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JPH4 junctophilin 4 [ Homo sapiens (human) ]

Gene ID: 84502, updated on 5-Mar-2024

Summary

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Official Symbol
JPH4provided by HGNC
Official Full Name
junctophilin 4provided by HGNC
Primary source
HGNC:HGNC:20156
See related
Ensembl:ENSG00000092051 MIM:619863; AllianceGenome:HGNC:20156
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JP4; JPHL1
Summary
This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Expression
Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23568038..23578790, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17768608..17779359, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24037247..24047999, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene thiamine triphosphatase Neighboring gene uncharacterized LOC124903289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24001492-24001992 Neighboring gene zinc finger homeobox 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24006625-24007504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24014522-24015146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24017019-24017642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24019766-24020428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24024860-24025794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031286-24031786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031787-24032287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8175 Neighboring gene AP1G2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5612 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24046010-24046770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24054355-24054854 Neighboring gene Sharpr-MPRA regulatory region 10629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8178 Neighboring gene dehydrogenase/reductase 2 Neighboring gene uncharacterized LOC105370407

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Coexpression of junctophilin type 3 and type 4 in brain. Nishi M, et al. Brain Res Mol Brain Res, 2003 Oct 21. PMID 14559359
  2. Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability. Sahu G, et al. Cell Rep, 2019 Aug 27. PMID 31461656
  3. New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. Yamazaki D, et al. Pharmacol Ther, 2009 Mar. PMID 19095005
  4. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
  5. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. reviews the structure and function of human junctophilins
    Title: New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
  2. reports the gene structure of human JPH4
    Title: Coexpression of junctophilin type 3 and type 4 in brain.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34253, KIAA1831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion transport into cytosol TAS
Traceable Author Statement
more info
 PubMed 
involved_in learning IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in dendritic shaft 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 junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in smooth endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
junctophilin-4
Names
JP-4
junctophilin like 1
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_001146028.2 → NP_001139500.1  junctophilin-4

    See identical proteins and their annotated locations for NP_001139500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB058734
    Consensus CDS
    CCDS9603.1
    UniProtKB/Swiss-Prot
    D3DS53, Q8ND44, Q96DQ0, Q96JJ6
    UniProtKB/TrEMBL
    A8K396
    Related
    ENSP00000348648.4, ENST00000356300.9
    Conserved Domains (2) summary
    PLN03185
    Location:5 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    PRK07003
    Location:369 → 606
    PRK07003; DNA polymerase III subunit gamma/tau

  2. NM_032452.3 → NP_115828.2  junctophilin-4

    See identical proteins and their annotated locations for NP_115828.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB058734, BC055429, DA108605
    Consensus CDS
    CCDS9603.1
    UniProtKB/Swiss-Prot
    D3DS53, Q8ND44, Q96DQ0, Q96JJ6
    UniProtKB/TrEMBL
    A8K396
    Related
    ENSP00000380307.3, ENST00000397118.7
    Conserved Domains (2) summary
    PLN03185
    Location:5 → 143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    PRK07003
    Location:369 → 606
    PRK07003; DNA polymerase III subunit gamma/tau

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23568038..23578790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17768608..17779359 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JJ6.2 GenPept UniProtKB/Swiss-Prot:Q96JJ6

Gene LinkOut

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

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