other 2

    Microarray probesets 6
References
more
  • Summaries
    All 32
    Developmental Gene Expression 4
    Gene Ontology 4
    Phenotypes 9
  • 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:339532 Li J, et al., Integrative genomic analysis of early neurogenesis reveals a temporal genetic program for differentiation and specification of preplate and Cajal-Retzius neurons. PLoS Genet. 2021 Mar;17(3):e1009355
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
12/10/2024
MGI 6.24 		The Jackson Laboratory