Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TMTC3 (transmembrane and tetratricopeptide repeat containing 3)

Identity

Alias_symbol (synonym)FLJ90492
SMILE
Other aliasLIS8
HGNC (Hugo) TMTC3
LocusID (NCBI) 160418
Atlas_Id 75023
Location 12q21.32  [Link to chromosome band 12q21]
Location_base_pair Starts at 88142296 and ends at 88199887 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)
TMTC3 (12q21.32) / RPL4 (15q22.31)TMTC3 (12q21.32) / THAP2 (12q21.1)TMTC3 (12q21.32) / TMTC3 (12q21.32)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(q21;q21) TMTC3/THAP2

External links

Nomenclature
HGNC (Hugo)TMTC3   26899
Cards
Entrez_Gene (NCBI)TMTC3  160418  transmembrane and tetratricopeptide repeat containing 3
AliasesLIS8; SMILE
GeneCards (Weizmann)TMTC3
Ensembl hg19 (Hinxton)ENSG00000139324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139324 [Gene_View]  chr12:88142296-88199887 [Contig_View]  TMTC3 [Vega]
ICGC DataPortalENSG00000139324
TCGA cBioPortalTMTC3
AceView (NCBI)TMTC3
Genatlas (Paris)TMTC3
WikiGenes160418
SOURCE (Princeton)TMTC3
Genetics Home Reference (NIH)TMTC3
Genomic and cartography
GoldenPath hg38 (UCSC)TMTC3  -     chr12:88142296-88199887 +  12q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMTC3  -     12q21.32   [Description]    (hg19-Feb_2009)
EnsemblTMTC3 - 12q21.32 [CytoView hg19]  TMTC3 - 12q21.32 [CytoView hg38]
Mapping of homologs : NCBITMTC3 [Mapview hg19]  TMTC3 [Mapview hg38]
OMIM617218   617255   
Gene and transcription
Genbank (Entrez)AJ697717 AK023165 AK074973 AK290436 AK302755
RefSeq transcript (Entrez)NM_181783
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMTC3
Cluster EST : UnigeneHs.331268 [ NCBI ]
CGAP (NCI)Hs.331268
Alternative Splicing GalleryENSG00000139324
Gene ExpressionTMTC3 [ NCBI-GEO ]   TMTC3 [ EBI - ARRAY_EXPRESS ]   TMTC3 [ SEEK ]   TMTC3 [ MEM ]
Gene Expression Viewer (FireBrowse)TMTC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160418
GTEX Portal (Tissue expression)TMTC3
Human Protein AtlasENSG00000139324-TMTC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZXV5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZXV5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZXV5
Splice isoforms : SwissVarQ6ZXV5
PhosPhoSitePlusQ6ZXV5
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)DUF1736    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)DUF1736 (PF08409)    TPR_6 (PF13174)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam08409    pfam13174    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)TMTC3
DMDM Disease mutations160418
Blocks (Seattle)TMTC3
SuperfamilyQ6ZXV5
Human Protein Atlas [tissue]ENSG00000139324-TMTC3 [tissue]
Peptide AtlasQ6ZXV5
HPRD10243
IPIIPI00829865   IPI00470924   IPI01021462   IPI01022263   IPI01022407   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZXV5
IntAct (EBI)Q6ZXV5
FunCoupENSG00000139324
BioGRIDTMTC3
STRING (EMBL)TMTC3
ZODIACTMTC3
Ontologies - Pathways
QuickGOQ6ZXV5
Ontology : AmiGOprotein binding  endoplasmic reticulum  integral component of membrane  response to endoplasmic reticulum stress  positive regulation of proteasomal protein catabolic process  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  integral component of membrane  response to endoplasmic reticulum stress  positive regulation of proteasomal protein catabolic process  
NDEx NetworkTMTC3
Atlas of Cancer Signalling NetworkTMTC3
Wikipedia pathwaysTMTC3
Orthology - Evolution
OrthoDB160418
GeneTree (enSembl)ENSG00000139324
Phylogenetic Trees/Animal Genes : TreeFamTMTC3
HOVERGENQ6ZXV5
HOGENOMQ6ZXV5
Homologs : HomoloGeneTMTC3
Homology/Alignments : Family Browser (UCSC)TMTC3
Gene fusions - Rearrangements
Fusion : QuiverTMTC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMTC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMTC3
dbVarTMTC3
ClinVarTMTC3
1000_GenomesTMTC3 
Exome Variant ServerTMTC3
ExAC (Exome Aggregation Consortium)ENSG00000139324
GNOMAD BrowserENSG00000139324
Genetic variants : HAPMAP160418
Genomic Variants (DGV)TMTC3 [DGVbeta]
DECIPHERTMTC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMTC3 
Mutations
ICGC Data PortalTMTC3 
TCGA Data PortalTMTC3 
Broad Tumor PortalTMTC3
OASIS PortalTMTC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMTC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMTC3
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 TMTC3
DgiDB (Drug Gene Interaction Database)TMTC3
DoCM (Curated mutations)TMTC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMTC3 (select a term)
intoGenTMTC3
Cancer3DTMTC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617218    617255   
Orphanet
DisGeNETTMTC3
MedgenTMTC3
Genetic Testing Registry TMTC3
NextProtQ6ZXV5 [Medical]
TSGene160418
GENETestsTMTC3
Target ValidationTMTC3
Huge Navigator TMTC3 [HugePedia]
snp3D : Map Gene to Disease160418
BioCentury BCIQTMTC3
ClinGenTMTC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD160418
Chemical/Pharm GKB GenePA142670720
Clinical trialTMTC3
Miscellaneous
canSAR (ICR)TMTC3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMTC3
EVEXTMTC3
GoPubMedTMTC3
iHOPTMTC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Feb 23 18:56:23 CET 2018
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.