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    JPH3 junctophilin 3 [ Homo sapiens (human) ]

    Gene ID: 57338, updated on 10-Dec-2024

    Summary

    Official Symbol
    JPH3provided by HGNC
    Official Full Name
    junctophilin 3provided by HGNC
    Primary source
    HGNC:HGNC:14203
    See related
    Ensembl:ENSG00000154118 MIM:605268; AllianceGenome:HGNC:14203
    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]
    Expression
    Biased expression in brain (RPKM 10.9), adrenal (RPKM 0.6) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See JPH3 in Genome Data Viewer
    Location:
    16q24.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (87601835..87698156)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (93673276..93769801)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87635441..87731762)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903748 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:87573595-87573826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87575935-87576435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87575434-87575934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87583356-87584260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87585377-87585883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87585884-87586389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87590715-87591214 Neighboring gene Sharpr-MPRA regulatory region 12005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87609835-87610489 Neighboring gene uncharacterized LOC124903749 Neighboring gene uncharacterized LOC124903750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87634653-87635215 Neighboring gene junctophilin 3 repeat instability region Neighboring gene MPRA-validated peak2658 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87648002-87648502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87653056-87653900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87653901-87654745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11324 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:87691195-87691930 and GRCh37_chr16:87691931-87692664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87692665-87693398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87695971-87696921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87709103-87709651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87713011-87713917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87718372-87718956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87718957-87719539 Neighboring gene uncharacterized LOC100129215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11327 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:87736382-87737581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87738231-87738840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87738841-87739448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87742491-87743098 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:87750381-87750569 Neighboring gene kelch domain containing 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87758101-87759300 Neighboring gene uncharacterized LOC124903752 Neighboring gene uncharacterized LOC124903751

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1258 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ44707

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in calcium ion transport into cytosol PubMed 
    involved_in exploration behavior  
    involved_in learning  
    involved_in locomotion  
    involved_in memory  
    involved_in neuromuscular process controlling balance  
    involved_in regulation of neuronal synaptic plasticity  
    involved_in regulation of ryanodine-sensitive calcium-release channel activity PubMed 
    involved_in regulation of synaptic plasticity  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane  
    part_of junctional membrane complex  
    located_in junctional sarcoplasmic reticulum membrane PubMed 
    located_in membrane PubMed 
    is_active_in plasma membrane  

    General protein information

    Preferred Names
    junctophilin-3
    Names
    junctophilin type 3
    trinucleotide repeat containing 22

    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_009797.1 RefSeqGene

      Range
      4616..100264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271604.4 → NP_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, AC092720, BC008690
      UniProtKB/TrEMBL
      F8W9A3
      Conserved Domains (1) summary
      pfam02493
      Location:107 → 128
      MORN; MORN repeat
    2. NM_001271605.3 → NP_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, AC092720, BC008690
      UniProtKB/TrEMBL
      F8W9A3, Q96HD8
      Conserved Domains (1) summary
      PLN03185
      Location:5 → 132
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
    3. NM_020655.4 → NP_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, AC092720, AK295518, AW954561, BC036533, BQ014355
      Consensus CDS
      CCDS10962.1
      UniProtKB/Swiss-Prot
      D3DUN2, Q8N471, Q8WXH2, Q9HDC3, Q9HDC4
      UniProtKB/TrEMBL
      B4DIC1
      Related
      ENSP00000284262.2, ENST00000284262.3
      Conserved Domains (1) summary
      pfam02493
      Location:311 → 333
      MORN; MORN repeat

    RNA

    1. NR_073379.3 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
      ENST00000537256.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      93673276..93769801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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