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    JPH2 junctophilin 2 [ Homo sapiens (human) ]

    Gene ID: 57158, updated on 5-May-2024

    Summary

    Official Symbol
    JPH2provided by HGNC
    Official Full Name
    junctophilin 2provided by HGNC
    Primary source
    HGNC:HGNC:14202
    See related
    Ensembl:ENSG00000149596 MIM:605267; AllianceGenome:HGNC:14202
    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
    JP2; JP-2; CMD2E; CMH17
    Summary
    Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 14.9), prostate (RPKM 9.1) and 11 other tissues See more
    Orthologs
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    Genomic context

    See JPH2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44106590..44187188, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (45841151..45921818, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42735230..42815828, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42543229-42543946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42543947-42544664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42564724-42565224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42565225-42565725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42571264-42571764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17918 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:42583279-42584478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42584612-42585246 Neighboring gene TOX high mobility group box family member 2 Neighboring gene Sharpr-MPRA regulatory region 6747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42634840-42635340 Neighboring gene RNA, 7SL, cytoplasmic 443, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42696545-42697061 Neighboring gene Sharpr-MPRA regulatory region 7745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42739928-42740441 Neighboring gene Sharpr-MPRA regulatory region 3924 Neighboring gene uncharacterized LOC124904909 Neighboring gene JPH2 intron CAGE-defined T cell enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr20:42795218-42795478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42806021-42806521 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42809003-42809909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42810816-42811722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:42832370-42833569 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42838821-42839440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12940 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42860439-42861068 Neighboring gene OSER1 divergent transcript Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42875650-42876448 Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:42900885-42901394 Neighboring gene Sharpr-MPRA regulatory region 2613 Neighboring gene ganglioside induced differentiation associated protein 1 like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiomyopathy, dilated, 2E
    MedGen: C5561970 OMIM: 619492 GeneReviews: Not available
    Compare labs
    Hypertrophic cardiomyopathy 17
    MedGen: C3151264 OMIM: 613873 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ40969

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Z disc 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 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    junctophilin-2
    Names
    junctophilin type 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031867.1 RefSeqGene

      Range
      5001..80882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_394

    mRNA and Protein(s)

    1. NM_020433.5NP_065166.2  junctophilin-2 isoform 1

      See identical proteins and their annotated locations for NP_065166.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL034419, AL035447, AW014086, BC029957, BC043206
      Consensus CDS
      CCDS13325.1
      UniProtKB/Swiss-Prot
      E1P5X1, O95913, Q5JY74, Q9BR39, Q9UJN4
      Related
      ENSP00000362071.3, ENST00000372980.4
      Conserved Domains (1) summary
      pfam02493
      Location:106128
      MORN; MORN repeat
    2. NM_175913.4NP_787109.2  junctophilin-2 isoform 2

      See identical proteins and their annotated locations for NP_787109.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AL035447, AL132999
      Consensus CDS
      CCDS13326.1
      UniProtKB/Swiss-Prot
      Q9BR39
      Related
      ENSP00000344590.3, ENST00000342272.3
      Conserved Domains (1) summary
      PLN03185
      Location:4127
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44106590..44187188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723833.5XP_006723896.1  junctophilin-2 isoform X1

      Conserved Domains (1) summary
      PLN03185
      Location:4133
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      45841151..45921818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323741.1XP_054179716.1  junctophilin-2 isoform X1