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Aliases & Descriptionsfor GTF2H4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions general transcription factor IIH, polypeptide 4, 52kDa1 2 TFIIH basal transcription factor complex p52 subunit2 3 TFB21 2 general transcription factor IIH, polypeptide 4 (52kD subunit)1 General transcription factor IIH polypeptide 42 3 TFIIH2 Basic transcription factor 2 52 kDa subunit2 3 general transcription factor IIH subunit 42 BTF2 p522 3
Export aliases for GTF2H4 gene to outside databases Previous GC identifers: GC06U990042 GC06P030932 GC06P030646 GC06P030982 GC06P030984 GC06P030875
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Summariesfor GTF2H4 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759 Function : Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNAand, when complexed to CAK, in RNA transcription by RNA polymerase II Gene Wiki entry for GTF2H4
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Genomic Viewsfor GTF2H4 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GTF2H4 gene promoter: NF-kappaB1 STAT1beta STAT1 STAT1alpha GR-alpha NF-kappaB CUTL1 p53 c-Myb ZID Other transcription factors Search SABiosciences Chromatin IP Primers for GTF2H4 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GTF2H4
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.3 GTF2H4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06P030676: view genomic region
(about GC identifiers )
Start:
30,676,064 bp from pter
End:
30,681,967 bp from pter
Size:
5,904 bases
Orientation:
plus strand
5 alternative locations : Chr 6+,ALT_REF_LOCI_6 30,865,549-30,907,049 Chr 6+,ALT_REF_LOCI_2 30,865,832-30,910,939 Chr 6+,ALT_REF_LOCI_3 30,866,676-30,883,633 Chr 6+,ALT_REF_LOCI_4 30,843,715-30,849,618 Chr 6+,ALT_REF_LOCI_5 30,869,355-30,875,258
RefSeq DNA sequence: NC_000006.11 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1
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Proteinsfor GTF2H4 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759 (See
protein sequence )Recommended Name: General transcription factor IIH subunit 4 Size : 462 amino acids; 52186 Da
Subunit : One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complexcomposed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor
Subcellular location : NucleusExplore the universe of human proteins at neXtProt for GTF2H4: NX_Q92759
REFSEQ proteins: NP_001508.1 ENSEMBL proteins: ENSP00000422401 ENSP00000259895 ENSP00000365493 ENSP00000410160 Human Recombinant Proteins 3 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
GTF2H4 for ontologies About GeneDecksing Antibodies for GTF2H4: Assays for GTF2H4:
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Protein
Domains/ Familiesfor GTF2H4 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
GTF2H4 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q92759 ProtoNet protein and cluster: Q92759
1 Blocks protein family : IPB004598 Transcription factor Tfb2 UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759 Similarity : Belongs to the TFB2 family
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Gene Functionfor GTF2H4 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759 Function : Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNAand, when complexed to CAK, in RNA transcription by RNA polymerase II
Genatlas biochemistry entry for GTF2H4 :general transcription factor HH,polypeptide 4,52kDa,recruiting the RNA polymerase II to the DB complex,involved in both transcription and DNA repair 5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):
About this table
GTF2H4 for ontologies About GeneDecksing
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Pathways & Interactionsfor GTF2H4 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
GTF2H4 for pathways About GeneDecksing 2 Millipore Pathways for GTF2H4 5 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for GTF2H4 2 Kegg Pathways (Kegg details for GTF2H4) : SABiosciences Custom Pathway-Focused PCR Arrays for GTF2H4 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GTF2H4 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GTF2H4 5/17 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 17 ):
About this table
GTF2H4 for ontologies About GeneDecksing
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Drugs & Compoundsfor GTF2H4 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
GTF2H4 for compounds About GeneDecksing Browse Tocris compounds for GTF2H4 2 Novoseek chemical compound relationships for GTF2H4 gene
About this table
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Transcriptsfor GTF2H4 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for GTF2H4 gene: NM_001517.4
Additional cDNA sequence: AK222607.1 AK298058.1 AK300239.1 AK309869.1 BC004935.1 BC016302.2 BT007321.1 CR593757.1 CR597850.1 CR598798.1 CR606017.1 CR606652.1 CR609671.1 CR610075.1 CR619568.1 CR622991.1 Y07595.1
9 DOTS entries : DT.442849 DT.92440383 DT.99956622 DT.100787773 DT.100029918 DT.102827221 DT.92440381 DT.95147943
DT.99968525 24/258 AceView cDNA sequences (see all 258 ):
BX370729 BQ212016 AL559731 BU740782 BE395901 BI912530 AA761609 BQ776843 CB130836 BC016302 CR619568 CR598798 BQ055545 AI083838 CB528330 N92835 BM713660 AI744011 BF515363 BU183016 AW574540 CD611909 BE389829 BU179030
highest scoring ESTs for GTF2H4 :Y07595 AA001980 AA099183 AA113209 AA251093 AA447625 AA761609 AA810058 AA913583 AI016433 Unigene Cluster for GTF2H4:
General transcription factor IIH, polypeptide 4, 52kDa Hs.485070 [show with all ESTs ] Unigene Representative Sequence: NM_001517 GeneLoc Exon Structure 7 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000506145 ENST00000259895 (uc010jsf.2 uc011dmw.1 ) ENST00000376316 ENST00000487746 (uc011dmv.1 ) ENST00000475845 ENST00000453897 ENST00000483318
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Expression for GTF2H4 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section GTF2H4 expression in normal and diseased human tissues 1 / 2 / 3
3 probe-sets matching GTF2H4 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
41371_at2 , 3
U95-A
5
1.00
0.70
1.00
1.00
Y07595
1.00
0.80
0.91
1
203577_at2 , 3
U133-A
5
1.00
0.78
--
--
NM_001517
0.60
0.83
0.73
1
203577_at2
U133Plus2
5
1.00
0.78
--
--
--
--
--
--
--
About this table
GTF2H4 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGGTGACCC SOURCE GeneReport for Unigene cluster: Hs.485070 Expression variation in blood from EXPOLDB for GTF2H4
SABiosciences Custom PCR Arrays for GTF2H4
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Orthologsfor GTF2H4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for GTF2H4 gene from 5/20 species (see all 20 )
About this table Species with no ortholog for GTF2H4 ENSEMBL Gene Tree for GTF2H4 (if available)
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Paralogsfor GTF2H4 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section --
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Genomic Variantsfor GTF2H4 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 6 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for GTF2H4 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for GTF2H4: --
QIAGEN SeqTarget long-range PCR primers for resequencing GTF2H4
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Disorders & Mutationsfor GTF2H4 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
GTF2H4 for disorders About GeneDecksing
OMIM: 601760 Human Genome Epidemiology (HuGE) Navigator: GTF2H4 (3 documents) Export disorders and mutations for GTF2H4 gene to outside databases
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Medical Newsfor GTF2H4 gene (Possibly Related Articles in
Doctor's Guide )
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Publicationsfor GTF2H4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/77 PubMed articles for GTF2H4 gene, integrated from 7 sources (see all 77 ): (articles sorted by number of sources associating them with GTF2H4) Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. (PubMed id 9118947) 1 , 2 , 3 Marinoni J.-C.... Egly J.-M. (1997) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PubMed id 9852112) 1 , 2 Kershnar E.... Chiang C.-M. (1998) Alleviation of PC4-mediated transcriptional repression by the ERCC3 helicase activity of general transcription factor TFIIH. (PubMed id 12590132) 1 , 7 Fukuda A....Hisatake K. (2003) Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. (PubMed id 8692842) 1 , 7 Drapkin R....Reinberg D. (1996) Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537) 1 Briggs F.B....Barcellos L.F. (2010) Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610) 1 Ucisik-Akkaya E....Tevfik Dorak M. (2010) New clinico-genetic classification of trichothiodystr ophy. (PubMed id 19681155) 1 Morice-Picard F....TaA^eb A. (2009) High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445) 1 Barcellos L.F....Criswell L.A. (2009) TFB2 is a transient component of the catalytic site o f the human mitochondrial RNA polymerase. (PubMed id 19945377) 1 Sologub M....Temiakov D. (2009)
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External Searches for GTF2H4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing GTF2H4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing GTF2H4 gene
(According to HUGE )
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Specialized Databases showing GTF2H4 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for GTF2H4 gene: Search GeneIP for patents involving GTF2H4 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor GTF2H4 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for GTF2H4
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