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    JPH3 junctophilin 3 [ Homo sapiens (human) ]

    Gene ID: 57338, updated on 12-Mar-2017
    Official Symbol
    JPH3provided by HGNC
    Official Full Name
    junctophilin 3provided by HGNC
    Primary source
    HGNC:HGNC:14203
    See related
    Ensembl:ENSG00000154118 MIM:605268; Vega:OTTHUMG00000137656
    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
    JP3; HDL2; JP-3; TNRC22; CAGL237
    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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    16q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (87601835..87698156)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87635441..87731762)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC-type containing 14 Neighboring gene nuclear receptor subfamily 3 group C member 1 pseudogene 1 Neighboring gene uncharacterized LOC101928737 Neighboring gene uncharacterized LOC100129215 Neighboring gene uncharacterized LOC105371397 Neighboring gene kelch domain containing 4 Neighboring gene uncharacterized LOC105371399 Neighboring gene uncharacterized LOC102724467

    • 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
    Huntington disease-like 2
    MedGen: C1847987 OMIM: 606438 GeneReviews: Huntington Disease-Like 2
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ44707

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    learning IEA
    Inferred from Electronic Annotation
    more info
     
    locomotion IEA
    Inferred from Electronic Annotation
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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-3
    Names
    junctophilin type 3
    trinucleotide repeat containing 22

    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_009797.1 RefSeqGene

      Range
      4995..100264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271604.2NP_001258533.1  junctophilin-3 isoform 2

      See identical proteins and their annotated locations for NP_001258533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (2) with a distinct C-terminus containing a 13 aa polyalanine stretch compared to isoform 1. This variant is described in PMID:11694876.
      Source sequence(s)
      AB593088, BC008690
      UniProtKB/TrEMBL
      F8W9A3, Q96HD8
      Conserved Domains (1) summary
      pfam02493
      Location:107128
      MORN; MORN repeat
    2. NM_001271605.1NP_001258534.1  junctophilin-3 isoform 3

      See identical proteins and their annotated locations for NP_001258534.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (3) with a distinct C-terminus compared to isoform 1. This variant is described in PMID:11694876.
      Source sequence(s)
      AB593088, BC008690
      UniProtKB/TrEMBL
      F8W9A3, Q96HD8
      Conserved Domains (1) summary
      PLN03185
      Location:5132
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    3. NM_020655.3NP_065706.2  junctophilin-3 isoform 1

      See identical proteins and their annotated locations for NP_065706.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB593088, AK295518, AW954561, BC036533, BQ014355
      Consensus CDS
      CCDS10962.1
      UniProtKB/Swiss-Prot
      Q8WXH2
      UniProtKB/TrEMBL
      B4DIC1, F8W9A3
      Related
      ENSP00000284262, OTTHUMP00000175011, ENST00000284262, OTTHUMT00000269108
      Conserved Domains (1) summary
      pfam02493
      Location:311333
      MORN; MORN repeat

    RNA

    1. NR_073379.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and is alternately spliced at the 3' end compared to variant 1. The latter renders this variant a candidate for nonsense-mediated mRNA decay (NMD), hence it is represented as non-coding.
      Source sequence(s)
      AA813196, AK295518, BC036533, BG205692, BQ014355
      Related
      ENST00000537256

    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_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      87601835..87698156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023484.1XP_016878973.1  junctophilin-3 isoform X2

      Conserved Domains (1) summary
      PLN03185
      Location:5127
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    2. XM_017023483.1XP_016878972.1  junctophilin-3 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      89047216..89143211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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