GenAge entry for GTF2H2 (Homo sapiens)

Gene name (HAGRID: 111)

HGNC symbol
GTF2H2 
Aliases
BTF2; TFIIH; BTF2P44; T-BTF2P44; p44 
Common name
general transcription factor IIH, polypeptide 2, 44kDa 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence showing that the gene product to be a target of genes previously linked to ageing
Description

GTF2H2 is a component of the core TFIIH basal transcription factor that is involved in DNA repair and transcription [954]. The association of TFIIH with some ageing-related genes, such as ERCC2 [955], suggests GTF2H2 may also play a role in ageing, though further studies are needed to investigate this hypothesis.

Cytogenetic information

Cytogenetic band
5q13.2
Location
70,415,374 bp to 70,447,906 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000717; nucleotide-excision repair, DNA duplex unwinding
GO:0002031; G-protein coupled receptor internalization
GO:0006283; transcription-coupled nucleotide-excision repair
GO:0006289; nucleotide-excision repair
GO:0006293; nucleotide-excision repair, preincision complex stabilization
GO:0006294; nucleotide-excision repair, preincision complex assembly
GO:0006295; nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296; nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006357; regulation of transcription from RNA polymerase II promoter
GO:0006361; transcription initiation from RNA polymerase I promoter
GO:0006362; transcription elongation from RNA polymerase I promoter
And 11 more GO terms
Cellular component: GO:0000438; core TFIIH complex portion of holo TFIIH complex
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005669; transcription factor TFIID complex
GO:0005675; holo TFIIH complex
Function: GO:0003676; nucleic acid binding
GO:0003700; transcription factor activity, sequence-specific DNA binding
GO:0004672; protein kinase activity
GO:0005515; protein binding
GO:0008094; DNA-dependent ATPase activity
GO:0008135; translation factor activity, RNA binding
GO:0008270; zinc ion binding
GO:0008353; RNA polymerase II carboxy-terminal domain kinase activity
GO:0047485; protein N-terminus binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
ERCC2, ERCC8, ERCC3, AR, CDK7
STRING interaction network
Protein-Protein network diagram for GTF2H2

Retrieve sequences for GTF2H2

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
T16H12.4
Danio rerio
gtf2h2
Drosophila melanogaster
Ssl1
Mus musculus
Gtf2h2
Rattus norvegicus
Gtf2h2
Saccharomyces cerevisiae
SSL1

Selected references

External links

EPD
ORF Accession
NM_001515
CDS Accession
NP_001506
OMIM
601748
HPRD
03450
Ensembl
GTF2H2
UniProt/Swiss-Prot
TF2H2_HUMAN
GeneCards
GTF2H2
Entrez Gene
2966
GenAtlas
GTF2H2
Internet
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