Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3)

Identity

Alias (NCBI)LIS8
SMILE
HGNC (Hugo) TMTC3
HGNC Alias symbFLJ90492
SMILE
LocusID (NCBI) 160418
Atlas_Id 75023
Location 12q21.32  [Link to chromosome band 12q21]
Location_base_pair Starts at 88142307 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

 

External links

 

Nomenclature
HGNC (Hugo)TMTC3   26899
Cards
Entrez_Gene (NCBI)TMTC3    transmembrane O-mannosyltransferase targeting cadherins 3
AliasesLIS8; SMILE
GeneCards (Weizmann)TMTC3
Ensembl hg19 (Hinxton)ENSG00000139324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139324 [Gene_View]  ENSG00000139324 [Sequence]  chr12:88142307-88199887 [Contig_View]  TMTC3 [Vega]
ICGC DataPortalENSG00000139324
TCGA cBioPortalTMTC3
AceView (NCBI)TMTC3
Genatlas (Paris)TMTC3
SOURCE (Princeton)TMTC3
Genetics Home Reference (NIH)TMTC3
Genomic and cartography
GoldenPath hg38 (UCSC)TMTC3  -     chr12:88142307-88199887 +  12q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMTC3  -     12q21.32   [Description]    (hg19-Feb_2009)
GoldenPathTMTC3 - 12q21.32 [CytoView hg19]  TMTC3 - 12q21.32 [CytoView hg38]
ImmunoBaseENSG00000139324
Genome Data Viewer NCBITMTC3 [Mapview hg19]  
OMIM617218   617255   
Gene and transcription
Genbank (Entrez)AJ697717 AK023165 AK074973 AK290436 AK302755
RefSeq transcript (Entrez)NM_001366574 NM_001366579 NM_001366580 NM_001366583 NM_181783
Consensus coding sequences : CCDS (NCBI)TMTC3
Gene ExpressionTMTC3 [ NCBI-GEO ]   TMTC3 [ EBI - ARRAY_EXPRESS ]   TMTC3 [ SEEK ]   TMTC3 [ MEM ]
Gene Expression Viewer (FireBrowse)TMTC3 [ Firebrowse - Broad ]
GenevisibleExpression of TMTC3 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
PhosPhoSitePlusQ6ZXV5
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)DUF1736    TPR-contain_dom    TPR-like_helical_dom_sf    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
SuperfamilyQ6ZXV5
AlphaFold pdb e-kbQ6ZXV5   
Human Protein Atlas [tissue]ENSG00000139324-TMTC3 [tissue]
HPRD10243
Protein Interaction databases
DIP (DOE-UCLA)Q6ZXV5
IntAct (EBI)Q6ZXV5
BioGRIDTMTC3
STRING (EMBL)TMTC3
ZODIACTMTC3
Ontologies - Pathways
QuickGOQ6ZXV5
Ontology : AmiGOmannosyltransferase activity  dolichyl-phosphate-mannose-protein mannosyltransferase activity  protein binding  endoplasmic reticulum  integral component of membrane  response to endoplasmic reticulum stress  protein O-linked mannosylation  positive regulation of proteasomal protein catabolic process  
Ontology : EGO-EBImannosyltransferase activity  dolichyl-phosphate-mannose-protein mannosyltransferase activity  protein binding  endoplasmic reticulum  integral component of membrane  response to endoplasmic reticulum stress  protein O-linked mannosylation  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
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
MonarchTMTC3
1000_GenomesTMTC3 
Exome Variant ServerTMTC3
GNOMAD BrowserENSG00000139324
Varsome BrowserTMTC3
ACMGTMTC3 variants
VarityQ6ZXV5
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]  
Somatic Mutations in Cancer : COSMIC3DTMTC3
Mutations and Diseases : HGMDTMTC3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMTC3
DgiDB (Drug Gene Interaction Database)TMTC3
DoCM (Curated mutations)TMTC3
CIViC (Clinical Interpretations of Variants in Cancer)TMTC3
Cancer3DTMTC3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617218    617255   
Orphanet
DisGeNETTMTC3
MedgenTMTC3
Genetic Testing Registry TMTC3
NextProtQ6ZXV5 [Medical]
GENETestsTMTC3
Target ValidationTMTC3
Huge Navigator TMTC3 [HugePedia]
ClinGenTMTC3
Clinical trials, drugs, therapy
MyCancerGenomeTMTC3
Protein Interactions : CTDTMTC3
Pharm GKB GenePA142670720
PharosQ6ZXV5
Clinical trialTMTC3
Miscellaneous
canSAR (ICR)TMTC3
HarmonizomeTMTC3
DataMed IndexTMTC3
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMTC3
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 16:26:27 CEST 2021
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