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GTF2H2 (general transcription factor IIH subunit 2)

Identity

Alias (NCBI)BTF2
BTF2P44
T-BTF2P44
TFIIH
p44
HGNC (Hugo) GTF2H2
HGNC Alias symbBTF2
TFIIH
BTF2P44
T-BTF2P44
p44
HGNC Previous namegeneral transcription factor IIH, polypeptide 2 (44kD subunit)
 general transcription factor IIH, polypeptide 2, 44kDa
LocusID (NCBI) 2966
Atlas_Id 40779
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 70415374 and ends at 70447906 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)GTF2H2   4656
Cards
Entrez_Gene (NCBI)GTF2H2    general transcription factor IIH subunit 2
AliasesBTF2; BTF2P44; T-BTF2P44; TFIIH; 
p44
GeneCards (Weizmann)GTF2H2
Ensembl hg19 (Hinxton)ENSG00000145736 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145736 [Gene_View]  ENSG00000145736 [Sequence]  chr5:70415374-70447906 [Contig_View]  GTF2H2 [Vega]
ICGC DataPortalENSG00000145736
TCGA cBioPortalGTF2H2
AceView (NCBI)GTF2H2
Genatlas (Paris)GTF2H2
SOURCE (Princeton)GTF2H2
Genetics Home Reference (NIH)GTF2H2
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2H2  -     chr5:70415374-70447906 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2H2  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathGTF2H2 - 5q13.2 [CytoView hg19]  GTF2H2 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000145736
Genome Data Viewer NCBIGTF2H2 [Mapview hg19]  
OMIM601748   
Gene and transcription
Genbank (Entrez)AF078847 AH003062 AH003062 AK296578 BC005345
RefSeq transcript (Entrez)NM_001364567 NM_001364568 NM_001364569 NM_001364570 NM_001364571 NM_001364572 NM_001364573 NM_001515
Consensus coding sequences : CCDS (NCBI)GTF2H2
Gene ExpressionGTF2H2 [ NCBI-GEO ]   GTF2H2 [ EBI - ARRAY_EXPRESS ]   GTF2H2 [ SEEK ]   GTF2H2 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H2 [ Firebrowse - Broad ]
GenevisibleExpression of GTF2H2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2966
GTEX Portal (Tissue expression)GTF2H2
Human Protein AtlasENSG00000145736-GTF2H2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13888   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13888  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13888
PhosPhoSitePlusQ13888
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Ssl1-like    TFIIH_C1-like_dom    TFIIH_SSL1/p44    VWF_A    vWFA_dom_sf    Znf_C2H2_type    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)C1_4 (PF07975)    Ssl1 (PF04056)   
Domain families : Pfam (NCBI)pfam07975    pfam04056   
Domain families : Smart (EMBL)C1_4 (SM01047)  VWA (SM00327)  
Conserved Domain (NCBI)GTF2H2
PDB (RSDB)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB Europe1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB (PDBSum)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
PDB (IMB)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
Structural Biology KnowledgeBase1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
SCOP (Structural Classification of Proteins)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
CATH (Classification of proteins structures)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9    5O85    5OF4    6NMI    6O9L    6O9M    6RO4   
SuperfamilyQ13888
AlphaFold pdb e-kbQ13888   
Human Protein Atlas [tissue]ENSG00000145736-GTF2H2 [tissue]
HPRD03450
Protein Interaction databases
DIP (DOE-UCLA)Q13888
IntAct (EBI)Q13888
BioGRIDGTF2H2
STRING (EMBL)GTF2H2
ZODIACGTF2H2
Ontologies - Pathways
QuickGOQ13888
Ontology : AmiGOcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  nucleotide-excision repair, DNA duplex unwinding  G protein-coupled receptor internalization  protein binding  nucleus  nucleoplasm  transcription factor TFIID complex  transcription factor TFIIH holo complex  transcription factor TFIIH holo complex  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  regulation of transcription by RNA polymerase II  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 initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  zinc ion binding  response to UV  RNA polymerase II general transcription initiation factor activity  nuclear speck  nucleotide-excision repair, DNA incision  protein N-terminus binding  global genome nucleotide-excision repair  positive regulation of DNA helicase activity  
Ontology : EGO-EBIcore TFIIH complex portion of holo TFIIH complex  transcription factor TFIIH core complex  nucleotide-excision repair, DNA duplex unwinding  G protein-coupled receptor internalization  protein binding  nucleus  nucleoplasm  transcription factor TFIID complex  transcription factor TFIIH holo complex  transcription factor TFIIH holo complex  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  regulation of transcription by RNA polymerase II  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 initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  zinc ion binding  response to UV  RNA polymerase II general transcription initiation factor activity  nuclear speck  nucleotide-excision repair, DNA incision  protein N-terminus binding  global genome nucleotide-excision repair  positive regulation of DNA helicase activity  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair    Viral carcinogenesis   
NDEx NetworkGTF2H2
Atlas of Cancer Signalling NetworkGTF2H2
Wikipedia pathwaysGTF2H2
Orthology - Evolution
OrthoDB2966
GeneTree (enSembl)ENSG00000145736
Phylogenetic Trees/Animal Genes : TreeFamGTF2H2
Homologs : HomoloGeneGTF2H2
Homology/Alignments : Family Browser (UCSC)GTF2H2
Gene fusions - Rearrangements
Fusion : QuiverGTF2H2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H2
dbVarGTF2H2
ClinVarGTF2H2
MonarchGTF2H2
1000_GenomesGTF2H2 
Exome Variant ServerGTF2H2
GNOMAD BrowserENSG00000145736
Varsome BrowserGTF2H2
ACMGGTF2H2 variants
VarityQ13888
Genomic Variants (DGV)GTF2H2 [DGVbeta]
DECIPHERGTF2H2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2H2 
Mutations
ICGC Data PortalGTF2H2 
TCGA Data PortalGTF2H2 
Broad Tumor PortalGTF2H2
OASIS PortalGTF2H2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2H2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGTF2H2
Mutations and Diseases : HGMDGTF2H2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGTF2H2
DgiDB (Drug Gene Interaction Database)GTF2H2
DoCM (Curated mutations)GTF2H2
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H2
Cancer3DGTF2H2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601748   
Orphanet
DisGeNETGTF2H2
MedgenGTF2H2
Genetic Testing Registry GTF2H2
NextProtQ13888 [Medical]
GENETestsGTF2H2
Target ValidationGTF2H2
Huge Navigator GTF2H2 [HugePedia]
ClinGenGTF2H2
Clinical trials, drugs, therapy
MyCancerGenomeGTF2H2
Protein Interactions : CTDGTF2H2
Pharm GKB GenePA29042
PharosQ13888
Clinical trialGTF2H2
Miscellaneous
canSAR (ICR)GTF2H2
HarmonizomeGTF2H2
ARCHS4GTF2H2
DataMed IndexGTF2H2
Probes
Litterature
PubMed95 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGTF2H2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:13:22 CET 2022

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