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JPH3 (junctophilin 3)

Identity

Alias (NCBI)CAGL237
HDL2
JP-3
JP3
TNRC22
HGNC (Hugo) JPH3
HGNC Alias symbJP-3
CAGL237
HDL2
JP3
HGNC Previous nameTNRC22
HGNC Previous nametrinucleotide repeat containing 22
LocusID (NCBI) 57338
Atlas_Id 54390
Location 16q24.2  [Link to chromosome band 16q24]
Location_base_pair Starts at 87602508 and ends at 87698155 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)JPH3   14203
Cards
Entrez_Gene (NCBI)JPH3    junctophilin 3
AliasesCAGL237; HDL2; JP-3; JP3; 
TNRC22
GeneCards (Weizmann)JPH3
Ensembl hg19 (Hinxton)ENSG00000154118 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154118 [Gene_View]  ENSG00000154118 [Sequence]  chr16:87602508-87698155 [Contig_View]  JPH3 [Vega]
ICGC DataPortalENSG00000154118
TCGA cBioPortalJPH3
AceView (NCBI)JPH3
Genatlas (Paris)JPH3
SOURCE (Princeton)JPH3
Genetics Home Reference (NIH)JPH3
Genomic and cartography
GoldenPath hg38 (UCSC)JPH3  -     chr16:87602508-87698155 +  16q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JPH3  -     16q24.2   [Description]    (hg19-Feb_2009)
GoldenPathJPH3 - 16q24.2 [CytoView hg19]  JPH3 - 16q24.2 [CytoView hg38]
ImmunoBaseENSG00000154118
Genome Data Viewer NCBIJPH3 [Mapview hg19]  
OMIM605268   606438   
Gene and transcription
Genbank (Entrez)AA813196 AB042636 AB593088 AI299726 AK055486
RefSeq transcript (Entrez)NM_001271604 NM_001271605 NM_020655
Consensus coding sequences : CCDS (NCBI)JPH3
Gene ExpressionJPH3 [ NCBI-GEO ]   JPH3 [ EBI - ARRAY_EXPRESS ]   JPH3 [ SEEK ]   JPH3 [ MEM ]
Gene Expression Viewer (FireBrowse)JPH3 [ Firebrowse - Broad ]
GenevisibleExpression of JPH3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57338
GTEX Portal (Tissue expression)JPH3
Human Protein AtlasENSG00000154118-JPH3 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ8WXH2
AlphaFold pdb e-kbQ8WXH2   
Human Protein Atlas [tissue]ENSG00000154118-JPH3 [tissue]
HPRD05589
Protein Interaction databases
DIP (DOE-UCLA)Q8WXH2
IntAct (EBI)Q8WXH2
BioGRIDJPH3
STRING (EMBL)JPH3
ZODIACJPH3
Ontologies - Pathways
QuickGOQ8WXH2
Ontology : AmiGOmolecular_function  protein binding  endoplasmic reticulum membrane  plasma membrane  learning  memory  junctional sarcoplasmic reticulum membrane  integral component of membrane  junctional membrane complex  exploration behavior  locomotion  regulation of synaptic plasticity  regulation of neuronal synaptic plasticity  neuromuscular process controlling balance  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  
Ontology : EGO-EBImolecular_function  protein binding  endoplasmic reticulum membrane  plasma membrane  learning  memory  junctional sarcoplasmic reticulum membrane  integral component of membrane  junctional membrane complex  exploration behavior  locomotion  regulation of synaptic plasticity  regulation of neuronal synaptic plasticity  neuromuscular process controlling balance  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
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]  
Fusion : QuiverJPH3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJPH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JPH3
dbVarJPH3
ClinVarJPH3
MonarchJPH3
1000_GenomesJPH3 
Exome Variant ServerJPH3
GNOMAD BrowserENSG00000154118
Varsome BrowserJPH3
ACMGJPH3 variants
VarityQ8WXH2
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]  
Somatic Mutations in Cancer : COSMIC3DJPH3
Mutations and Diseases : HGMDJPH3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaJPH3
DgiDB (Drug Gene Interaction Database)JPH3
DoCM (Curated mutations)JPH3
CIViC (Clinical Interpretations of Variants in Cancer)JPH3
Cancer3DJPH3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605268    606438   
Orphanet13951   
DisGeNETJPH3
MedgenJPH3
Genetic Testing Registry JPH3
NextProtQ8WXH2 [Medical]
GENETestsJPH3
Target ValidationJPH3
Huge Navigator JPH3 [HugePedia]
ClinGenJPH3
Clinical trials, drugs, therapy
MyCancerGenomeJPH3
Protein Interactions : CTDJPH3
Pharm GKB GenePA30000
PharosQ8WXH2
Clinical trialJPH3
Miscellaneous
canSAR (ICR)JPH3
HarmonizomeJPH3
DataMed IndexJPH3
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXJPH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:14:30 CEST 2021

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