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TPCN2 (two pore segment channel 2)

Identity

Alias_symbol (synonym)TPC2
Other aliasSHEP10
HGNC (Hugo) TPCN2
LocusID (NCBI) 219931
Atlas_Id 56050
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 68816350 and ends at 68858072 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KLHL7 (7p15.3) / TPCN2 (11q13.3)TPCN2 (11q13.3) / MIEF1 (22q13.1)TPCN2 (11q13.3) / RARA (17q21.2)
TPCN2 (11q13.3) / RSF1 (11q14.1)TPCN2 (11q13.3) / TPCN2 (11q13.3)

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)TPCN2   20820
Cards
Entrez_Gene (NCBI)TPCN2  219931  two pore segment channel 2
AliasesSHEP10; TPC2
GeneCards (Weizmann)TPCN2
Ensembl hg19 (Hinxton)ENSG00000162341 [Gene_View]  chr11:68816350-68858072 [Contig_View]  TPCN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162341 [Gene_View]  chr11:68816350-68858072 [Contig_View]  TPCN2 [Vega]
ICGC DataPortalENSG00000162341
TCGA cBioPortalTPCN2
AceView (NCBI)TPCN2
Genatlas (Paris)TPCN2
WikiGenes219931
SOURCE (Princeton)TPCN2
Genetics Home Reference (NIH)TPCN2
Genomic and cartography
GoldenPath hg19 (UCSC)TPCN2  -     chr11:68816350-68858072 +  11q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TPCN2  -     11q13.3   [Description]    (hg38-Dec_2013)
EnsemblTPCN2 - 11q13.3 [CytoView hg19]  TPCN2 - 11q13.3 [CytoView hg38]
Mapping of homologs : NCBITPCN2 [Mapview hg19]  TPCN2 [Mapview hg38]
OMIM612163   612267   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_139075
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPCN2
Cluster EST : UnigeneHs.131851 [ NCBI ]
CGAP (NCI)Hs.131851
Alternative Splicing GalleryENSG00000162341
Gene ExpressionTPCN2 [ NCBI-GEO ]   TPCN2 [ EBI - ARRAY_EXPRESS ]   TPCN2 [ SEEK ]   TPCN2 [ MEM ]
Gene Expression Viewer (FireBrowse)TPCN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)219931
GTEX Portal (Tissue expression)TPCN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHX9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHX9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHX9
Splice isoforms : SwissVarQ8NHX9
PhosPhoSitePlusQ8NHX9
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)TPCN2
DMDM Disease mutations219931
Blocks (Seattle)TPCN2
SuperfamilyQ8NHX9
Human Protein AtlasENSG00000162341
Peptide AtlasQ8NHX9
HPRD18218
IPIIPI00169371   IPI00479924   IPI00902959   IPI01018729   IPI01009396   IPI00909279   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHX9
IntAct (EBI)Q8NHX9
FunCoupENSG00000162341
BioGRIDTPCN2
STRING (EMBL)TPCN2
ZODIACTPCN2
Ontologies - Pathways
QuickGOQ8NHX9
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  plasma membrane  cellular calcium ion homeostasis  smooth muscle contraction  lysosome organization  endosome membrane  regulation of autophagy  integral component of membrane  calcium-mediated signaling  protein kinase binding  response to vitamin D  ion transmembrane transport  regulation of ion transmembrane transport  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  plasma membrane  cellular calcium ion homeostasis  smooth muscle contraction  lysosome organization  endosome membrane  regulation of autophagy  integral component of membrane  calcium-mediated signaling  protein kinase binding  response to vitamin D  ion transmembrane transport  regulation of ion transmembrane transport  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  NAADP-sensitive calcium-release channel activity  membrane depolarization during action potential  
Pathways : KEGGPancreatic secretion   
NDEx NetworkTPCN2
Atlas of Cancer Signalling NetworkTPCN2
Wikipedia pathwaysTPCN2
Orthology - Evolution
OrthoDB219931
GeneTree (enSembl)ENSG00000162341
Phylogenetic Trees/Animal Genes : TreeFamTPCN2
HOVERGENQ8NHX9
HOGENOMQ8NHX9
Homologs : HomoloGeneTPCN2
Homology/Alignments : Family Browser (UCSC)TPCN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPCN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPCN2
dbVarTPCN2
ClinVarTPCN2
1000_GenomesTPCN2 
Exome Variant ServerTPCN2
ExAC (Exome Aggregation Consortium)TPCN2 (select the gene name)
Genetic variants : HAPMAP219931
Genomic Variants (DGV)TPCN2 [DGVbeta]
DECIPHER (Syndromes)11:68816350-68858072  ENSG00000162341
CONAN: Copy Number AnalysisTPCN2 
Mutations
ICGC Data PortalTPCN2 
TCGA Data PortalTPCN2 
Broad Tumor PortalTPCN2
OASIS PortalTPCN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPCN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPCN2
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 TPCN2
DgiDB (Drug Gene Interaction Database)TPCN2
DoCM (Curated mutations)TPCN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPCN2 (select a term)
intoGenTPCN2
Cancer3DTPCN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612163    612267   
Orphanet
MedgenTPCN2
Genetic Testing Registry TPCN2
NextProtQ8NHX9 [Medical]
TSGene219931
GENETestsTPCN2
Huge Navigator TPCN2 [HugePedia]
snp3D : Map Gene to Disease219931
BioCentury BCIQTPCN2
ClinGenTPCN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD219931
Chemical/Pharm GKB GenePA134937857
Clinical trialTPCN2
Miscellaneous
canSAR (ICR)TPCN2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPCN2
EVEXTPCN2
GoPubMedTPCN2
iHOPTPCN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:31:58 CET 2017

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