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JPH3 (junctophilin 3)

Identity

Alias_namesTNRC22
trinucleotide repeat containing 22
Alias_symbol (synonym)JP-3
CAGL237
HDL2
JP3
Other alias
HGNC (Hugo) JPH3
LocusID (NCBI) 57338
Atlas_Id 54390
Location 16q24.2  [Link to chromosome band 16q24]
Location_base_pair Starts at 87602887 and ends at 87604648 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPHX1 (1q42.12) / JPH3 (16q24.2)JPH3 (16q24.2) / ACTB (7p22.1)JPH3 (16q24.2) / OSGIN1 (16q23.3)
ZNF276 (16q24.3) / JPH3 (16q24.2)ZNF276 16q24.3 / JPH3 16q24.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)JPH3   14203
Cards
Entrez_Gene (NCBI)JPH3  57338  junctophilin 3
AliasesCAGL237; HDL2; JP-3; JP3; 
TNRC22
GeneCards (Weizmann)JPH3
Ensembl hg19 (Hinxton)ENSG00000154118 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154118 [Gene_View]  chr16:87602887-87604648 [Contig_View]  JPH3 [Vega]
ICGC DataPortalENSG00000154118
TCGA cBioPortalJPH3
AceView (NCBI)JPH3
Genatlas (Paris)JPH3
WikiGenes57338
SOURCE (Princeton)JPH3
Genetics Home Reference (NIH)JPH3
Genomic and cartography
GoldenPath hg38 (UCSC)JPH3  -     chr16:87602887-87604648 +  16q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JPH3  -     16q24.2   [Description]    (hg19-Feb_2009)
EnsemblJPH3 - 16q24.2 [CytoView hg19]  JPH3 - 16q24.2 [CytoView hg38]
Mapping of homologs : NCBIJPH3 [Mapview hg19]  JPH3 [Mapview hg38]
OMIM605268   606438   
Gene and transcription
Genbank (Entrez)AA813196 AB042636 AB593088 AI299726 AK055486
RefSeq transcript (Entrez)NM_001271604 NM_001271605 NM_020655
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JPH3
Cluster EST : UnigeneHs.733790 [ NCBI ]
CGAP (NCI)Hs.733790
Alternative Splicing GalleryENSG00000154118
Gene ExpressionJPH3 [ NCBI-GEO ]   JPH3 [ EBI - ARRAY_EXPRESS ]   JPH3 [ SEEK ]   JPH3 [ MEM ]
Gene Expression Viewer (FireBrowse)JPH3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57338
GTEX Portal (Tissue expression)JPH3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXH2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXH2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXH2
Splice isoforms : SwissVarQ8WXH2
PhosPhoSitePlusQ8WXH2
Domains : Interpro (EBI)Junctophilin    MORN   
Domain families : Pfam (Sanger)MORN (PF02493)   
Domain families : Pfam (NCBI)pfam02493   
Domain families : Smart (EMBL)MORN (SM00698)  
Conserved Domain (NCBI)JPH3
DMDM Disease mutations57338
Blocks (Seattle)JPH3
SuperfamilyQ8WXH2
Human Protein AtlasENSG00000154118
Peptide AtlasQ8WXH2
HPRD05589
IPIIPI00166646   IPI00218117   IPI00643519   IPI00953014   IPI00063023   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXH2
IntAct (EBI)Q8WXH2
FunCoupENSG00000154118
BioGRIDJPH3
STRING (EMBL)JPH3
ZODIACJPH3
Ontologies - Pathways
QuickGOQ8WXH2
Ontology : AmiGOmolecular_function  plasma membrane  learning  memory  junctional sarcoplasmic reticulum membrane  calcium-release channel activity  integral component of membrane  junctional membrane complex  exploration behavior  locomotion  regulation of neuronal synaptic plasticity  neuromuscular process controlling balance  release of sequestered calcium ion into cytosol  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  
Ontology : EGO-EBImolecular_function  plasma membrane  learning  memory  junctional sarcoplasmic reticulum membrane  calcium-release channel activity  integral component of membrane  junctional membrane complex  exploration behavior  locomotion  regulation of neuronal synaptic plasticity  neuromuscular process controlling balance  release of sequestered calcium ion into cytosol  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  
NDEx NetworkJPH3
Atlas of Cancer Signalling NetworkJPH3
Wikipedia pathwaysJPH3
Orthology - Evolution
OrthoDB57338
GeneTree (enSembl)ENSG00000154118
Phylogenetic Trees/Animal Genes : TreeFamJPH3
HOVERGENQ8WXH2
HOGENOMQ8WXH2
Homologs : HomoloGeneJPH3
Homology/Alignments : Family Browser (UCSC)JPH3
Gene fusions - Rearrangements
Fusion : MitelmanJPH3/OSGIN1 [16q24.2/16q23.3]  
Fusion : MitelmanZNF276/JPH3 [16q24.3/16q24.2]  [t(16;16)(q24;q24)]  
Fusion: TCGAZNF276 16q24.3 JPH3 16q24.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJPH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JPH3
dbVarJPH3
ClinVarJPH3
1000_GenomesJPH3 
Exome Variant ServerJPH3
ExAC (Exome Aggregation Consortium)JPH3 (select the gene name)
Genetic variants : HAPMAP57338
Genomic Variants (DGV)JPH3 [DGVbeta]
DECIPHERJPH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJPH3 
Mutations
ICGC Data PortalJPH3 
TCGA Data PortalJPH3 
Broad Tumor PortalJPH3
OASIS PortalJPH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJPH3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJPH3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JPH3
DgiDB (Drug Gene Interaction Database)JPH3
DoCM (Curated mutations)JPH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JPH3 (select a term)
intoGenJPH3
Cancer3DJPH3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605268    606438   
Orphanet13951   
MedgenJPH3
Genetic Testing Registry JPH3
NextProtQ8WXH2 [Medical]
TSGene57338
GENETestsJPH3
Target ValidationJPH3
Huge Navigator JPH3 [HugePedia]
snp3D : Map Gene to Disease57338
BioCentury BCIQJPH3
ClinGenJPH3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57338
Chemical/Pharm GKB GenePA30000
Clinical trialJPH3
Miscellaneous
canSAR (ICR)JPH3 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJPH3
EVEXJPH3
GoPubMedJPH3
iHOPJPH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:39:05 CEST 2017

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