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Aliases for GTF2H2 Gene

Aliases for GTF2H2 Gene

  • General Transcription Factor IIH, Polypeptide 2, 44kDa 2 3
  • TFIIH Basal Transcription Factor Complex P44 Subunit 3 4
  • General Transcription Factor IIH Polypeptide 2 3 4
  • Basic Transcription Factor 2 44 KDa Subunit 3 4
  • BTF2 P44 3 4
  • BTF2P44 3 4
  • General Transcription Factor IIH, Polypeptide 2 (44kD Subunit) 2
  • General Transcription Factor IIH, Polypeptide 2, 44kD Subunit 3
  • General Transcription Factor IIH Subunit 2 3
  • T-BTF2P44 3
  • TFIIH 3
  • BTF2 3
  • P44 3

External Ids for GTF2H2 Gene

Summaries for GTF2H2 Gene

Entrez Gene Summary for GTF2H2 Gene

  • This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation 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 been determined. A second copy of this gene within the centromeric copy of the duplication has been described 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for GTF2H2 Gene

GTF2H2 (General Transcription Factor IIH, Polypeptide 2, 44kDa) is a Protein Coding gene. Diseases associated with GTF2H2 include muscular atrophy and seminoma. Among its related pathways are Disease and GPCR Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein kinase activity. An important paralog of this gene is GTF2H2C.

UniProtKB/Swiss-Prot for GTF2H2 Gene

  • Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter

Gene Wiki entry for GTF2H2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H2 Gene

Genomics for GTF2H2 Gene

Genomic Location for GTF2H2 Gene

Start:
71,034,957 bp from pter
End:
71,067,689 bp from pter
Size:
32,733 bases
Orientation:
Minus strand

Genomic View for GTF2H2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GTF2H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H2 Gene

Regulatory Elements for GTF2H2 Gene

Proteins for GTF2H2 Gene

  • Protein details for GTF2H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13888-TF2H2_HUMAN
    Recommended name:
    General transcription factor IIH subunit 2
    Protein Accession:
    Q13888
    Secondary Accessions:
    • Q15570
    • Q15571
    • Q9BS41

    Protein attributes for GTF2H2 Gene

    Size:
    395 amino acids
    Molecular mass:
    44419 Da
    Quaternary structure:
    • One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with XPB, XPD, GTF2H1 and GTF2H3. Interacts with varicella-zoster virus IE63 protein.

    Three dimensional structures from OCA and Proteopedia for GTF2H2 Gene

    Alternative splice isoforms for GTF2H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H2 Gene

Proteomics data for GTF2H2 Gene at MOPED

Post-translational modifications for GTF2H2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys23 and Lys116

Other Protein References for GTF2H2 Gene

No data available for DME Specific Peptides for GTF2H2 Gene

Domains for GTF2H2 Gene

Gene Families for GTF2H2 Gene

HGNC:
  • TFIIH :General transcription factor IIH complex subunits
  • GTF :General transcription factors

Protein Domains for GTF2H2 Gene

UniProtKB/Swiss-Prot:

TF2H2_HUMAN
Domain:
  • Contains 1 VWFA domain.:
    • Q13888
Family:
  • Belongs to the GTF2H2 family.:
    • Q13888
genes like me logo Genes that share domains with GTF2H2: view

Function for GTF2H2 Gene

Molecular function for GTF2H2 Gene

UniProtKB/Swiss-Prot Function: Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter

Gene Ontology (GO) - Molecular Function for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 8194529
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 8194529
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 11445587
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
genes like me logo Genes that share ontologies with GTF2H2: view

miRNA for GTF2H2 Gene

miRTarBase miRNAs that target GTF2H2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for GTF2H2 Gene

Localization for GTF2H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2H2 Gene COMPARTMENTS Subcellular localization image for GTF2H2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex IDA 9852112
genes like me logo Genes that share ontologies with GTF2H2: view

Pathways for GTF2H2 Gene

SuperPathways for GTF2H2 Gene

Superpath Contained pathways
1 Formation of RNA Pol II elongation complex
2 Assembly of RNA Polymerase-II Initiation Complex
3 DNA Repair
4 Global Genomic NER (GG-NER)
5 RNA Polymerase I Promoter Opening
genes like me logo Genes that share pathways with GTF2H2: view

Gene Ontology (GO) - Biological Process for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0002031 G-protein coupled receptor internalization IMP 15775968
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with GTF2H2: view

Compounds for GTF2H2 Gene

(3) Novoseek inferred chemical compound relationships for GTF2H2 Gene

Compound -log(P) Hits PubMed IDs
zinc 2.43 2
atp 0 2
cisplatin 0 1
genes like me logo Genes that share compounds with GTF2H2: view

Transcripts for GTF2H2 Gene

Unigene Clusters for GTF2H2 Gene

General transcription factor IIH, polypeptide 2, 44kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H2 Gene

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: - -
SP6:
SP7:
SP8: -

Relevant External Links for GTF2H2 Gene

GeneLoc Exon Structure for
GTF2H2
ECgene alternative splicing isoforms for
GTF2H2

Expression for GTF2H2 Gene

mRNA expression in normal human tissues for GTF2H2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GTF2H2 Gene

SOURCE GeneReport for Unigene cluster for GTF2H2 Gene Hs.607501

mRNA Expression by UniProt/SwissProt for GTF2H2 Gene

Q13888-TF2H2_HUMAN
Tissue specificity: Widely expressed, with higher expression in skeletal muscle
genes like me logo Genes that share expressions with GTF2H2: view

Orthologs for GTF2H2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GTF2H2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H2 36
  • 99.24 (n)
  • 99.49 (a)
GTF2H2 37
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GTF2H2 36
  • 93 (n)
  • 97.22 (a)
GTF2H2 37
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 97 (a)
OneToMany
GTF2H2 36
  • 91.98 (n)
  • 98.23 (a)
mouse
(Mus musculus)
Mammalia Gtf2h2 36
  • 90.72 (n)
  • 97.22 (a)
Gtf2h2 16
Gtf2h2 37
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 88 (a)
ManyToMany
-- 37
  • 94 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gtf2h2 36
  • 88.1 (n)
  • 96.71 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 88 (a)
OneToMany
GTF2H2 36
  • 79.07 (n)
  • 88.35 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h2 36
  • 76.02 (n)
  • 84.18 (a)
Str.6606 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4755 36
zebrafish
(Danio rerio)
Actinopterygii Dr.1630 36
gtf2h2 36
  • 72.18 (n)
  • 82.43 (a)
gtf2h2 37
  • 82 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010559 36
  • 53.49 (n)
  • 53.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ssl1 36
  • 53.06 (n)
  • 53.06 (a)
Ssl1 37
  • 47 (a)
OneToMany
Ssl1 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_T16H12.4 36
  • 52.47 (n)
  • 45.28 (a)
T16H12.4 37
  • 43 (a)
OneToMany
T16H12.4 38
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR338C 36
  • 46.36 (n)
  • 41.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL1 36
  • 49.18 (n)
  • 42.08 (a)
SSL1 37
  • 33 (a)
OneToMany
SSL1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09615g 36
  • 51.51 (n)
  • 44.11 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GTF2H2 36
  • 49.29 (n)
  • 45.99 (a)
rice
(Oryza sativa)
Liliopsida Os04g0508900 36
  • 50.99 (n)
  • 43.71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01831 36
  • 46.09 (n)
  • 42.9 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ssl1 36
  • 49.58 (n)
  • 42.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 52 (a)
OneToMany
Species with no ortholog for GTF2H2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTF2H2 Gene

ENSEMBL:
Gene Tree for GTF2H2 (if available)
TreeFam:
Gene Tree for GTF2H2 (if available)

Paralogs for GTF2H2 Gene

Paralogs for GTF2H2 Gene

Selected SIMAP similar genes for GTF2H2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GTF2H2 Gene

genes like me logo Genes that share paralogs with GTF2H2: view

Variants for GTF2H2 Gene

Sequence variations from dbSNP and Humsavar for GTF2H2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs199781191 -- 71,042,194(+) TTACA(C/T)TCAAC synonymous-codon, reference
rs199999389 -- 71,049,076(+) GATTA(A/G)ATCAT reference, synonymous-codon
rs200357275 -- 71,055,369(+) ATAGC(C/T)ATGCT reference, missense
rs201102513 -- 71,048,057(+) ACTAA(C/G)ATGAT missense, reference
VAR_011664 -

Structural Variations from Database of Genomic Variants (DGV) for GTF2H2 Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
dgv6086n71 CNV Gain 21882294
nsv10707 CNV Gain+Loss 18304495
esv22113 CNV Gain+Loss 19812545
dgv1805e1 CNV Complex 17122850
dgv1806e1 CNV Complex 17122850
esv32787 CNV Gain+Loss 17666407
dgv1807e1 CNV Complex 17122850
nsv7371 OTHER Inversion 18451855
nsv881986 CNV Gain 21882294
dgv6135n71 CNV Loss 21882294
nsv882003 CNV Gain 21882294
dgv6136n71 CNV Loss 21882294
dgv6137n71 CNV Loss 21882294
dgv1808e1 CNV Complex 17122850
dgv6141n71 CNV Gain 21882294
dgv6142n71 CNV Gain 21882294
nsv882034 CNV Loss 21882294
dgv6143n71 CNV Gain+Loss 21882294
dgv6147n71 CNV Gain 21882294
dgv6148n71 CNV Loss 21882294
dgv6149n71 CNV Loss 21882294
dgv6152n71 CNV Loss 21882294
dgv6153n71 CNV Gain 21882294
nsv830339 CNV Gain 17160897
dgv6156n71 CNV Gain+Loss 21882294
dgv6157n71 CNV Gain+Loss 21882294
dgv1809e1 CNV Complex 17122850
dgv1810e1 CNV Complex 17122850
dgv6159n71 CNV Gain 21882294
dgv6160n71 CNV Gain 21882294
nsv882112 CNV Gain 21882294
nsv882115 CNV Loss 21882294
dgv6161n71 CNV Gain+Loss 21882294
nsv882118 CNV Loss 21882294
dgv6162n71 CNV Loss 21882294
dgv6163n71 CNV Loss 21882294
dgv6164n71 CNV Gain 21882294
dgv27n14 CNV Loss 18776910
dgv6165n71 CNV Gain+Loss 21882294
nsv882135 CNV Gain 21882294
dgv6166n71 CNV Loss 21882294
nsv433373 CNV Gain 18776910
esv2673843 CNV Deletion 23128226
dgv6167n71 CNV Gain+Loss 21882294
esv1011240 CNV Gain 20482838
nsv511290 CNV Gain 21212237
nsv515025 CNV Complex 21397061
dgv6168n71 CNV Loss 21882294
dgv6169n71 CNV Gain+Loss 21882294
dgv6170n71 CNV Loss 21882294
nsv882151 CNV Gain 21882294
nsv511107 CNV Complex 20534489

Relevant External Links for GTF2H2 Gene

HapMap Linkage Disequilibrium report
GTF2H2

Disorders for GTF2H2 Gene

(1) University of Copenhagen DISEASES for GTF2H2 Gene

(5) Novoseek inferred disease relationships for GTF2H2 Gene

Disease -log(P) Hits PubMed IDs
muscular atrophy spinal 78.5 3
werdnig-hoffmann disease 63.9 1
cockayne syndrome 61.9 1
xeroderma pigmentosum 54.7 1
genetic disorder 23 2

Relevant External Links for GTF2H2

Genetic Association Database (GAD)
GTF2H2
Human Genome Epidemiology (HuGE) Navigator
GTF2H2
genes like me logo Genes that share disorders with GTF2H2: view

No data available for UniProtKB/Swiss-Prot for GTF2H2 Gene

Publications for GTF2H2 Gene

  1. p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. (PMID: 8194529) Humbert S. … Moncollin V. (EMBO J. 1994) 2 3 4 23
  2. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. (PMID: 9063743) Carter T.A. … Gilliam T.C. (Hum. Mol. Genet. 1997) 3 4 23
  3. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. (PMID: 19154529) Arkblad E. … Darin N. (Acta Paediatr. 2009) 3 23 49
  4. 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. (PMID: 9852112) Kershnar E. … Chiang C.-M. (J. Biol. Chem. 1998) 3 4
  5. A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH. (PMID: 11319235) Tremeau-Bravard A. … Egly J.-M. (J. Biol. Chem. 2001) 3 4

Products for GTF2H2 Gene

Sources for GTF2H2 Gene

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