Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GTF2H2 (general transcription factor IIH subunit 2)

Identity

Alias_namesgeneral transcription factor IIH, polypeptide 2 (44kD subunit)
general transcription factor IIH, polypeptide 2, 44kDa
Alias_symbol (synonym)BTF2
TFIIH
BTF2P44
T-BTF2P44
p44
Other alias
HGNC (Hugo) GTF2H2
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)

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  2966  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]  chr5:70415374-70447906 [Contig_View]  GTF2H2 [Vega]
ICGC DataPortalENSG00000145736
TCGA cBioPortalGTF2H2
AceView (NCBI)GTF2H2
Genatlas (Paris)GTF2H2
WikiGenes2966
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)
EnsemblGTF2H2 - 5q13.2 [CytoView hg19]  GTF2H2 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIGTF2H2 [Mapview hg19]  GTF2H2 [Mapview hg38]
OMIM601748   
Gene and transcription
Genbank (Entrez)AF078847 AH003062 AH003062 AK296578 BC005345
RefSeq transcript (Entrez)NM_001515
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_187651
Consensus coding sequences : CCDS (NCBI)GTF2H2
Cluster EST : UnigeneHs.607501 [ NCBI ]
CGAP (NCI)Hs.607501
Alternative Splicing GalleryENSG00000145736
Gene ExpressionGTF2H2 [ NCBI-GEO ]   GTF2H2 [ EBI - ARRAY_EXPRESS ]   GTF2H2 [ SEEK ]   GTF2H2 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2966
GTEX Portal (Tissue expression)GTF2H2
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
Splice isoforms : SwissVarQ13888
PhosPhoSitePlusQ13888
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Ssl1-like    TFIIH_C1-like_dom    TFIIH_SSL1/p44    VWF_A    Znf_C2H2   
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
DMDM Disease mutations2966
Blocks (Seattle)GTF2H2
PDB (SRS)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
PDB (PDBSum)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
PDB (IMB)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
PDB (RSDB)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
Structural Biology KnowledgeBase1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
SCOP (Structural Classification of Proteins)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
CATH (Classification of proteins structures)1Z60    5IVW    5IY6    5IY7    5IY8    5IY9   
SuperfamilyQ13888
Human Protein AtlasENSG00000145736
Peptide AtlasQ13888
HPRD03450
IPIIPI00426640   IPI00738524   IPI01024959   IPI01015993   IPI00977274   IPI00967957   IPI00973412   IPI00964639   IPI00964847   IPI00964302   
Protein Interaction databases
DIP (DOE-UCLA)Q13888
IntAct (EBI)Q13888
FunCoupENSG00000145736
BioGRIDGTF2H2
STRING (EMBL)GTF2H2
ZODIACGTF2H2
Ontologies - Pathways
QuickGOQ13888
Ontology : AmiGOcore TFIIH complex portion of holo TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  G-protein coupled receptor internalization  nucleic acid binding  transcription factor activity, sequence-specific DNA binding  protein kinase activity  protein binding  nucleus  nucleoplasm  transcription factor TFIID complex  holo TFIIH 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 from RNA polymerase II promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  translation  protein phosphorylation  DNA-dependent ATPase activity  translation factor activity, RNA binding  zinc ion binding  RNA polymerase II carboxy-terminal domain kinase activity  response to UV  nuclear speck  nucleotide-excision repair, DNA incision  protein N-terminus binding  global genome nucleotide-excision repair  
Ontology : EGO-EBIcore TFIIH complex portion of holo TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  G-protein coupled receptor internalization  nucleic acid binding  transcription factor activity, sequence-specific DNA binding  protein kinase activity  protein binding  nucleus  nucleoplasm  transcription factor TFIID complex  holo TFIIH 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 from RNA polymerase II promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  translation  protein phosphorylation  DNA-dependent ATPase activity  translation factor activity, RNA binding  zinc ion binding  RNA polymerase II carboxy-terminal domain kinase activity  response to UV  nuclear speck  nucleotide-excision repair, DNA incision  protein N-terminus binding  global genome nucleotide-excision repair  
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
HOVERGENQ13888
HOGENOMQ13888
Homologs : HomoloGeneGTF2H2
Homology/Alignments : Family Browser (UCSC)GTF2H2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H2
dbVarGTF2H2
ClinVarGTF2H2
1000_GenomesGTF2H2 
Exome Variant ServerGTF2H2
ExAC (Exome Aggregation Consortium)GTF2H2 (select the gene name)
Genetic variants : HAPMAP2966
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]  
Mutations and Diseases : HGMDGTF2H2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GTF2H2
DgiDB (Drug Gene Interaction Database)GTF2H2
DoCM (Curated mutations)GTF2H2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H2 (select a term)
intoGenGTF2H2
Cancer3DGTF2H2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601748   
Orphanet
MedgenGTF2H2
Genetic Testing Registry GTF2H2
NextProtQ13888 [Medical]
TSGene2966
GENETestsGTF2H2
Target ValidationGTF2H2
Huge Navigator GTF2H2 [HugePedia]
snp3D : Map Gene to Disease2966
BioCentury BCIQGTF2H2
ClinGenGTF2H2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2966
Chemical/Pharm GKB GenePA29042
Clinical trialGTF2H2
Miscellaneous
canSAR (ICR)GTF2H2 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2H2
EVEXGTF2H2
GoPubMedGTF2H2
iHOPGTF2H2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:02:36 CEST 2017

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