Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



JPH3 Gene

protein-coding   GIFtS: 58
GCID: GC16P087636

Junctophilin 3

(Previous name: trinucleotide repeat containing 22)
(Previous symbol: TNRC22)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Junctophilin 31 2     JP-32 3
TNRC221 2 3     HDL22 5
JP32 3 5     CAGL2372
Trinucleotide Repeat Containing 221 2     junctophilin-32
Junctophilin Type 32 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for JPH3 Gene:
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)

GeneCards Summary for JPH3 Gene:
JPH3 (junctophilin 3) is a protein-coding gene. Diseases associated with JPH3 include huntington disease-like 2, and huntington disease-like syndrome. GO annotations related to this gene include calcium-release channel activity. An important paralog of this gene is JPH2.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for JPH3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2 (See protein sequence)
Recommended Name: Junctophilin-3  
Size: 748 amino acids; 81469 Da
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

Explore proteomics data for JPH3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JPH3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000284262  

    JPH3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for JPH3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for JPH3
    GenScript Custom Purified and Recombinant Proteins Services for JPH3
    Novus Biologicals JPH3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JPH3

    JPH3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of JPH3
    Browse R&D Systems for Antibodies
    OriGene Antibodies for JPH3
    OriGene Custom Antibody Services for JPH3
    Novus Biologicals JPH3 Antibody
    Abcam antibodies for JPH3
    Cloud-Clone Corp. Antibodies for JPH3
    ThermoFisher Antibodies for JPH3
    LSBio Antibodies in human, mouse, rat for JPH3

    JPH3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for JPH3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for JPH3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for JPH3
    Cloud-Clone Corp. CLIAs for JPH3


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR017191 Junctophilin
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q8WXH2

    ProtoNet protein and cluster: Q8WXH2

    1 Blocks protein domain: 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


    JPH3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0015278calcium-release channel activity IEA--
         
    JPH3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jph3):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  reproductive system 

    JPH3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Jph3tm1Hta for JPH3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JPH3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for JPH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for JPH3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JPH3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat JPH3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JPH3 (see all 46):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for JPH3
    Predesigned siRNA for gene silencing in human, mouse, rat JPH3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for JPH3

    Clone
    Products:
         
    OriGene clones in human, mouse for JPH3 (see all 6)
    OriGene ORF clones in mouse, rat for JPH3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: JPH3 (NM_020655)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for JPH3
    Browse ESI BIO Cell Lines and PureStem Progenitors for JPH3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    JPH3_HUMAN, Q8WXH2: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane ----
    GO:0005886plasma membrane IEA--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS19095005
    GO:0016021integral component of membrane NAS10891348

    JPH3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Pathway & Disease-focused RT2 Profiler PCR Arrays including JPH3: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for JPH3

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

    Selected 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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007612learning IEA--
    GO:0007613memory IEA--
    GO:0035640exploration behavior IEA--
    GO:0040011locomotion IEA--
    GO:0048168regulation of neuronal synaptic plasticity IEA--

    JPH3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for JPH3

    1 Novoseek inferred 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)



    JPH3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat JPH3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JPH3 (see all 46):
    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
    Products:
         
    OriGene RNAi products in human, mouse, rat for JPH3
    Predesigned siRNA for gene silencing in human, mouse, rat JPH3
    Clone
    Products:
         
    OriGene clones in human, mouse for JPH3 (see all 6)
    OriGene ORF clones in mouse, rat for JPH3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: JPH3 (NM_020655)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for JPH3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat JPH3
      QuantiTect SYBR Green Assays in human, mouse, rat JPH3
      QuantiFast Probe-based Assays in human, mouse, rat JPH3

    Additional mRNA 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

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    JPH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCAGTTAA
    JPH3 Expression
    About this image


    JPH3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    JPH3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JPH3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592068

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JPH3: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for JPH3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat JPH3
    QuantiTect SYBR Green Assays in human, mouse, rat JPH3
    QuantiFast Probe-based Assays in human, mouse, rat JPH3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for JPH3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jph31 , 5 junctophilin 31, 5 88.8(n)1
    92.55(a)1
      8 (70.73 cM)5
    573401  NM_020605.31  NP_065630.11 
     1217296235 
    chicken
    (Gallus gallus)
    Aves JPH31 junctophilin 3 83.38(n)
    88.5(a)
      415830  XM_414192.4  XP_414192.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia jph31 junctophilin 3 78.21(n)
    90.7(a)
      100498632  XM_002936094.2  XP_002936140.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5698611 novel protein similar to mouse and human junctophilin more 69.06(n)
    72.18(a)
      569861  NM_001122702.1  NP_001116174.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta jp3   -- 48(a)   30B10   --
    worm
    (Caenorhabditis elegans)
    Secernentea jph-16
    Protein JPH-1 (jph-1) mRNA, complete cds
    34(a)
    1 → many
    I(7946222-7951593) WBGene00002179


    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

    TryGeneCards Plus
    Paralogs for JPH3 gene
    JPH22  JPH42  JPH12  
    5 SIMAP similar genes for JPH3 using alignment to 2 protein entries:     JPH3_HUMAN (see all proteins):
    JPH1    DKFZp779I2251    JPH4    JPH2    LOC118812

    JPH3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    JPH3_HUMAN, Q8WXH2: 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


    Selected SNPs for JPH3 (see all 3380)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009859311,2
    --87636057(+) GGGGG-/CGGGGG 4 -- us2k1 int10--------
    rs112917831,2
    C--87646016(+) TTTTTT/-ACAGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs666475531,2
    C,F--87646703(+) TCTCTC/TTTTTT 2 -- int13Minor allele frequency- T:0.50NA CSA 6
    rs758063111,2
    C--87646718(+) TTTTTC/G/TTTGAG 2 -- int11NA 2
    rs284792741,2
    F--87647873(+) ATAAAG/CACAGG 2 -- int12Minor allele frequency- C:0.50NA 6
    rs287027571,2
    F--87647874(+) TAAACA/GCAGGT 2 -- int13Minor allele frequency- G:0.38NA 8
    rs1117694881,2
    C--87649798(+) GTTTTG/TTGTGT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs717085331,2
    C--87652694(+) GTCTC-/AAAAAA 2 -- int11Minor allele frequency- A:0.00CSA 2
    rs593681161,2
    C--87652706(+) AAAAA-/A/AA  
            
    GGGGG
    2 -- int11NA 2
    rs596340631,2
    C--87652921(+) AAAAAA/-GAAGG 2 -- int12Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for JPH3 (87635441 - 87731762 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for JPH3 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714930CNV Deletion23290073
    esv2714931CNV Deletion23290073
    esv2714928CNV Deletion23290073
    esv2714925CNV Deletion23290073
    esv990733CNV Deletion20482838
    esv2714926CNV Deletion23290073
    esv2658391CNV Deletion23128226
    esv2677149CNV Deletion23128226
    esv2669244CNV Deletion23128226
    esv2714927CNV Deletion23290073

    Human Gene Mutation Database (HGMD): JPH3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JPH3
    DNA2.0 Custom Variant and Variant Library Synthesis for JPH3

    (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

    TryGeneCards Plus
    OMIM gene information: 605268   
    OMIM disorders: 606438  
    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
  • Huntington disease-like 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for JPH3:    
    About MalaCards
    huntington disease-like 2    huntington disease-like syndrome    huntington's disease    chorea-acanthocytosis
    acanthocytosis    chorea    dentatorubral-pallidoluysian atrophy    dementia
    kidney disease    hypertension    tonsillitis    multiple myeloma
    myeloma    thyroiditis    cerebritis    neuronitis
    prostatitis    endotheliitis

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

    JPH3 for disorders           About GeneDecksing

    5 Novoseek inferred 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
    GeneReviews: JPH3
    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

    TryGeneCards Plus

    PubMed articles for JPH3 gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 2000)
    2. 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, 4, 9 SuA8ek-Piatkowska A....Zaremba J. (Neurol. Neurochir. Pol. 2008)
    3. 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, 4, 9 Costa M.d.o. .C....Maciel P. (J. Hum. Genet. 2006)
    4. 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. (Brain 2003)
    5. 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. (Nat. Genet. 2001)
    6. 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. (Neurology 2002)
    7. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    8. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 57338 HGNC: 14203 AceView: JPH3.1 Ensembl:ENSG00000154118 euGenes: HUgn57338
    ECgene: JPH3 H-InvDB: JPH3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for JPH3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=JPH3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of JPH3
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for JPH3   OriGene RNAi products in human, mouse, rat for JPH3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for JPH3  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for JPH3  
     OriGene qSTAR qPCR primer pairs in human, mouse for JPH3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for JPH3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for JPH3   OriGene Custom Protein Services for JPH3  

     
     
     Block miRNA regulation of human, mouse, rat JPH3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing JPH3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JPH3 Predesigned siRNA for gene silencing in human, mouse, rat JPH3
     QuantiFast Probe-based Assays in human, mouse, rat JPH3 QuantiTect SYBR Green Assays in human, mouse, rat JPH3
     PCR Arrays including human, mouse, rat JPH3 Search Chromatin IP Primers for JPH3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat JPH3  GeneGlobe Interaction Network for JPH3
     Regulatory tfbs in JPH3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for JPH3 GenScript cDNA clones with any tag delivered in your preferred vector for JPH3
     GenScript Custom Assay Services for JPH3 GenScript Custom overexpressing Cell Line Services for JPH3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for JPH3
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     JPH3 antibodies
     JPH3 lysates
     Antibodies for JPH3
     See all of Abcam's Antibodies, Kits and Proteins for JPH3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for JPH3
     Antibodies for JPH3
     ELISAs for JPH3
     CLIAs for JPH3



     Browse ESI BIO Cell Lines and PureStem Progenitors for JPH3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH3
     SwitchGear 3'UTR luciferase reporter plasmids for JPH3
     SwitchGear Promoter luciferase reporter plasmids for JPH3
     ThermoFisher Antibodies for JPH3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JPH3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for JPH3
     LSBio Antibodies in human, mouse, rat for JPH3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      JPH3 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4