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

GTF2H4 (general transcription factor IIH subunit 4)

Identity

Alias_namesgeneral transcription factor IIH, polypeptide 4 (52kD subunit)
general transcription factor IIH, polypeptide 4, 52kDa
Alias_symbol (synonym)TFB2
TFIIH
P52
Other alias
HGNC (Hugo) GTF2H4
LocusID (NCBI) 2968
Atlas_Id 40781
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 30908200 and ends at 30914103 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)

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)GTF2H4   4658
Cards
Entrez_Gene (NCBI)GTF2H4  2968  general transcription factor IIH subunit 4
AliasesP52; TFB2; TFIIH
GeneCards (Weizmann)GTF2H4
Ensembl hg19 (Hinxton)ENSG00000213780 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213780 [Gene_View]  ENSG00000213780 [Sequence]  chr6:30908200-30914103 [Contig_View]  GTF2H4 [Vega]
ICGC DataPortalENSG00000213780
TCGA cBioPortalGTF2H4
AceView (NCBI)GTF2H4
Genatlas (Paris)GTF2H4
WikiGenes2968
SOURCE (Princeton)GTF2H4
Genetics Home Reference (NIH)GTF2H4
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2H4  -     chr6:30908200-30914103 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2H4  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblGTF2H4 - 6p21.33 [CytoView hg19]  GTF2H4 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIGTF2H4 [Mapview hg19]  GTF2H4 [Mapview hg38]
OMIM601760   
Gene and transcription
Genbank (Entrez)AK222607 AK298058 AK300239 AK309869 BC004935
RefSeq transcript (Entrez)NM_001517
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248
Consensus coding sequences : CCDS (NCBI)GTF2H4
Cluster EST : UnigeneHs.485070 [ NCBI ]
CGAP (NCI)Hs.485070
Alternative Splicing GalleryENSG00000213780
Gene ExpressionGTF2H4 [ NCBI-GEO ]   GTF2H4 [ EBI - ARRAY_EXPRESS ]   GTF2H4 [ SEEK ]   GTF2H4 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2968
GTEX Portal (Tissue expression)GTF2H4
Human Protein AtlasENSG00000213780-GTF2H4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92759   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92759  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92759
Splice isoforms : SwissVarQ92759
PhosPhoSitePlusQ92759
Domains : Interpro (EBI)TFIIH_p52/Tfb2   
Domain families : Pfam (Sanger)Tfb2 (PF03849)   
Domain families : Pfam (NCBI)pfam03849   
Conserved Domain (NCBI)GTF2H4
DMDM Disease mutations2968
Blocks (Seattle)GTF2H4
PDB (SRS)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
PDB (PDBSum)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
PDB (IMB)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
PDB (RSDB)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
Structural Biology KnowledgeBase5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
SCOP (Structural Classification of Proteins)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
CATH (Classification of proteins structures)5IVW    5IY6    5IY7    5IY8    5IY9    5OF4   
SuperfamilyQ92759
Human Protein Atlas [tissue]ENSG00000213780-GTF2H4 [tissue]
Peptide AtlasQ92759
HPRD03456
IPIIPI00016839   IPI01015708   IPI00798015   
Protein Interaction databases
DIP (DOE-UCLA)Q92759
IntAct (EBI)Q92759
FunCoupENSG00000213780
BioGRIDGTF2H4
STRING (EMBL)GTF2H4
ZODIACGTF2H4
Ontologies - Pathways
QuickGOQ92759
Ontology : AmiGOcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  ATPase activator activity  double-stranded DNA binding  DNA-binding transcription factor activity  protein kinase activity  protein binding  nucleus  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, 5'-to lesion  transcription initiation 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 CTD heptapeptide repeat kinase activity  nuclear speck  positive regulation of ATPase activity  nucleotide-excision repair, DNA incision  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  
Ontology : EGO-EBIcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  ATPase activator activity  double-stranded DNA binding  DNA-binding transcription factor activity  protein kinase activity  protein binding  nucleus  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, 5'-to lesion  transcription initiation 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 CTD heptapeptide repeat kinase activity  nuclear speck  positive regulation of ATPase activity  nucleotide-excision repair, DNA incision  phosphorylation of RNA polymerase II C-terminal domain  global genome nucleotide-excision repair  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair    Viral carcinogenesis   
NDEx NetworkGTF2H4
Atlas of Cancer Signalling NetworkGTF2H4
Wikipedia pathwaysGTF2H4
Orthology - Evolution
OrthoDB2968
GeneTree (enSembl)ENSG00000213780
Phylogenetic Trees/Animal Genes : TreeFamGTF2H4
HOVERGENQ92759
HOGENOMQ92759
Homologs : HomoloGeneGTF2H4
Homology/Alignments : Family Browser (UCSC)GTF2H4
Gene fusions - Rearrangements
Fusion : QuiverGTF2H4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H4
dbVarGTF2H4
ClinVarGTF2H4
1000_GenomesGTF2H4 
Exome Variant ServerGTF2H4
ExAC (Exome Aggregation Consortium)ENSG00000213780
GNOMAD BrowserENSG00000213780
Varsome BrowserGTF2H4
Genetic variants : HAPMAP2968
Genomic Variants (DGV)GTF2H4 [DGVbeta]
DECIPHERGTF2H4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2H4 
Mutations
ICGC Data PortalGTF2H4 
TCGA Data PortalGTF2H4 
Broad Tumor PortalGTF2H4
OASIS PortalGTF2H4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGTF2H4
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 GTF2H4
DgiDB (Drug Gene Interaction Database)GTF2H4
DoCM (Curated mutations)GTF2H4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H4 (select a term)
intoGenGTF2H4
Cancer3DGTF2H4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601760   
Orphanet
DisGeNETGTF2H4
MedgenGTF2H4
Genetic Testing Registry GTF2H4
NextProtQ92759 [Medical]
TSGene2968
GENETestsGTF2H4
Target ValidationGTF2H4
Huge Navigator GTF2H4 [HugePedia]
snp3D : Map Gene to Disease2968
BioCentury BCIQGTF2H4
ClinGenGTF2H4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2968
Chemical/Pharm GKB GenePA29044
Clinical trialGTF2H4
Miscellaneous
canSAR (ICR)GTF2H4 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2H4
EVEXGTF2H4
GoPubMedGTF2H4
iHOPGTF2H4
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 : Tue Nov 6 11:09:54 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.