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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JPH3 Gene

protein-coding   GIFtS: 57
GCID: GC16P087636

junctophilin 3

(Previous name: trinucleotide repeat containing 22 )
(Previous symbol: TNRC22)
 Explore 13 diseases affiliated with
JPH3 via our new
 Human Malady Compendium 
Biological research products
for JPH3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Junctophilin 31 2     CAGL2371 2
JP31 2 3 5     Trinucleotide Repeat Containing 221 2
JP-31 2 3     Junctophilin Type 32 3
TNRC221 2 3     Junctophilin-31
HDL21 2 5     Trinucleotide Repeat-Containing Gene 22 Protein3

External Ids:    HGNC: 142031   Entrez Gene: 573382   Ensembl: ENSG000001541187   OMIM: 6052685   UniProtKB: Q8WXH23   

Export aliases for JPH3 gene to outside databases

Previous GC identifers: GC16P078973 GC16P088667 GC16P087377 GC16P087417 GC16P086194 GC16P073377


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JPH3:
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 expansions at the Huntington's disease (HD)-like 2 locus have been identified in this
gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described
for this gene. (provided by RefSeq, Oct 2012)

UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma
membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for
functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and
appears to have an active role in certain neurons involved in motor coordination and memory

Gene Wiki entry for JPH3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JPH3 gene promoter:
         Egr-1   POU3F1   NRSF form 1   HNF-4alpha2   NRSF form 2   HNF-4alpha1   Egr-2   PPAR-alpha   Zic1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJPH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for JPH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JPH3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24.3

JPH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JPH3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P087636:  view genomic region     (about GC identifiers)

Start:
87,635,441 bp from pter      End:
87,731,762 bp from pter
Size:
96,322 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2 (See protein sequence)
Recommended Name: Junctophilin-3  
Size: 748 amino acids; 81469 Da
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane;
Single-pass type IV membrane protein (By similarity). Note=Localized predominantly on the plasma membrane. The
transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the
plasma membrane (By similarity)
Secondary accessions: D3DUN2 Q8N471 Q9HDC3 Q9HDC4
Alternative splicing: 2 isoforms:  Q8WXH2-1   Q8WXH2-2   

Explore the universe of human proteins at neXtProt for JPH3: NX_Q8WXH2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXH2

  • JPH3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001258533.1  NP_001258534.1  NP_065706.2  

    ENSEMBL proteins: 
     ENSP00000284262  

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    Uscn Proteins for JPH3

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane ----
    GO:0005792microsome ----
    GO:0005886plasma membrane IEA--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS19095005


    JPH3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    JPH3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017191 Junctophilin
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q8WXH2

    ProtoNet protein and cluster: Q8WXH2

    1 Blocks protein family: IPB003409 MORN motif

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding,
    possibly by interacting with phospholipids (By similarity)
    Similarity: Belongs to the junctophilin family
    Similarity: Contains 8 MORN repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma
    membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for
    functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and
    appears to have an active role in certain neurons involved in motor coordination and memory

    miRNA
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    hsa-miR-323-3p hsa-miR-3130-5p hsa-miR-19b-2* hsa-miR-300 hsa-miR-449a hsa-miR-29b-1* hsa-miR-548m hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidJPH3 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH3

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0015278calcium-release channel activity IEA--


    JPH3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Jph3tm1Hta for JPH3
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jph3):
     behavior/neurological  growth/size  mortality/aging  nervous system  reproductive system 

    JPH3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JPH3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for JPH3 (Q8WXH21, 2, 3 ENSP000002842624) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51254 I2D: score=2 STRING: ENSP00000332973
    STK24Q9Y6E01, 3, ENSP000003657304EBI-1055254,EBI-740175 I2D: score=2 STRING: ENSP00000365730
    BGNP218103, ENSP000003273364I2D: score=1 STRING: ENSP00000327336
    JPH1ENSP000003444884STRING: ENSP00000344488
    JPH2ENSP000003620714STRING: ENSP00000362071
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007613memory IEA--
    GO:0035640exploration behavior IEA--
    GO:0040011locomotion IEA--
    GO:0048168regulation of neuronal synaptic plasticity IEA--
    GO:0060314regulation of ryanodine-sensitive calcium-release channel activity TAS19095005


    JPH3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    JPH3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JPH3
    1 Novoseek chemical compound relationship for JPH3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    it 15 90 2 11914418 (1), 18651325 (1)

    Search CenterWatch for drugs/clinical trials and news about JPH3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JPH3 gene (3 alternative transcripts): 
    NM_001271604.2  NM_001271605.1  NM_020655.3  

    Unigene Cluster for JPH3:

    Junctophilin 3
    Hs.592068  [show with all ESTs]
    Unigene Representative Sequence: AK126663
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537256(uc010vou.1) ENST00000301008 ENST00000284262(uc002fkd.3)
    ENST00000563609

    miRNA
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    hsa-miR-323-3p hsa-miR-3130-5p hsa-miR-19b-2* hsa-miR-300 hsa-miR-449a hsa-miR-29b-1* hsa-miR-548m hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidJPH3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB042636.1 AB593088.1 AK055486.1 AK097679.1 AK126663.1 AK297215.1 BC008690.1 BC036533.2 
    NR_073379.2 

    6 DOTS entries:

    DT.113712  DT.97806098  DT.70104213  DT.99929998  DT.40226252  DT.95139156 

    1 AceView cDNA sequence:

    U80757 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for JPH3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                              
    SP2:                    -     -                                                   
    SP3:                    -                                                         
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for JPH3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JPH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCAGTTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See JPH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JPH3

    SOURCE GeneReport for Unigene cluster: Hs.592068

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Tissue specificity: Specifically expressed in brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including JPH3: 
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for JPH3 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves JPH31 junctophilin 3 83.33(n)
    88.5(a)
      415830  XM_414192.3  XP_414192.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5698611 novel protein similar to mouse and human junctophilin more 68.74(n)
    71.68(a)
      569861  NM_001122702.1  NP_001116174.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta jp3   -- 48(a)   30B10   --
    worm
    (Caenorhabditis elegans)
    Secernentea jph-16
    JunctoPHilin family member (jph-1)
    32(a)
    1 → many
    I(7946830-7951588)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ARC36
    GTP binding protein
    4(a)
    possible ortholog
    1(28164840-28170054)
    rice
    (Oryza sativa)
    Liliopsida --
    MORN repeat domain containing protein, expressed
    4(a)
    possible ortholog
    9(22047983-22056548)


    ENSEMBL Gene Tree for JPH3 (if available)
    TreeFam Gene Tree for JPH3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JPH3 gene
    JPH22  RSPH10B2  JPH42  MORN42  JPH12  ALS2CL2  RSPH10B22  MORN12  
    ALS22  RSPH12  MORN32  
    6 SIMAP similar genes for JPH3 using alignment to 2 protein entries:     JPH3_HUMAN (see all proteins):
    JPH1    DKFZp779I2251    JPH4    JPH2    LOC118812    MORN4

    JPH3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Polymorphism: Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population
    and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2


    10/2941 NCBI SNPs in JPH3 are shown (see all 2941    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740394711,2
    C,--73469565(+) TCCTGC/TGCTTT 1 -- ds50013Minor allele frequency- T:0.10WA CSA 121
    rs728101881,2
    C,--73469569(+) GCGCTT/CTCTCT 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs740394721,2
    C,--73469729(+) GCCCTG/CTTAGA 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs125963821,2
    H--73469773(+) GTGTTC/GTCATC 1 -- ds50010--------
    rs740394741,2
    C,F,--73470158(+) CTTACC/AACAGT 1 -- nc-transcript-variant3Minor allele frequency- A:0.10WA CSA 122
    rs728101891,2
    C,--73470327(+) NNNNGT/CGCAGC 1 -- nc-transcript-variant3Minor allele frequency- C:0.08CSA WA NA 240
    rs1173763721,2
    C,F,--73470469(+) AAGGGC/TGNNNN 1 -- nc-transcript-variant1Minor allele frequency- T:0.02NA 120
    rs605440281,2
    C,--73470777(+) GGACTT/CTGGGA 1 -- nc-transcript-variant3Minor allele frequency- C:0.10WA CSA 121
    rs559148231,2
    C,F,--73470994(+) AGGGTG/CTCGGG 1 -- us2k13Minor allele frequency- C:0.10WA CSA 122
    rs80537821,2
    C,A,H,--73471046(+) CAGACG/TTACAG 1 -- us2k15Minor allele frequency- T:0.06NS EA WA 418

    HapMap Linkage Disequilibrium report for JPH3 (87635441 - 87731762 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for JPH3
         1 CNV: 72667
         2 Indels: 72668 45483
    Human Gene Mutation Database (HGMD): JPH3

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    JPH3 for disorders           About GeneDecksing

    OMIM gene information: 605268   
    OMIM disorders: 606438  
    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
  • Defects in JPH3 are the cause of Huntington disease-like type 2 (HDL2) [MIM:606438]. Huntington disease (HD)
  • is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum,
    especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The
    typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during
    the fourth decade of life

    13 diseases for JPH3:    About MalaCards
    huntington's disease    huntington disease-like 2    huntington disease-like    hallervorden-spatz syndrome
    acanthocytosis    neurodegenerative disease    chorea    kidney disease
    dementia    pneumonia    hypertension    malaria
    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for JPH3:
    chorea-acanthocytosis     Huntington's disease     dentatorubral-pallidoluysian atrophy     Hallervorden-Spatz syndrome

    5 Novoseek disease relationships for JPH3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease-like 2 99 4 11694876 (1), 17708569 (1), 18651325 (1)
    sca17 94.7 3 17805246 (1), 18651325 (1)
    drpla 85.3 6 18651325 (2), 18181206 (1)
    huntington disease 84.2 5 18651325 (2), 11914418 (1), 12805114 (1)
    neurodegenerative diseases 56.1 3 17708569 (1), 18651325 (1)

    GeneTests: JPH3
    Huntington Disease-Like 2

    Genetic Association Database (GAD): JPH3
    Human Genome Epidemiology (HuGE) Navigator: JPH3 (8 documents)

    Export disorders for JPH3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for JPH3 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with JPH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 9 Nishi M....Takeshima H. (2000)
    2. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (PubMed id 12805114)1, 4, 9 Stevanin G....Durr A. (2003)
    3. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. (PubMed id 11694876)1, 2, 9 Holmes S.E.... Margolis R.L. (2001)
    4. CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. (PubMed id 11914418)1, 2, 9 Stevanin G.... Brice A. (2002)
    5. JP-3 gene polymorphism in a healthy population of Serbia and Montenegro. (PubMed id 15876586)1, 4 Keckarevic M....Romac S. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)1, 3 Takeshima H....Kangawa K. (2000)
    8. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. (PubMed id 18651325)1, 9 Sul/ek-Piatkowska A....Zaremba J. (2008)
    9. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PubMed id 16858508)1, 9 Costa M.d.o. .C....Maciel P. (2006)
    10. Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE. (PubMed id 11145944)1, 9 Olin K.L....Chait A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57338 HGNC: 14203 AceView: JPH3.1 Ensembl:ENSG00000154118 euGenes: HUgn57338
    ECgene: JPH3 H-InvDB: JPH3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JPH3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JPH3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for JPH3 gene:
    Search GeneIP for patents involving JPH3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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