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TMC8 (transmembrane channel like 8)

Identity

Alias_namesEVER2
epidermodysplasia verruciformis 2
Alias_symbol (synonym)EVIN2
Other aliasEV2
HGNC (Hugo) TMC8
LocusID (NCBI) 147138
Atlas_Id 40508
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 78130778 and ends at 78142968 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)
ARHGEF1 (19q13.2) / TMC8 (17q25.3)NUPL2 (7p15.3) / TMC8 (17q25.3)ST3GAL3 (1p34.1) / TMC8 (17q25.3)

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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Epidermodysplasia verruciformis


External links

Nomenclature
HGNC (Hugo)TMC8   20474
LRG (Locus Reference Genomic)LRG_119
Cards
Entrez_Gene (NCBI)TMC8  147138  transmembrane channel like 8
AliasesEV2; EVER2; EVIN2
GeneCards (Weizmann)TMC8
Ensembl hg19 (Hinxton)ENSG00000167895 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167895 [Gene_View]  chr17:78130778-78142968 [Contig_View]  TMC8 [Vega]
ICGC DataPortalENSG00000167895
TCGA cBioPortalTMC8
AceView (NCBI)TMC8
Genatlas (Paris)TMC8
WikiGenes147138
SOURCE (Princeton)TMC8
Genetics Home Reference (NIH)TMC8
Genomic and cartography
GoldenPath hg38 (UCSC)TMC8  -     chr17:78130778-78142968 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMC8  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblTMC8 - 17q25.3 [CytoView hg19]  TMC8 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBITMC8 [Mapview hg19]  TMC8 [Mapview hg38]
OMIM226400   605829   
Gene and transcription
Genbank (Entrez)AK090478 AK097987 AK125672 AK128327 AK303499
RefSeq transcript (Entrez)NM_152468
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMC8
Cluster EST : UnigeneHs.592102 [ NCBI ]
CGAP (NCI)Hs.592102
Alternative Splicing GalleryENSG00000167895
Gene ExpressionTMC8 [ NCBI-GEO ]   TMC8 [ EBI - ARRAY_EXPRESS ]   TMC8 [ SEEK ]   TMC8 [ MEM ]
Gene Expression Viewer (FireBrowse)TMC8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)147138
GTEX Portal (Tissue expression)TMC8
Human Protein AtlasENSG00000167895-TMC8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IU68   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IU68  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IU68
Splice isoforms : SwissVarQ8IU68
PhosPhoSitePlusQ8IU68
Domains : Interpro (EBI)TMC   
Domain families : Pfam (Sanger)TMC (PF07810)   
Domain families : Pfam (NCBI)pfam07810   
Conserved Domain (NCBI)TMC8
DMDM Disease mutations147138
Blocks (Seattle)TMC8
SuperfamilyQ8IU68
Human Protein Atlas [tissue]ENSG00000167895-TMC8 [tissue]
Peptide AtlasQ8IU68
HPRD08387
IPIIPI00302538   IPI00655718   IPI00182219   IPI00908360   IPI00952846   IPI00977829   
Protein Interaction databases
DIP (DOE-UCLA)Q8IU68
IntAct (EBI)Q8IU68
FunCoupENSG00000167895
BioGRIDTMC8
STRING (EMBL)TMC8
ZODIACTMC8
Ontologies - Pathways
QuickGOQ8IU68
Ontology : AmiGOregulation of cell growth  receptor binding  protein binding  extracellular space  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  ion transport  integral component of membrane  nuclear membrane  negative regulation of protein binding  negative regulation of protein oligomerization  zinc ion homeostasis  extracellular exosome  regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Ontology : EGO-EBIregulation of cell growth  receptor binding  protein binding  extracellular space  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  ion transport  integral component of membrane  nuclear membrane  negative regulation of protein binding  negative regulation of protein oligomerization  zinc ion homeostasis  extracellular exosome  regulation of extrinsic apoptotic signaling pathway via death domain receptors  
NDEx NetworkTMC8
Atlas of Cancer Signalling NetworkTMC8
Wikipedia pathwaysTMC8
Orthology - Evolution
OrthoDB147138
GeneTree (enSembl)ENSG00000167895
Phylogenetic Trees/Animal Genes : TreeFamTMC8
HOVERGENQ8IU68
HOGENOMQ8IU68
Homologs : HomoloGeneTMC8
Homology/Alignments : Family Browser (UCSC)TMC8
Gene fusions - Rearrangements
Tumor Fusion PortalTMC8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMC8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMC8
dbVarTMC8
ClinVarTMC8
1000_GenomesTMC8 
Exome Variant ServerTMC8
ExAC (Exome Aggregation Consortium)ENSG00000167895
GNOMAD BrowserENSG00000167895
Genetic variants : HAPMAP147138
Genomic Variants (DGV)TMC8 [DGVbeta]
DECIPHERTMC8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMC8 
Mutations
ICGC Data PortalTMC8 
TCGA Data PortalTMC8 
Broad Tumor PortalTMC8
OASIS PortalTMC8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMC8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMC8
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch TMC8
DgiDB (Drug Gene Interaction Database)TMC8
DoCM (Curated mutations)TMC8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMC8 (select a term)
intoGenTMC8
Cancer3DTMC8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM226400    605829   
Orphanet8531   
DisGeNETTMC8
MedgenTMC8
Genetic Testing Registry TMC8
NextProtQ8IU68 [Medical]
TSGene147138
GENETestsTMC8
Target ValidationTMC8
Huge Navigator TMC8 [HugePedia]
snp3D : Map Gene to Disease147138
BioCentury BCIQTMC8
ClinGenTMC8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD147138
Chemical/Pharm GKB GenePA134892288
Clinical trialTMC8
Miscellaneous
canSAR (ICR)TMC8 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMC8
EVEXTMC8
GoPubMedTMC8
iHOPTMC8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:38:40 CET 2017

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