Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2)

Identity

Alias (NCBI)IBDBP1
HGNC (Hugo) TMTC2
HGNC Alias symbDKFZp762A217
HGNC Previous nametransmembrane and tetratricopeptide repeat containing 2
LocusID (NCBI) 160335
Atlas_Id 54938
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 82686906 and ends at 83134865 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)
F3 (1p21.3) / TMTC2 (12q21.31)KIF21A (12q12) / TMTC2 (12q21.31)TENM4 (11q14.1) / TMTC2 (12q21.31)
TMTC2 (12q21.31) / METTL25 (12q21.31)TMTC2 (12q21.31) / PPFIA2 (12q21.31)KIF21A 12q12 / TMTC2 12q21.31
ODZ4 TMTC2 12q21.31TMTC2 12q21.31 C12orf26TMTC2 12q21.31 / PPFIA2 12q21.31

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)TMTC2   25440
Cards
Entrez_Gene (NCBI)TMTC2    transmembrane O-mannosyltransferase targeting cadherins 2
AliasesIBDBP1
GeneCards (Weizmann)TMTC2
Ensembl hg19 (Hinxton)ENSG00000179104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179104 [Gene_View]  ENSG00000179104 [Sequence]  chr12:82686906-83134865 [Contig_View]  TMTC2 [Vega]
ICGC DataPortalENSG00000179104
TCGA cBioPortalTMTC2
AceView (NCBI)TMTC2
Genatlas (Paris)TMTC2
SOURCE (Princeton)TMTC2
Genetics Home Reference (NIH)TMTC2
Genomic and cartography
GoldenPath hg38 (UCSC)TMTC2  -     chr12:82686906-83134865 +  12q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMTC2  -     12q21.31   [Description]    (hg19-Feb_2009)
GoldenPathTMTC2 - 12q21.31 [CytoView hg19]  TMTC2 - 12q21.31 [CytoView hg38]
ImmunoBaseENSG00000179104
Genome Data Viewer NCBITMTC2 [Mapview hg19]  
OMIM615856   
Gene and transcription
Genbank (Entrez)AI972770 AK074634 AK299771 AK315285 AL834509
RefSeq transcript (Entrez)NM_001320321 NM_001320322 NM_152588
Consensus coding sequences : CCDS (NCBI)TMTC2
Gene ExpressionTMTC2 [ NCBI-GEO ]   TMTC2 [ EBI - ARRAY_EXPRESS ]   TMTC2 [ SEEK ]   TMTC2 [ MEM ]
Gene Expression Viewer (FireBrowse)TMTC2 [ Firebrowse - Broad ]
GenevisibleExpression of TMTC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160335
GTEX Portal (Tissue expression)TMTC2
Human Protein AtlasENSG00000179104-TMTC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N394   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N394  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N394
PhosPhoSitePlusQ8N394
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)DUF1736    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_1    TPR_repeat   
Domain families : Pfam (Sanger)DUF1736 (PF08409)    TPR_1 (PF00515)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam08409    pfam00515    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)TMTC2
SuperfamilyQ8N394
AlphaFold pdb e-kbQ8N394   
Human Protein Atlas [tissue]ENSG00000179104-TMTC2 [tissue]
HPRD13230
Protein Interaction databases
DIP (DOE-UCLA)Q8N394
IntAct (EBI)Q8N394
BioGRIDTMTC2
STRING (EMBL)TMTC2
ZODIACTMTC2
Ontologies - Pathways
QuickGOQ8N394
Ontology : AmiGOmannosyltransferase activity  dolichyl-phosphate-mannose-protein mannosyltransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  protein O-linked mannosylation  calcium ion homeostasis  
Ontology : EGO-EBImannosyltransferase activity  dolichyl-phosphate-mannose-protein mannosyltransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  protein O-linked mannosylation  calcium ion homeostasis  
NDEx NetworkTMTC2
Atlas of Cancer Signalling NetworkTMTC2
Wikipedia pathwaysTMTC2
Orthology - Evolution
OrthoDB160335
GeneTree (enSembl)ENSG00000179104
Phylogenetic Trees/Animal Genes : TreeFamTMTC2
Homologs : HomoloGeneTMTC2
Homology/Alignments : Family Browser (UCSC)TMTC2
Gene fusions - Rearrangements
Fusion : MitelmanKIF21A/TMTC2 [12q12/12q21.31]  
Fusion : MitelmanTENM4/TMTC2 [11q14.1/12q21.31]  
Fusion : MitelmanTMTC2/METTL25 [12q21.31/12q21.31]  
Fusion : MitelmanTMTC2/PPFIA2 [12q21.31/12q21.31]  
Fusion : QuiverTMTC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMTC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMTC2
dbVarTMTC2
ClinVarTMTC2
MonarchTMTC2
1000_GenomesTMTC2 
Exome Variant ServerTMTC2
GNOMAD BrowserENSG00000179104
Varsome BrowserTMTC2
ACMGTMTC2 variants
VarityQ8N394
Genomic Variants (DGV)TMTC2 [DGVbeta]
DECIPHERTMTC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMTC2 
Mutations
ICGC Data PortalTMTC2 
TCGA Data PortalTMTC2 
Broad Tumor PortalTMTC2
OASIS PortalTMTC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMTC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMTC2
Mutations and Diseases : HGMDTMTC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMTC2
DgiDB (Drug Gene Interaction Database)TMTC2
DoCM (Curated mutations)TMTC2
CIViC (Clinical Interpretations of Variants in Cancer)TMTC2
Cancer3DTMTC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615856   
Orphanet
DisGeNETTMTC2
MedgenTMTC2
Genetic Testing Registry TMTC2
NextProtQ8N394 [Medical]
GENETestsTMTC2
Target ValidationTMTC2
Huge Navigator TMTC2 [HugePedia]
ClinGenTMTC2
Clinical trials, drugs, therapy
MyCancerGenomeTMTC2
Protein Interactions : CTDTMTC2
Pharm GKB GenePA142670719
PharosQ8N394
Clinical trialTMTC2
Miscellaneous
canSAR (ICR)TMTC2
HarmonizomeTMTC2
DataMed IndexTMTC2
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMTC2
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 15:35:39 CEST 2021

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