Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TMTC2 (transmembrane and tetratricopeptide repeat containing 2)

Identity

Alias_symbol (synonym)DKFZp762A217
Other aliasIBDBP1
HGNC (Hugo) TMTC2
LocusID (NCBI) 160335
Atlas_Id 54938
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 83080934 and ends at 83528647 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  160335  transmembrane and tetratricopeptide repeat containing 2
AliasesIBDBP1
GeneCards (Weizmann)TMTC2
Ensembl hg19 (Hinxton)ENSG00000179104 [Gene_View]  chr12:83080934-83528647 [Contig_View]  TMTC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000179104 [Gene_View]  chr12:83080934-83528647 [Contig_View]  TMTC2 [Vega]
ICGC DataPortalENSG00000179104
TCGA cBioPortalTMTC2
AceView (NCBI)TMTC2
Genatlas (Paris)TMTC2
WikiGenes160335
SOURCE (Princeton)TMTC2
Genetics Home Reference (NIH)TMTC2
Genomic and cartography
GoldenPath hg19 (UCSC)TMTC2  -     chr12:83080934-83528647 +  12q21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMTC2  -     12q21.31   [Description]    (hg38-Dec_2013)
EnsemblTMTC2 - 12q21.31 [CytoView hg19]  TMTC2 - 12q21.31 [CytoView hg38]
Mapping of homologs : NCBITMTC2 [Mapview hg19]  TMTC2 [Mapview hg38]
OMIM615856   
Gene and transcription
Genbank (Entrez)AI972770 AK074634 AK299771 AK315285 AL834509
RefSeq transcript (Entrez)NM_001320321 NM_001320322 NM_152588
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)TMTC2
Cluster EST : UnigeneHs.577775 [ NCBI ]
CGAP (NCI)Hs.577775
Alternative Splicing GalleryENSG00000179104
Gene ExpressionTMTC2 [ NCBI-GEO ]   TMTC2 [ EBI - ARRAY_EXPRESS ]   TMTC2 [ SEEK ]   TMTC2 [ MEM ]
Gene Expression Viewer (FireBrowse)TMTC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160335
GTEX Portal (Tissue expression)TMTC2
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
Splice isoforms : SwissVarQ8N394
PhosPhoSitePlusQ8N394
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)DUF1736    TPR-contain_dom    TPR-like_helical_dom    TPR_1    TPR_2    TPR_repeat   
Domain families : Pfam (Sanger)DUF1736 (PF08409)    TPR_1 (PF00515)    TPR_11 (PF13414)    TPR_2 (PF07719)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam08409    pfam00515    pfam13414    pfam07719    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)TMTC2
DMDM Disease mutations160335
Blocks (Seattle)TMTC2
SuperfamilyQ8N394
Human Protein AtlasENSG00000179104
Peptide AtlasQ8N394
HPRD13230
IPIIPI00166522   IPI01021685   IPI01021825   IPI01021359   
Protein Interaction databases
DIP (DOE-UCLA)Q8N394
IntAct (EBI)Q8N394
FunCoupENSG00000179104
BioGRIDTMTC2
STRING (EMBL)TMTC2
ZODIACTMTC2
Ontologies - Pathways
QuickGOQ8N394
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  calcium ion homeostasis  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  calcium ion homeostasis  
NDEx NetworkTMTC2
Atlas of Cancer Signalling NetworkTMTC2
Wikipedia pathwaysTMTC2
Orthology - Evolution
OrthoDB160335
GeneTree (enSembl)ENSG00000179104
Phylogenetic Trees/Animal Genes : TreeFamTMTC2
HOVERGENQ8N394
HOGENOMQ8N394
Homologs : HomoloGeneTMTC2
Homology/Alignments : Family Browser (UCSC)TMTC2
Gene fusions - Rearrangements
Fusion : MitelmanKIF21A/TMTC2 [12q12/12q21.31]  [t(12;12)(q12;q21)]  
Fusion : MitelmanTENM4/TMTC2 [11q14.1/12q21.31]  [t(11;12)(q14;q21)]  
Fusion : MitelmanTMTC2/METTL25 [12q21.31/12q21.31]  [t(12;12)(q21;q21)]  
Fusion : MitelmanTMTC2/PPFIA2 [12q21.31/12q21.31]  [t(12;12)(q21;q21)]  
Fusion: TCGAKIF21A 12q12 TMTC2 12q21.31 LUAD
Fusion: TCGAODZ4 TMTC2 12q21.31 BRCA
Fusion: TCGATMTC2 12q21.31 C12orf26 LUAD
Fusion: TCGATMTC2 12q21.31 PPFIA2 12q21.31 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMTC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMTC2
dbVarTMTC2
ClinVarTMTC2
1000_GenomesTMTC2 
Exome Variant ServerTMTC2
ExAC (Exome Aggregation Consortium)TMTC2 (select the gene name)
Genetic variants : HAPMAP160335
Genomic Variants (DGV)TMTC2 [DGVbeta]
DECIPHER (Syndromes)12:83080934-83528647  ENSG00000179104
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]  
Mutations and Diseases : HGMDTMTC2
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 TMTC2
DgiDB (Drug Gene Interaction Database)TMTC2
DoCM (Curated mutations)TMTC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMTC2 (select a term)
intoGenTMTC2
Cancer3DTMTC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615856   
Orphanet
MedgenTMTC2
Genetic Testing Registry TMTC2
NextProtQ8N394 [Medical]
TSGene160335
GENETestsTMTC2
Huge Navigator TMTC2 [HugePedia]
snp3D : Map Gene to Disease160335
BioCentury BCIQTMTC2
ClinGenTMTC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD160335
Chemical/Pharm GKB GenePA142670719
Clinical trialTMTC2
Miscellaneous
canSAR (ICR)TMTC2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMTC2
EVEXTMTC2
GoPubMedTMTC2
iHOPTMTC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:22:52 CEST 2017

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