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ITPKC (inositol-trisphosphate 3-kinase C)

Identity

Other namesIP3-3KC
IP3KC
HGNC (Hugo) ITPKC
LocusID (NCBI) 80271
Atlas_Id 53178
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 41223008 and ends at 41246765 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AC008537.4 () / ITPKC (19q13.2)DDOST (1p36.12) / ITPKC (19q13.2)ITPKC (19q13.2) / PPFIA3 (19q13.33)
AC008537.4 ITPKC 19q13.2

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)ITPKC   14897
Cards
Entrez_Gene (NCBI)ITPKC  80271  inositol-trisphosphate 3-kinase C
AliasesIP3-3KC; IP3KC
GeneCards (Weizmann)ITPKC
Ensembl hg19 (Hinxton)ENSG00000086544 [Gene_View]  chr19:41223008-41246765 [Contig_View]  ITPKC [Vega]
Ensembl hg38 (Hinxton)ENSG00000086544 [Gene_View]  chr19:41223008-41246765 [Contig_View]  ITPKC [Vega]
ICGC DataPortalENSG00000086544
TCGA cBioPortalITPKC
AceView (NCBI)ITPKC
Genatlas (Paris)ITPKC
WikiGenes80271
SOURCE (Princeton)ITPKC
Genomic and cartography
GoldenPath hg19 (UCSC)ITPKC  -     chr19:41223008-41246765 +  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITPKC  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblITPKC - 19q13.2 [CytoView hg19]  ITPKC - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIITPKC [Mapview hg19]  ITPKC [Mapview hg38]
OMIM606476   611775   
Gene and transcription
Genbank (Entrez)AJ290975 AK024596 BC026903 BC060788 D38169
RefSeq transcript (Entrez)NM_025194
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_012970 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)ITPKC
Cluster EST : UnigeneHs.515415 [ NCBI ]
CGAP (NCI)Hs.515415
Alternative Splicing GalleryENSG00000086544
Gene ExpressionITPKC [ NCBI-GEO ]   ITPKC [ EBI - ARRAY_EXPRESS ]   ITPKC [ SEEK ]   ITPKC [ MEM ]
Gene Expression Viewer (FireBrowse)ITPKC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80271
GTEX Portal (Tissue expression)ITPKC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DU7 (Uniprot)
NextProtQ96DU7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DU7
Splice isoforms : SwissVarQ96DU7 (Swissvar)
Catalytic activity : Enzyme2.7.1.127 [ Enzyme-Expasy ]   2.7.1.1272.7.1.127 [ IntEnz-EBI ]   2.7.1.127 [ BRENDA ]   2.7.1.127 [ KEGG ]   
PhosPhoSitePlusQ96DU7
Domains : Interpro (EBI)IPK   
Domain families : Pfam (Sanger)IPK (PF03770)   
Domain families : Pfam (NCBI)pfam03770   
DMDM Disease mutations80271
Blocks (Seattle)ITPKC
PDB (SRS)2A98   
PDB (PDBSum)2A98   
PDB (IMB)2A98   
PDB (RSDB)2A98   
Structural Biology KnowledgeBase2A98   
SCOP (Structural Classification of Proteins)2A98   
CATH (Classification of proteins structures)2A98   
SuperfamilyQ96DU7
Human Protein AtlasENSG00000086544
Peptide AtlasQ96DU7
HPRD09400
IPIIPI00061203   
Protein Interaction databases
DIP (DOE-UCLA)Q96DU7
IntAct (EBI)Q96DU7
FunCoupENSG00000086544
BioGRIDITPKC
STRING (EMBL)ITPKC
ZODIACITPKC
Ontologies - Pathways
QuickGOQ96DU7
Ontology : AmiGOpositive regulation of defense response to virus by host  calmodulin binding  ATP binding  nucleoplasm  cytosol  inositol-1,4,5-trisphosphate 3-kinase activity  phosphorylation  inositol phosphate metabolic process  mitophagy in response to mitochondrial depolarization  xenophagy  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  calmodulin binding  ATP binding  nucleoplasm  cytosol  inositol-1,4,5-trisphosphate 3-kinase activity  phosphorylation  inositol phosphate metabolic process  mitophagy in response to mitochondrial depolarization  xenophagy  
Pathways : KEGGInositol phosphate metabolism    Calcium signaling pathway    Phosphatidylinositol signaling system   
NDEx NetworkITPKC
Atlas of Cancer Signalling NetworkITPKC
Wikipedia pathwaysITPKC
Orthology - Evolution
OrthoDB80271
GeneTree (enSembl)ENSG00000086544
Phylogenetic Trees/Animal Genes : TreeFamITPKC
Homologs : HomoloGeneITPKC
Homology/Alignments : Family Browser (UCSC)ITPKC
Gene fusions - Rearrangements
Fusion: TCGAAC008537.4 ITPKC 19q13.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerITPKC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPKC
dbVarITPKC
ClinVarITPKC
1000_GenomesITPKC 
Exome Variant ServerITPKC
ExAC (Exome Aggregation Consortium)ITPKC (select the gene name)
Genetic variants : HAPMAP80271
Genomic Variants (DGV)ITPKC [DGVbeta]
Mutations
ICGC Data PortalITPKC 
TCGA Data PortalITPKC 
Broad Tumor PortalITPKC
OASIS PortalITPKC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPKC 
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 ITPKC
DgiDB (Drug Gene Interaction Database)ITPKC
DoCM (Curated mutations)ITPKC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPKC (select a term)
intoGenITPKC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:41223008-41246765  ENSG00000086544
CONAN: Copy Number AnalysisITPKC 
Mutations and Diseases : HGMDITPKC
OMIM606476    611775   
MedgenITPKC
Genetic Testing Registry ITPKC
NextProtQ96DU7 [Medical]
TSGene80271
GENETestsITPKC
Huge Navigator ITPKC [HugePedia]
snp3D : Map Gene to Disease80271
BioCentury BCIQITPKC
ClinGenITPKC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80271
Chemical/Pharm GKB GenePA29977
Clinical trialITPKC
Miscellaneous
canSAR (ICR)ITPKC (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPKC
EVEXITPKC
GoPubMedITPKC
iHOPITPKC
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 19 18:55:40 CEST 2016

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