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    JPH2 junctophilin 2 [ Homo sapiens (human) ]

    Gene ID: 57158, updated on 11-May-2017
    Official Symbol
    JPH2provided by HGNC
    Official Full Name
    junctophilin 2provided by HGNC
    Primary source
    HGNC:HGNC:14202
    See related
    Ensembl:ENSG00000149596 MIM:605267; Vega:OTTHUMG00000033037
    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; 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]
    Orthologs
    Location:
    20q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (44111697..44187578, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42740337..42816218, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1728 Neighboring gene TOX high mobility group box family member 2 Neighboring gene RNA, 7SL, cytoplasmic 443, pseudogene Neighboring gene OSER1 antisense RNA 1 (head to head) Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene ganglioside induced differentiation associated protein 1 like 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial hypertrophic cardiomyopathy 17
    MedGen: C3151264 OMIM: 613873 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • FLJ40969

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    junctional membrane complex IEA
    Inferred from Electronic Annotation
    more info
     
    junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    junctophilin-2
    Names
    junctophilin type 2

    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_020433.4NP_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) is the longer variant and encodes the longer isoform (1).
      Source sequence(s)
      AL034419, AL035447, AW014086, BC029957, BC043206
      Consensus CDS
      CCDS13325.1
      UniProtKB/Swiss-Prot
      Q9BR39
      UniProtKB/TrEMBL
      Q86VZ3
      Related
      ENSP00000362071.3, OTTHUMP00000031651, ENST00000372980.3, OTTHUMT00000080307
      Conserved Domains (1) summary
      pfam02493
      Location:106128
      MORN; MORN repeat
    2. NM_175913.3NP_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, OTTHUMP00000031652, ENST00000342272.3, OTTHUMT00000080308
      Conserved Domains (1) summary
      PLN03185
      Location:4127
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      44111697..44187578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723833.3XP_006723896.1  junctophilin-2 isoform X1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      42643539..42718371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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