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TPCN2 (two pore segment channel 2)

Identity

Alias (NCBI)SHEP10
TPC2
HGNC (Hugo) TPCN2
HGNC Alias symbTPC2
LocusID (NCBI) 219931
Atlas_Id 56050
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 69048932 and ends at 69090597 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    two pore segment channel 2
AliasesSHEP10; TPC2
GeneCards (Weizmann)TPCN2
Ensembl hg19 (Hinxton)ENSG00000162341 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162341 [Gene_View]  ENSG00000162341 [Sequence]  chr11:69048932-69090597 [Contig_View]  TPCN2 [Vega]
ICGC DataPortalENSG00000162341
TCGA cBioPortalTPCN2
AceView (NCBI)TPCN2
Genatlas (Paris)TPCN2
SOURCE (Princeton)TPCN2
Genetics Home Reference (NIH)TPCN2
Genomic and cartography
GoldenPath hg38 (UCSC)TPCN2  -     chr11:69048932-69090597 +  11q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPCN2  -     11q13.3   [Description]    (hg19-Feb_2009)
GoldenPathTPCN2 - 11q13.3 [CytoView hg19]  TPCN2 - 11q13.3 [CytoView hg38]
ImmunoBaseENSG00000162341
Genome Data Viewer NCBITPCN2 [Mapview hg19]  
OMIM612163   612267   
Gene and transcription
Genbank (Entrez)AB209253 AK023366 AK123089 AK298919 AL137479
RefSeq transcript (Entrez)NM_139075
Consensus coding sequences : CCDS (NCBI)TPCN2
Gene ExpressionTPCN2 [ NCBI-GEO ]   TPCN2 [ EBI - ARRAY_EXPRESS ]   TPCN2 [ SEEK ]   TPCN2 [ MEM ]
Gene Expression Viewer (FireBrowse)TPCN2 [ Firebrowse - Broad ]
GenevisibleExpression of TPCN2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)219931
GTEX Portal (Tissue expression)TPCN2
Human Protein AtlasENSG00000162341-TPCN2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8NHX9
Domains : Interpro (EBI)Ion_trans_dom    TPC2    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)TPCN2
PDB (RSDB)6NQ0    6NQ1    6NQ2   
PDB Europe6NQ0    6NQ1    6NQ2   
PDB (PDBSum)6NQ0    6NQ1    6NQ2   
PDB (IMB)6NQ0    6NQ1    6NQ2   
Structural Biology KnowledgeBase6NQ0    6NQ1    6NQ2   
SCOP (Structural Classification of Proteins)6NQ0    6NQ1    6NQ2   
CATH (Classification of proteins structures)6NQ0    6NQ1    6NQ2   
SuperfamilyQ8NHX9
AlphaFold pdb e-kbQ8NHX9   
Human Protein Atlas [tissue]ENSG00000162341-TPCN2 [tissue]
HPRD18218
Protein Interaction databases
DIP (DOE-UCLA)Q8NHX9
IntAct (EBI)Q8NHX9
BioGRIDTPCN2
STRING (EMBL)TPCN2
ZODIACTPCN2
Ontologies - Pathways
QuickGOQ8NHX9
Ontology : AmiGOvoltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  cellular calcium ion homeostasis  smooth muscle contraction  lysosome organization  endosome membrane  regulation of autophagy  integral component of membrane  receptor-mediated endocytosis of virus by host cell  calcium-mediated signaling  protein kinase binding  ion transmembrane transport  regulation of ion transmembrane transport  identical protein binding  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  
Ontology : EGO-EBIvoltage-gated calcium channel activity  protein binding  lysosome  lysosomal membrane  lysosomal membrane  cellular calcium ion homeostasis  smooth muscle contraction  lysosome organization  endosome membrane  regulation of autophagy  integral component of membrane  receptor-mediated endocytosis of virus by host cell  calcium-mediated signaling  protein kinase binding  ion transmembrane transport  regulation of ion transmembrane transport  identical protein binding  release of sequestered calcium ion into cytosol  NAADP-sensitive calcium-release channel activity  
Pathways : KEGGPancreatic secretion   
NDEx NetworkTPCN2
Atlas of Cancer Signalling NetworkTPCN2
Wikipedia pathwaysTPCN2
Orthology - Evolution
OrthoDB219931
GeneTree (enSembl)ENSG00000162341
Phylogenetic Trees/Animal Genes : TreeFamTPCN2
Homologs : HomoloGeneTPCN2
Homology/Alignments : Family Browser (UCSC)TPCN2
Gene fusions - Rearrangements
Fusion : QuiverTPCN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPCN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPCN2
dbVarTPCN2
ClinVarTPCN2
MonarchTPCN2
1000_GenomesTPCN2 
Exome Variant ServerTPCN2
GNOMAD BrowserENSG00000162341
Varsome BrowserTPCN2
ACMGTPCN2 variants
VarityQ8NHX9
Genomic Variants (DGV)TPCN2 [DGVbeta]
DECIPHERTPCN2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTPCN2
Mutations and Diseases : HGMDTPCN2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTPCN2
DgiDB (Drug Gene Interaction Database)TPCN2
DoCM (Curated mutations)TPCN2
CIViC (Clinical Interpretations of Variants in Cancer)TPCN2
Cancer3DTPCN2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612163    612267   
Orphanet
DisGeNETTPCN2
MedgenTPCN2
Genetic Testing Registry TPCN2
NextProtQ8NHX9 [Medical]
GENETestsTPCN2
Target ValidationTPCN2
Huge Navigator TPCN2 [HugePedia]
ClinGenTPCN2
Clinical trials, drugs, therapy
MyCancerGenomeTPCN2
Protein Interactions : CTDTPCN2
Pharm GKB GenePA134937857
PharosQ8NHX9
Clinical trialTPCN2
Miscellaneous
canSAR (ICR)TPCN2
HarmonizomeTPCN2
DataMed IndexTPCN2
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTPCN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:35:59 CEST 2021

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