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JPH2 (junctophilin 2)

Identity

Alias_symbol (synonym)JP-2
Other aliasCMH17
JP2
HGNC (Hugo) JPH2
LocusID (NCBI) 57158
Atlas_Id 64725
Location 20q13.12  [Link to chromosome band 20q13]
Location_base_pair Starts at 44111697 and ends at 44187578 bp from pter ( according to hg38-Dec_2013)

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)JPH2   14202
LRG (Locus Reference Genomic)LRG_394
Cards
Entrez_Gene (NCBI)JPH2  57158  junctophilin 2
AliasesCMH17; JP-2; JP2
GeneCards (Weizmann)JPH2
Ensembl hg19 (Hinxton)ENSG00000149596 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149596 [Gene_View]  chr20:44111697-44187578 [Contig_View]  JPH2 [Vega]
ICGC DataPortalENSG00000149596
TCGA cBioPortalJPH2
AceView (NCBI)JPH2
Genatlas (Paris)JPH2
WikiGenes57158
SOURCE (Princeton)JPH2
Genetics Home Reference (NIH)JPH2
Genomic and cartography
GoldenPath hg38 (UCSC)JPH2  -     chr20:44111697-44187578 -  20q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JPH2  -     20q13.12   [Description]    (hg19-Feb_2009)
EnsemblJPH2 - 20q13.12 [CytoView hg19]  JPH2 - 20q13.12 [CytoView hg38]
Mapping of homologs : NCBIJPH2 [Mapview hg19]  JPH2 [Mapview hg38]
OMIM605267   613873   
Gene and transcription
Genbank (Entrez)AK098288 AK098303 AK304863 AL132999 AW014086
RefSeq transcript (Entrez)NM_020433 NM_175913
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JPH2
Cluster EST : UnigeneHs.441737 [ NCBI ]
CGAP (NCI)Hs.441737
Alternative Splicing GalleryENSG00000149596
Gene ExpressionJPH2 [ NCBI-GEO ]   JPH2 [ EBI - ARRAY_EXPRESS ]   JPH2 [ SEEK ]   JPH2 [ MEM ]
Gene Expression Viewer (FireBrowse)JPH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57158
GTEX Portal (Tissue expression)JPH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BR39   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BR39  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BR39
Splice isoforms : SwissVarQ9BR39
PhosPhoSitePlusQ9BR39
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)JPH2
DMDM Disease mutations57158
Blocks (Seattle)JPH2
SuperfamilyQ9BR39
Human Protein AtlasENSG00000149596
Peptide AtlasQ9BR39
HPRD12006
IPIIPI00176532   IPI00218603   
Protein Interaction databases
DIP (DOE-UCLA)Q9BR39
IntAct (EBI)Q9BR39
FunCoupENSG00000149596
BioGRIDJPH2
STRING (EMBL)JPH2
ZODIACJPH2
Ontologies - Pathways
QuickGOQ9BR39
Ontology : AmiGOphosphatidylserine binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  plasma membrane  phosphatidylinositol-5-phosphate binding  junctional sarcoplasmic reticulum membrane  calcium-release channel activity  integral component of membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  phosphatidylinositol-3-phosphate binding  release of sequestered calcium ion into cytosol  regulation of cardiac muscle tissue development  calcium ion homeostasis  regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  phosphatidylinositol-4-phosphate binding  phosphatidic acid binding  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIphosphatidylserine binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  plasma membrane  phosphatidylinositol-5-phosphate binding  junctional sarcoplasmic reticulum membrane  calcium-release channel activity  integral component of membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  phosphatidylinositol-3-phosphate binding  release of sequestered calcium ion into cytosol  regulation of cardiac muscle tissue development  calcium ion homeostasis  regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  phosphatidylinositol-4-phosphate binding  phosphatidic acid binding  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkJPH2
Atlas of Cancer Signalling NetworkJPH2
Wikipedia pathwaysJPH2
Orthology - Evolution
OrthoDB57158
GeneTree (enSembl)ENSG00000149596
Phylogenetic Trees/Animal Genes : TreeFamJPH2
HOVERGENQ9BR39
HOGENOMQ9BR39
Homologs : HomoloGeneJPH2
Homology/Alignments : Family Browser (UCSC)JPH2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJPH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JPH2
dbVarJPH2
ClinVarJPH2
1000_GenomesJPH2 
Exome Variant ServerJPH2
ExAC (Exome Aggregation Consortium)JPH2 (select the gene name)
Genetic variants : HAPMAP57158
Genomic Variants (DGV)JPH2 [DGVbeta]
DECIPHERJPH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJPH2 
Mutations
ICGC Data PortalJPH2 
TCGA Data PortalJPH2 
Broad Tumor PortalJPH2
OASIS PortalJPH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJPH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJPH2
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 JPH2
DgiDB (Drug Gene Interaction Database)JPH2
DoCM (Curated mutations)JPH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JPH2 (select a term)
intoGenJPH2
Cancer3DJPH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605267    613873   
Orphanet
MedgenJPH2
Genetic Testing Registry JPH2
NextProtQ9BR39 [Medical]
TSGene57158
GENETestsJPH2
Huge Navigator JPH2 [HugePedia]
snp3D : Map Gene to Disease57158
BioCentury BCIQJPH2
ClinGenJPH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57158
Chemical/Pharm GKB GenePA29999
Clinical trialJPH2
Miscellaneous
canSAR (ICR)JPH2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJPH2
EVEXJPH2
GoPubMedJPH2
iHOPJPH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:17:20 CEST 2017

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