Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GTF2H3 (general transcription factor IIH subunit 3)

Identity

Alias_namesgeneral transcription factor IIH, polypeptide 3 (34kD subunit)
general transcription factor IIH, polypeptide 3, 34kDa
Alias_symbol (synonym)BTF2
TFIIH
P34
Other aliasTFB4
HGNC (Hugo) GTF2H3
LocusID (NCBI) 2967
Atlas_Id 40780
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123633829 and ends at 123662604 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)
GTF2H3 (12q24.31) / DDX55 (12q24.31)GTF2H3 (12q24.31) / GTF2H3 (12q24.31)GTF2H3 (12q24.31) / PGC (6p21.1)
GTF2H3 (12q24.31) / ZNF556 (19p13.3)GTF2H3 12q24.31 / PGC 6p21.1

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(12)(q24q24) SETD1B/GTF2H3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;12)(p21;q24) GTF2H3/PGC
GTF2H3/DDX55 (12q24)

External links

Nomenclature
HGNC (Hugo)GTF2H3   4657
Cards
Entrez_Gene (NCBI)GTF2H3  2967  general transcription factor IIH subunit 3
AliasesBTF2; P34; TFB4; TFIIH
GeneCards (Weizmann)GTF2H3
Ensembl hg19 (Hinxton)ENSG00000111358 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111358 [Gene_View]  ENSG00000111358 [Sequence]  chr12:123633829-123662604 [Contig_View]  GTF2H3 [Vega]
ICGC DataPortalENSG00000111358
TCGA cBioPortalGTF2H3
AceView (NCBI)GTF2H3
Genatlas (Paris)GTF2H3
WikiGenes2967
SOURCE (Princeton)GTF2H3
Genetics Home Reference (NIH)GTF2H3
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2H3  -     chr12:123633829-123662604 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2H3  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathGTF2H3 - 12q24.31 [CytoView hg19]  GTF2H3 - 12q24.31 [CytoView hg38]
ImmunoBaseENSG00000111358
genome Data Viewer NCBIGTF2H3 [Mapview hg19]  
OMIM601750   
Gene and transcription
Genbank (Entrez)AK298128 AK313200 AL558542 AL600169 BC013216
RefSeq transcript (Entrez)NM_001271866 NM_001271867 NM_001271868 NM_001516
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GTF2H3
Alternative Splicing GalleryENSG00000111358
Gene ExpressionGTF2H3 [ NCBI-GEO ]   GTF2H3 [ EBI - ARRAY_EXPRESS ]   GTF2H3 [ SEEK ]   GTF2H3 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H3 [ Firebrowse - Broad ]
GenevisibleExpression of GTF2H3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2967
GTEX Portal (Tissue expression)GTF2H3
Human Protein AtlasENSG00000111358-GTF2H3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13889   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13889  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13889
Splice isoforms : SwissVarQ13889
PhosPhoSitePlusQ13889
Domains : Interpro (EBI)TFIIH_Tfb4/GTF2H3    vWFA_dom_sf   
Domain families : Pfam (Sanger)Tfb4 (PF03850)   
Domain families : Pfam (NCBI)pfam03850   
Conserved Domain (NCBI)GTF2H3
DMDM Disease mutations2967
Blocks (Seattle)GTF2H3
PDB (RSDB)5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB Europe5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB (PDBSum)5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB (IMB)5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
Structural Biology KnowledgeBase5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
SCOP (Structural Classification of Proteins)5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
CATH (Classification of proteins structures)5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
SuperfamilyQ13889
Human Protein Atlas [tissue]ENSG00000111358-GTF2H3 [tissue]
Peptide AtlasQ13889
HPRD07531
IPIIPI00100791   IPI01011043   IPI01013414   IPI01011371   IPI01010954   IPI01010418   IPI01009488   IPI01010821   IPI01015537   IPI01009911   
Protein Interaction databases
DIP (DOE-UCLA)Q13889
IntAct (EBI)Q13889
FunCoupENSG00000111358
BioGRIDGTF2H3
STRING (EMBL)GTF2H3
ZODIACGTF2H3
Ontologies - Pathways
QuickGOQ13889
Ontology : AmiGOcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  nucleotide-excision repair, DNA duplex unwinding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor TFIID complex  transcription factor TFIIH holo complex  transcription factor TFIIH holo complex  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  DNA-dependent ATPase activity  RNA polymerase II CTD heptapeptide repeat kinase activity  RNA polymerase II general transcription initiation factor activity  nucleotide-excision repair, DNA incision  metal ion binding  protein N-terminus binding  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  transcriptional preinitiation complex  
Ontology : EGO-EBIcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  nucleotide-excision repair, DNA duplex unwinding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor TFIID complex  transcription factor TFIIH holo complex  transcription factor TFIIH holo complex  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  DNA-dependent ATPase activity  RNA polymerase II CTD heptapeptide repeat kinase activity  RNA polymerase II general transcription initiation factor activity  nucleotide-excision repair, DNA incision  metal ion binding  protein N-terminus binding  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  transcriptional preinitiation complex  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair    Viral carcinogenesis   
NDEx NetworkGTF2H3
Atlas of Cancer Signalling NetworkGTF2H3
Wikipedia pathwaysGTF2H3
Orthology - Evolution
OrthoDB2967
GeneTree (enSembl)ENSG00000111358
Phylogenetic Trees/Animal Genes : TreeFamGTF2H3
HOGENOMQ13889
Homologs : HomoloGeneGTF2H3
Homology/Alignments : Family Browser (UCSC)GTF2H3
Gene fusions - Rearrangements
Fusion : MitelmanGTF2H3/DDX55 [12q24.31/12q24.31]  
Fusion : MitelmanGTF2H3/PGC [12q24.31/6p21.1]  
Fusion PortalGTF2H3 12q24.31 PGC 6p21.1 GBM
Fusion : QuiverGTF2H3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H3
dbVarGTF2H3
ClinVarGTF2H3
1000_GenomesGTF2H3 
Exome Variant ServerGTF2H3
GNOMAD BrowserENSG00000111358
Varsome BrowserGTF2H3
Genetic variants : HAPMAP2967
Genomic Variants (DGV)GTF2H3 [DGVbeta]
DECIPHERGTF2H3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2H3 
Mutations
ICGC Data PortalGTF2H3 
TCGA Data PortalGTF2H3 
Broad Tumor PortalGTF2H3
OASIS PortalGTF2H3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2H3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGTF2H3
Mutations and Diseases : HGMDGTF2H3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GTF2H3
DgiDB (Drug Gene Interaction Database)GTF2H3
DoCM (Curated mutations)GTF2H3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H3 (select a term)
intoGenGTF2H3
Cancer3DGTF2H3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601750   
Orphanet
DisGeNETGTF2H3
MedgenGTF2H3
Genetic Testing Registry GTF2H3
NextProtQ13889 [Medical]
TSGene2967
GENETestsGTF2H3
Target ValidationGTF2H3
Huge Navigator GTF2H3 [HugePedia]
snp3D : Map Gene to Disease2967
BioCentury BCIQGTF2H3
ClinGenGTF2H3
Clinical trials, drugs, therapy
Protein Interactions : CTD2967
Pharm GKB GenePA29043
Clinical trialGTF2H3
Miscellaneous
canSAR (ICR)GTF2H3 (select the gene name)
HarmonizomeGTF2H3
DataMed IndexGTF2H3
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2H3
EVEXGTF2H3
GoPubMedGTF2H3
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 Jul 10 19:20:42 CEST 2020
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