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INPP5E (inositol polyphosphate-5-phosphatase E)

Identity

Alias_namesJBTS1
Joubert syndrome 1
inositol polyphosphate-5-phosphatase, 72 kDa
Alias_symbol (synonym)PPI5PIV
CORS1
pharbin
Other aliasCPD4
MORMS
HGNC (Hugo) INPP5E
LocusID (NCBI) 56623
Atlas_Id 43323
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 136428615 and ends at 136439822 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
INPP5E (9q34.3) / INPP5E (9q34.3)INPP5E (9q34.3) / SEC16A (9q34.3)INPP5E 9q34.3 / SEC16A 9q34.3

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)INPP5E   21474
Cards
Entrez_Gene (NCBI)INPP5E  56623  inositol polyphosphate-5-phosphatase E
AliasesCORS1; CPD4; JBTS1; MORMS; 
PPI5PIV; pharbin
GeneCards (Weizmann)INPP5E
Ensembl hg19 (Hinxton)ENSG00000148384 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148384 [Gene_View]  chr9:136428615-136439822 [Contig_View]  INPP5E [Vega]
ICGC DataPortalENSG00000148384
TCGA cBioPortalINPP5E
AceView (NCBI)INPP5E
Genatlas (Paris)INPP5E
WikiGenes56623
SOURCE (Princeton)INPP5E
Genetics Home Reference (NIH)INPP5E
Genomic and cartography
GoldenPath hg38 (UCSC)INPP5E  -     chr9:136428615-136439822 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)INPP5E  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblINPP5E - 9q34.3 [CytoView hg19]  INPP5E - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIINPP5E [Mapview hg19]  INPP5E [Mapview hg38]
OMIM213300   610156   613037   
Gene and transcription
Genbank (Entrez)AF187891 AL832846 BC028032 BC110356 BE044535
RefSeq transcript (Entrez)NM_001318502 NM_019892
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)INPP5E
Cluster EST : UnigeneHs.120998 [ NCBI ]
CGAP (NCI)Hs.120998
Alternative Splicing GalleryENSG00000148384
Gene ExpressionINPP5E [ NCBI-GEO ]   INPP5E [ EBI - ARRAY_EXPRESS ]   INPP5E [ SEEK ]   INPP5E [ MEM ]
Gene Expression Viewer (FireBrowse)INPP5E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56623
GTEX Portal (Tissue expression)INPP5E
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRR6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRR6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRR6
Splice isoforms : SwissVarQ9NRR6
PhosPhoSitePlusQ9NRR6
Domains : Interpro (EBI)Endo/exonuclease/phosphatase    IPPc   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
Domain families : Smart (EMBL)IPPc (SM00128)  
Conserved Domain (NCBI)INPP5E
DMDM Disease mutations56623
Blocks (Seattle)INPP5E
PDB (SRS)2XSW   
PDB (PDBSum)2XSW   
PDB (IMB)2XSW   
PDB (RSDB)2XSW   
Structural Biology KnowledgeBase2XSW   
SCOP (Structural Classification of Proteins)2XSW   
CATH (Classification of proteins structures)2XSW   
SuperfamilyQ9NRR6
Human Protein AtlasENSG00000148384
Peptide AtlasQ9NRR6
HPRD17151
IPIIPI00181799   IPI00409719   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRR6
IntAct (EBI)Q9NRR6
FunCoupENSG00000148384
BioGRIDINPP5E
STRING (EMBL)INPP5E
ZODIACINPP5E
Ontologies - Pathways
QuickGOQ9NRR6
Ontology : AmiGOruffle  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  cytosol  plasma membrane  cilium  axoneme  phosphatidylinositol biosynthetic process  biological_process  Golgi cisterna membrane  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  
Ontology : EGO-EBIruffle  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  cytosol  plasma membrane  cilium  axoneme  phosphatidylinositol biosynthetic process  biological_process  Golgi cisterna membrane  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
NDEx NetworkINPP5E
Atlas of Cancer Signalling NetworkINPP5E
Wikipedia pathwaysINPP5E
Orthology - Evolution
OrthoDB56623
GeneTree (enSembl)ENSG00000148384
Phylogenetic Trees/Animal Genes : TreeFamINPP5E
HOVERGENQ9NRR6
HOGENOMQ9NRR6
Homologs : HomoloGeneINPP5E
Homology/Alignments : Family Browser (UCSC)INPP5E
Gene fusions - Rearrangements
Fusion : MitelmanINPP5E/SEC16A [9q34.3/9q34.3]  
Fusion: TCGAINPP5E 9q34.3 SEC16A 9q34.3 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerINPP5E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)INPP5E
dbVarINPP5E
ClinVarINPP5E
1000_GenomesINPP5E 
Exome Variant ServerINPP5E
ExAC (Exome Aggregation Consortium)INPP5E (select the gene name)
Genetic variants : HAPMAP56623
Genomic Variants (DGV)INPP5E [DGVbeta]
DECIPHERINPP5E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisINPP5E 
Mutations
ICGC Data PortalINPP5E 
TCGA Data PortalINPP5E 
Broad Tumor PortalINPP5E
OASIS PortalINPP5E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICINPP5E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDINPP5E
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch INPP5E
DgiDB (Drug Gene Interaction Database)INPP5E
DoCM (Curated mutations)INPP5E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)INPP5E (select a term)
intoGenINPP5E
Cancer3DINPP5E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM213300    610156    613037   
Orphanet1022    1644    18916    11096   
MedgenINPP5E
Genetic Testing Registry INPP5E
NextProtQ9NRR6 [Medical]
TSGene56623
GENETestsINPP5E
Target ValidationINPP5E
Huge Navigator INPP5E [HugePedia]
snp3D : Map Gene to Disease56623
BioCentury BCIQINPP5E
ClinGenINPP5E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56623
Chemical/Pharm GKB GenePA164741785
Clinical trialINPP5E
Miscellaneous
canSAR (ICR)INPP5E (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineINPP5E
EVEXINPP5E
GoPubMedINPP5E
iHOPINPP5E
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 12:38:36 CEST 2017

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