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Jph4 junctophilin 4 [ Mus musculus (house mouse) ]

Gene ID: 319984, updated on 11-Apr-2024

Summary

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Official Symbol
Jph4provided by MGI
Official Full Name
junctophilin 4provided by MGI
Primary source
MGI:MGI:2443113
See related
Ensembl:ENSMUSG00000022208 AllianceGenome:MGI:2443113
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
JP-4; JPHL1; 9330157P13Rik
Summary
Acts upstream of or within several processes, including learning; neuromuscular process controlling balance; and regulation of store-operated calcium entry. Located in dendritic shaft and smooth endoplasmic reticulum. Is expressed in hindlimb mesenchyme; nervous system; and retina. Orthologous to human JPH4 (junctophilin 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 53.4), CNS E18 (RPKM 50.7) and 7 other tissues See more
Orthologs
human all
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Genomic context

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See Jph4 in Genome Data Viewer
Location:
14 C3; 14 28.07 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (55344283..55354392, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (55106826..55116935, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene zinc finger homeobox 2 Neighboring gene zinc finger homeobox 2, opposite strand Neighboring gene STARR-seq mESC enhancer starr_36762 Neighboring gene STARR-positive B cell enhancer ABC_E11569 Neighboring gene STARR-positive B cell enhancer ABC_E9405 Neighboring gene thiamine triphosphatase Neighboring gene adaptor protein complex AP-1, gamma 2 subunit Neighboring gene predicted gene, 53860 Neighboring gene STARR-positive B cell enhancer mm9_chr14:55780296-55780597 Neighboring gene predicted gene, 46455 Neighboring gene predicted gene, 23596

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Junctophilin-4, a component of the endoplasmic reticulum-plasma membrane junctions, regulates Ca2+ dynamics in T cells. Woo JS, et al. Proc Natl Acad Sci U S A, 2016 Mar 8. PMID 26929330, Free PMC Article
  2. Method for systematic targeted isolation of homologous cDNA fragments in a multiplex format. Ohara R, et al. Biotechniques, 2004 May. PMID 15152599
  3. Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins. Moriguchi S, et al. Proc Natl Acad Sci U S A, 2006 Jul 11. PMID 16809425, Free PMC Article
  4. Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins. Ikeda A, et al. Biochem Biophys Res Commun, 2007 Nov 23. PMID 17904530
  5. Coexpression of junctophilin type 3 and type 4 in brain. Nishi M, et al. Brain Res Mol Brain Res, 2003 Oct 21. PMID 14559359

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
    Title: Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
  2. Data show that junctophilin-4 (JP4) is expressed in T cells and localized at the endoplasmic reticulum-plasma membrane junctions to regulate Ca(2+) signaling.
    Title: Junctophilin-4, a component of the endoplasmic reticulum-plasma membrane junctions, regulates Ca2+ dynamics in T cells.
  3. Gene expression was slightly altered in the JP-3 and JP-4 Knockout cerebellum.
    Title: Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins.
  4. Jph4 seems to have an essential role in neural excitability fundamental to plasticity and integrated functions.
    Title: Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within learning IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within regulation of cytokine production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of synaptic plasticity IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in dendritic shaft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
junctophilin-4
Names
junctophilin-like 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_177049.5 → NP_796023.2  junctophilin-4

    See identical proteins and their annotated locations for NP_796023.2

    Status: VALIDATED

    Source sequence(s)
    AB099712, AC157212
    Consensus CDS
    CCDS27109.1
    UniProtKB/Swiss-Prot
    Q69FB2, Q80WT0, Q8BMI1
    Related
    ENSMUSP00000022819.6, ENSMUST00000022819.13
    Conserved Domains (2) summary
    smart00698
    Location:128 → 143
    MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
    pfam02493
    Location:305 → 327
    MORN; MORN repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    55344283..55354392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003829.2: Suppressed sequence

    Description
    NM_001003829.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80WT0.1 GenPept UniProtKB/Swiss-Prot:Q80WT0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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