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TMC2 (transmembrane channel like 2)

Identity

Alias_namesC20orf145
transmembrane
Alias_symbol (synonym)dJ686C3.3
Other alias
HGNC (Hugo) TMC2
LocusID (NCBI) 117532
Atlas_Id 54703
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 2536607 and ends at 2641784 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EBF4 (20p13) / TMC2 (20p13)NBEAL2 (3p21.31) / TMC2 (20p13)EBF4 20p13 / TMC2 20p13
NBEAL2 3p21.31 / TMC2 20p13

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)TMC2   16527
Cards
Entrez_Gene (NCBI)TMC2  117532  transmembrane channel like 2
AliasesC20orf145
GeneCards (Weizmann)TMC2
Ensembl hg19 (Hinxton)ENSG00000149488 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149488 [Gene_View]  chr20:2536607-2641784 [Contig_View]  TMC2 [Vega]
ICGC DataPortalENSG00000149488
TCGA cBioPortalTMC2
AceView (NCBI)TMC2
Genatlas (Paris)TMC2
WikiGenes117532
SOURCE (Princeton)TMC2
Genetics Home Reference (NIH)TMC2
Genomic and cartography
GoldenPath hg38 (UCSC)TMC2  -     chr20:2536607-2641784 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMC2  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblTMC2 - 20p13 [CytoView hg19]  TMC2 - 20p13 [CytoView hg38]
Mapping of homologs : NCBITMC2 [Mapview hg19]  TMC2 [Mapview hg38]
OMIM606707   
Gene and transcription
Genbank (Entrez)AF417580 AK094789 AK127751 AK294013 AK309782
RefSeq transcript (Entrez)NM_080751
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMC2
Cluster EST : UnigeneHs.352626 [ NCBI ]
CGAP (NCI)Hs.352626
Alternative Splicing GalleryENSG00000149488
Gene ExpressionTMC2 [ NCBI-GEO ]   TMC2 [ EBI - ARRAY_EXPRESS ]   TMC2 [ SEEK ]   TMC2 [ MEM ]
Gene Expression Viewer (FireBrowse)TMC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117532
GTEX Portal (Tissue expression)TMC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDI7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDI7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDI7
Splice isoforms : SwissVarQ8TDI7
PhosPhoSitePlusQ8TDI7
Domains : Interpro (EBI)TMC   
Domain families : Pfam (Sanger)TMC (PF07810)   
Domain families : Pfam (NCBI)pfam07810   
Conserved Domain (NCBI)TMC2
DMDM Disease mutations117532
Blocks (Seattle)TMC2
SuperfamilyQ8TDI7
Human Protein AtlasENSG00000149488
Peptide AtlasQ8TDI7
HPRD09463
IPIIPI00152536   IPI00643597   IPI00444110   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDI7
IntAct (EBI)Q8TDI7
FunCoupENSG00000149488
BioGRIDTMC2
STRING (EMBL)TMC2
ZODIACTMC2
Ontologies - Pathways
QuickGOQ8TDI7
Ontology : AmiGOvoltage-gated calcium channel activity  mechanically-gated ion channel activity  integral component of membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  vestibular reflex  calcium ion transmembrane transport  regulation of calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated calcium channel activity  mechanically-gated ion channel activity  integral component of membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  vestibular reflex  calcium ion transmembrane transport  regulation of calcium ion transmembrane transport  
NDEx NetworkTMC2
Atlas of Cancer Signalling NetworkTMC2
Wikipedia pathwaysTMC2
Orthology - Evolution
OrthoDB117532
GeneTree (enSembl)ENSG00000149488
Phylogenetic Trees/Animal Genes : TreeFamTMC2
HOVERGENQ8TDI7
HOGENOMQ8TDI7
Homologs : HomoloGeneTMC2
Homology/Alignments : Family Browser (UCSC)TMC2
Gene fusions - Rearrangements
Fusion : MitelmanNBEAL2/TMC2 [3p21.31/20p13]  [t(3;20)(p21;p13)]  
Fusion: TCGAEBF4 20p13 TMC2 20p13 GBM
Fusion: TCGANBEAL2 3p21.31 TMC2 20p13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMC2
dbVarTMC2
ClinVarTMC2
1000_GenomesTMC2 
Exome Variant ServerTMC2
ExAC (Exome Aggregation Consortium)TMC2 (select the gene name)
Genetic variants : HAPMAP117532
Genomic Variants (DGV)TMC2 [DGVbeta]
DECIPHERTMC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMC2 
Mutations
ICGC Data PortalTMC2 
TCGA Data PortalTMC2 
Broad Tumor PortalTMC2
OASIS PortalTMC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMC2
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 TMC2
DgiDB (Drug Gene Interaction Database)TMC2
DoCM (Curated mutations)TMC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMC2 (select a term)
intoGenTMC2
Cancer3DTMC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606707   
Orphanet
MedgenTMC2
Genetic Testing Registry TMC2
NextProtQ8TDI7 [Medical]
TSGene117532
GENETestsTMC2
Target ValidationTMC2
Huge Navigator TMC2 [HugePedia]
snp3D : Map Gene to Disease117532
BioCentury BCIQTMC2
ClinGenTMC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117532
Chemical/Pharm GKB GenePA38158
Clinical trialTMC2
Miscellaneous
canSAR (ICR)TMC2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMC2
EVEXTMC2
GoPubMedTMC2
iHOPTMC2
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 12:59:35 CEST 2017

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