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Aliases & Descriptions for GTF2H2
(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
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Aliases BTF2 1 , 2 BTF2-p44 3 BTF2P44 1 , 2 , 3 MGC102806 2 T-BTF2P44 1 , 2 TFIIH 1 , 2
Descriptions Basic transcription factor 2 44 kDa subunit 3 General transcription factor IIH polypeptide 2 3 TFIIH basal transcription factor complex p44 subunit 3 general transcription factor IIH, polypeptide 2 (44kD subunit) 1 , 2 general transcription factor IIH, polypeptide 2, 44kD subunit 2 general transcription factor IIH, polypeptide 2, 44kDa 2
Search outside databases for aliases for GTF2H2 genePrevious GC identifers: GC05P069008 GC05P070422 GC05P068962
Summaries for GTF2H2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for GTF2H2 : This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated regioncontains at least four genes and repetitive elements which make it prone to rearrangements anddeletions. The repetitiveness and complexity of the sequence have also caused difficulty indetermining the organization of this genomic region. This gene is within the telomeric copy of theduplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene inspinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes tothe SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcriptioninitiation factor IIH which is involved in basal transcription and nucleotide excision repair.Transcript variants for this gene have been described, but their full length nature has not beendetermined. A second copy of this gene within the centromeric copy of the duplication has beendescribed in the literature. It is reported to be different by either two or four base pairs;however, no sequence data is currently available for the centromeric copy of the gene. [providedby RefSeq] UniProtKB/Swiss-Prot: TF2H2_HUMAN, Q13888 Function : Component of the core-TFIIH basal transcription factor involved in nucleotide excisionrepair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. TheN-terminus interacts with and regulates XPD whereas an intact C-terminus is required for asuccessful escape of RNAP II form the promoter
Gene Wiki entry for GTF2H2
Genomic Location for GTF2H2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the GTF2H2 gene Entrez Gene cytogenetic band: 5q12.2-q13.3 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13.2 GTF2H2 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 5 GeneLoc Exon Structure
GeneLoc location for GC05M070366:
(about GC identifiers )
Start:
70,366,707 bp from pter
End:
70,399,253 bp from pter
Size:
32,547 bases
Orientation:
minus strand
1 alternative location : Chr 5+,c5_H2 69,315,938-69,348,477
RefSeq DNA sequence: NC_000005.8 NT_006713.14 NT_113801.1 Proteins for GTF2H2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TF2H2_HUMAN, Q13888 (See
protein sequence )Recommended Name: General transcription factor IIH subunit 2 Size : 395 amino acids; 44419 Da
Subunit : One of the six subunits forming the core-TFIIH basal transcription factor. Interacts withXPB, XPD, GTF2H1 and GTF2H3
Subcellular location : Nucleus
PDB structures from and Proteopedia : 1Z60 (3D)
 
Secondary accessions : Q15570 Q15571 Q9BS41Alternative splicing : 1 isoform : Q13888-1 (A number of isoforms may be produced. The isoforms may be also produced by incomplete gene duplication)
REFSEQ proteins: NP_001506.1 ENSEMBL proteins: ENSP00000328901 ENSP00000274400 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for GTF2H2: Assays for GTF2H2:
Protein
Domains/ Families for GTF2H2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13888 ProtoNet protein and cluster: Q13888
2 Blocks protein families : IPB001841 Zn-finger IPB007198 Ssl1-like UniProtKB/Swiss-Prot: TF2H2_HUMAN, Q13888 Similarity : Belongs to the GTF2H2 familySimilarity : Contains 1 VWFA domain
Gene Function for GTF2H2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
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Clones , and
Q-PCR Products
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siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001515 Applied Biosystems Silencer ® siRNAs for GTF2H2 Sigma-Aldrich siRNA for GTF2H2 Sigma-Aldrich shRNA Panels and shRNA for GTF2H2 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001515                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001515                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001515  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001515 UniProtKB/Swiss-Prot: TF2H2_HUMAN, Q13888 Function : Component of the core-TFIIH basal transcription factor involved in nucleotide excisionrepair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. TheN-terminus interacts with and regulates XPD whereas an intact C-terminus is required for asuccessful escape of RNAP II form the promoter
5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for GTF2H2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for GTF2H2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for GTF2H2 2 Interacting proteins for GTF2H2 (ENSP00000274400 3 Q13888 1 ) via UniProtKB, MINT, and/or STRING About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for GTF2H2 (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 )
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Browse Tocris compounds for GTF2H2 2 Novoseek chemical compound relationships for GTF2H2 gene
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Transcripts for GTF2H2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
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 Invitrogen ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001515 Sigma-Aldrich siRNA for GTF2H2 Sigma-Aldrich shRNA Panels and shRNA for GTF2H2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001515
REFSEQ mRNAs for GTF2H2 gene: NM_001515.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001515
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001515                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001515                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001515  
Additional cDNA sequence: AF078847.1 AF086359.1 AK296578.1 BC005345.1 BT006773.1 BX537982.1 BX647532.1 DQ786268.1 U21910.1 U21915.1 Z30094.1
24/31 DOTS entries (see all 31
): DT.102840497 DT.95199285 DT.120845171 DT.413008 DT.120845156 DT.429771 DT.100822315 DT.100822322 DT.120845041 DT.214322 DT.75143754 DT.100026778 DT.120845251 DT.427316 DT.91719169 DT.100822319 DT.100822320 DT.100822324 DT.100822329 DT.100822331 DT.120845005 DT.97844340 DT.100730076 DT.100822316
24/273 AceView cDNA sequences (see all 273
):AA989156 BQ918368 BM768623 AA677890 AI056697 AA678043 AA829390 AW592525 BM462360 BQ030091 BG169070 AI205195 BX279649 W76286 CF541411 AA306816 AI159978 AI472627 AA639150 AA449941 AA716448 AA353355 N72406 AA293389
highest scoring ESTs for GTF2H2 :CN273403 AA203547 AI434311 AI933976 AK093949 AK123868 AL711387 AX748379 BE967510 BF802059
Unigene Cluster for GTF2H2: General transcription factor IIH, polypeptide 2, 44kDa Hs.655216 [show with all ESTs ] Unigene Representative Sequence: BX647532 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H2 (see all 8
) ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 SP1 :                                   -       -       SP2 :                         -                       SP3 :               -                                 SP4 :                                               SP5 :                       -   -                      
About this scheme ECgene alternative splicing isoforms for GTF2H2 2 Ensembl transcripts including schematic representations : ENST00000330280
ENST00000274400
Expression for GTF2H2
(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 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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GTF2H2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for GTF2H2 1 / 2 / 3
8 probe-sets matching GTF2H2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.655216 UniProtKB/Swiss-Prot: TF2H2_HUMAN, Q13888 Tissue specificity : Widely expressed, with higher expression in skeletal muscle
Orthologs for GTF2H2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for GTF2H2 gene from 5/19 species (see all 19
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
GTF2H21
--
general transcription factor IIH, polypeptide 2, 44kDa
91.98(n) 98.23(a)
478089 XM_535266.2 XP_535266.2
chimpanzee (Pan troglodytes)
GTF2H21
--
general transcription factor IIH, polypeptide 2, 44kDa
99.24(n) 99.49(a)
461830 XM_001157963.1 XP_001157963.1
cow (Bos taurus)
GTF2H21
--
general transcription factor IIH, polypeptide 2, 44kDa
93(n) 97.22(a)
511829 NM_001038530.1 NP_001033619.1
rat (Rattus norvegicus)
Gtf2h21
--
general transcription factor IIH, polypeptide 2
88.1(n) 96.71(a)
294693 XM_215466.4 XP_215466.2
mouse (Mus musculus)
Gtf2h21 , 5
13 (55.90 cM) 5
general transcription factor II H, polypeptide 21, 5
90.55(n) 1 96.96(a) 1
23894 1 NM_022011.3 1 NP_071294.2 1 AA183802 5 AB221674 5 (see all 22 )
About this table Species with no ortholog for GTF2H2 ENSEMBL Gene Tree for GTF2H2 Paralogs for GTF2H2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for GTF2H2 gene GTF2H2B 2
SNPs/Variants for GTF2H2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for GTF2H2 (up to first 250kb)
Disorders & Mutations for GTF2H2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601748 5 Novoseek disease relationships for GTF2H2 gene
About this table Human Genome Epidemiology Navigator: GTF2H2 (1 document)
Medical News for GTF2H2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for GTF2H2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/113 PubMed articles for GTF2H2 gene (see all 113
): p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. (PubMed id 8194529) 1, 2, 3, 4 Humbert S....Moncollin V. (1994) A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. (PubMed id 9063743) 1, 3, 4 Carter T.A.... Gilliam T.C. (1997) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH. (PubMed id 11319235) 3, 4 Tremeau-Bravard A.... Egly J.-M. (2001) Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. (PubMed id 9503025) 3, 4 Chen Q....MacKenzie A.E. (1998) A provisional transcript map of the spinal muscular atrophy (SMA) critical region. (PubMed id 7552146) 3, 4 van der Steege G.... Buys C.H.C.M. (1995) Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH. (PubMed id 9130708) 1, 3 Rossignol M....Egly J.M. (1997) Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. (PubMed id 8652557) 1, 3 Iyer N....Friedberg E.C. (1996) Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. (PubMed id 8692841) 1, 3 Reardon J.T....Pan Z.Q. (1996) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. (PubMed id 8981949) 1, 3 Burglen L....Melki J. (1997)
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Genome Databases showing GTF2H2
(According to
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HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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(According to HUGE )
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--
Specialized Databases showing GTF2H2 (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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-- Services for GTF2H2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for GTF2H2:
Search Tocris compounds for GTF2H2
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Aliases for GTF2H2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009