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    JPH4 junctophilin 4 [ Homo sapiens (human) ]

    Gene ID: 84502, updated on 17-Jun-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
    mouse all
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    Genomic context

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    See JPH4 in Genome Data Viewer
    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

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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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