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JPH4 (junctophilin 4)

Identity

Alias_namesJPHL1
junctophilin like 1
Alias_symbol (synonym)KIAA1831
Other aliasJP4
HGNC (Hugo) JPH4
LocusID (NCBI) 84502
Atlas_Id 64726
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23568035 and ends at 23578800 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
JPH4 (14q11.2) / JPH4 (14q11.2)

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)JPH4   20156
Cards
Entrez_Gene (NCBI)JPH4  84502  junctophilin 4
AliasesJP4; JPHL1
GeneCards (Weizmann)JPH4
Ensembl hg19 (Hinxton)ENSG00000092051 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092051 [Gene_View]  chr14:23568035-23578800 [Contig_View]  JPH4 [Vega]
ICGC DataPortalENSG00000092051
TCGA cBioPortalJPH4
AceView (NCBI)JPH4
Genatlas (Paris)JPH4
WikiGenes84502
SOURCE (Princeton)JPH4
Genetics Home Reference (NIH)JPH4
Genomic and cartography
GoldenPath hg38 (UCSC)JPH4  -     chr14:23568035-23578800 -  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JPH4  -     14q11.2   [Description]    (hg19-Feb_2009)
EnsemblJPH4 - 14q11.2 [CytoView hg19]  JPH4 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIJPH4 [Mapview hg19]  JPH4 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB058734 AK055345 AK091572 AK290511 AK304514
RefSeq transcript (Entrez)NM_001146028 NM_032452
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JPH4
Cluster EST : UnigeneHs.597841 [ NCBI ]
CGAP (NCI)Hs.597841
Alternative Splicing GalleryENSG00000092051
Gene ExpressionJPH4 [ NCBI-GEO ]   JPH4 [ EBI - ARRAY_EXPRESS ]   JPH4 [ SEEK ]   JPH4 [ MEM ]
Gene Expression Viewer (FireBrowse)JPH4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84502
GTEX Portal (Tissue expression)JPH4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JJ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JJ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JJ6
Splice isoforms : SwissVarQ96JJ6
PhosPhoSitePlusQ96JJ6
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)JPH4
DMDM Disease mutations84502
Blocks (Seattle)JPH4
SuperfamilyQ96JJ6
Human Protein AtlasENSG00000092051
Peptide AtlasQ96JJ6
HPRD17170
IPIIPI01025785   IPI00921954   IPI00377242   IPI00979098   
Protein Interaction databases
DIP (DOE-UCLA)Q96JJ6
IntAct (EBI)Q96JJ6
FunCoupENSG00000092051
BioGRIDJPH4
STRING (EMBL)JPH4
ZODIACJPH4
Ontologies - Pathways
QuickGOQ96JJ6
Ontology : AmiGOregulation of cytokine production  smooth endoplasmic reticulum  plasma membrane  learning  junctional sarcoplasmic reticulum membrane  integral component of membrane  junctional membrane complex  dendritic shaft  regulation of synaptic plasticity  neuromuscular process controlling balance  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  regulation of store-operated calcium entry  
Ontology : EGO-EBIregulation of cytokine production  smooth endoplasmic reticulum  plasma membrane  learning  junctional sarcoplasmic reticulum membrane  integral component of membrane  junctional membrane complex  dendritic shaft  regulation of synaptic plasticity  neuromuscular process controlling balance  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  regulation of store-operated calcium entry  
NDEx NetworkJPH4
Atlas of Cancer Signalling NetworkJPH4
Wikipedia pathwaysJPH4
Orthology - Evolution
OrthoDB84502
GeneTree (enSembl)ENSG00000092051
Phylogenetic Trees/Animal Genes : TreeFamJPH4
HOVERGENQ96JJ6
HOGENOMQ96JJ6
Homologs : HomoloGeneJPH4
Homology/Alignments : Family Browser (UCSC)JPH4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJPH4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JPH4
dbVarJPH4
ClinVarJPH4
1000_GenomesJPH4 
Exome Variant ServerJPH4
ExAC (Exome Aggregation Consortium)JPH4 (select the gene name)
Genetic variants : HAPMAP84502
Genomic Variants (DGV)JPH4 [DGVbeta]
DECIPHERJPH4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJPH4 
Mutations
ICGC Data PortalJPH4 
TCGA Data PortalJPH4 
Broad Tumor PortalJPH4
OASIS PortalJPH4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJPH4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJPH4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JPH4
DgiDB (Drug Gene Interaction Database)JPH4
DoCM (Curated mutations)JPH4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JPH4 (select a term)
intoGenJPH4
Cancer3DJPH4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenJPH4
Genetic Testing Registry JPH4
NextProtQ96JJ6 [Medical]
TSGene84502
GENETestsJPH4
Target ValidationJPH4
Huge Navigator JPH4 [HugePedia]
snp3D : Map Gene to Disease84502
BioCentury BCIQJPH4
ClinGenJPH4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84502
Chemical/Pharm GKB GenePA134897649
Clinical trialJPH4
Miscellaneous
canSAR (ICR)JPH4 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJPH4
EVEXJPH4
GoPubMedJPH4
iHOPJPH4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:11:28 CEST 2017

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