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GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa [ Homo sapiens (human) ]

Gene ID: 2966, updated on 24-Aug-2015
Official Symbol
GTF2H2provided by HGNC
Official Full Name
general transcription factor IIH, polypeptide 2, 44kDaprovided by HGNC
Primary source
HGNC:HGNC:4656
See related
Ensembl:ENSG00000145736; HPRD:03450; MIM:601748; Vega:OTTHUMG00000164542
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p44; BTF2; TFIIH; BTF2P44; T-BTF2P44
Summary
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]
Orthologs
See GTF2H2 in Epigenomics, MapViewer
Location:
5q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (71035124..71067670, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70330951..70363516, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379017 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene NLR family, apoptosis inhibitory protein Neighboring gene occludin pseudogene Neighboring gene NLR family, apoptosis inhibitory protein pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of general transcription factor IIH, polypeptide 2 (GTF2H2, 44kDa) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC102806

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
translation factor activity, RNA binding TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
DNA repair TAS
Traceable Author Statement
more info
 
G-protein coupled receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
negative regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA damage removal TAS
Traceable Author Statement
more info
 
positive regulation of viral transcription TAS
Traceable Author Statement
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to UV TAS
Traceable Author Statement
more info
PubMed 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
translation TAS
Traceable Author Statement
more info
PubMed 
viral process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
core TFIIH complex IEA
Inferred from Electronic Annotation
more info
 
holo TFIIH complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
general transcription factor IIH subunit 2
Names
BTF2 p44
TFIIH basal transcription factor complex p44 subunit
basic transcription factor 2 44 kDa subunit
general transcription factor IIH polypeptide 2
general transcription factor IIH, polypeptide 2, 44kD subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001515.3NP_001506.1  general transcription factor IIH subunit 2

    See identical proteins and their annotated locations for NP_001506.1

    Status: REVIEWED

    Source sequence(s)
    AC044797, AF078847, BG283896, BM083743
    Consensus CDS
    CCDS34183.1
    UniProtKB/Swiss-Prot
    Q13888
    Related
    ENSP00000328901, OTTHUMP00000223561, ENST00000330280, OTTHUMT00000372632
    Conserved Domains (2) summary
    cd01453
    Location:56236
    vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    71035124..71067670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248489.3XP_005248546.1  

    See identical proteins and their annotated locations for XP_005248546.1

    Conserved Domains (2) summary
    cd01453
    Location:1180
    vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
    cl06838
    Location:232332
    C1_4; TFIIH C1-like domain
  2. XM_011543353.1XP_011541655.1  

    See identical proteins and their annotated locations for XP_011541655.1

    Conserved Domains (2) summary
    cl06838
    Location:152252
    C1_4; TFIIH C1-like domain
    cl00057
    Location:1119
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    583510..616049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725451.2XP_006725514.1  

    See identical proteins and their annotated locations for XP_006725514.1

    Conserved Domains (2) summary
    cd01453
    Location:1180
    vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
    cl06838
    Location:232332
    C1_4; TFIIH C1-like domain
  2. XM_011547344.1XP_011545646.1  

    See identical proteins and their annotated locations for XP_011545646.1

    Conserved Domains (2) summary
    cl06838
    Location:152252
    C1_4; TFIIH C1-like domain
    cl00057
    Location:1119
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    69782070..69814609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)