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GTF2H2

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GENERAL INFORMATION

Gene name

 GTF2H2

Gene description

 General transcription factor IIH, polypeptide 2, 44kDa

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nuclear speckles. Caution: Based on antibodies targeting proteins from multiple genes.

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nuclear speckles (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA047001
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nuclear speckles. Caution: Based on antibodies targeting proteins from multiple genes.

Main location

 Nuclear speckles (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA047001 MCF7 No staining    
HPA047001 U-2 OS No staining    
HPA047001 U-251 MG Nuclear speckles

GENE INFORMATION

Gene name

 GTF2H2 (HGNC Symbol)

Synonyms

 BTF2, BTF2P44, p44, T-BTF2P44, TFIIH

Description

 General transcription factor IIH, polypeptide 2, 44kDa (HGNC Symbol)

Entrez gene 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]

Chromosome

 5

Cytoband

 q13.2

Chromosome location (bp)

 71032670 - 71067689

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000145736 (version 83.38)

Entrez gene

 2966

UniProt

 Q13888 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13888

Antibodypedia

 GTF2H2 antibodies

PROTEIN BROWSER
GTF2H2-001
GTF2H2-003
GTF2H2-016
GTF2H2-022

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GTF2H2-001
ENSP00000274400
ENST00000274400
Q13888 [Direct mapping]
General transcription factor IIH subunit 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000439 [core TFIIH complex]
GO:0002031 [G-protein coupled receptor internalization]
GO:0003676 [nucleic acid binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004672 [protein kinase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005675 [holo TFIIH complex]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006360 [transcription from RNA polymerase I promoter]
GO:0006361 [transcription initiation from RNA polymerase I promoter]
GO:0006362 [transcription elongation from RNA polymerase I promoter]
GO:0006363 [termination of RNA polymerase I transcription]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006368 [transcription elongation from RNA polymerase II promoter]
GO:0006370 [7-methylguanosine mRNA capping]
GO:0006412 [translation]
GO:0006468 [protein phosphorylation]
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:0009411 [response to UV]
GO:0010467 [gene expression]
GO:0016032 [viral process]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0050434 [positive regulation of viral transcription]
GO:0070911 [global genome nucleotide-excision repair]
Show all
 395 aa
44.4 kDa 		No 0
GTF2H2-003
ENSP00000328901
ENST00000330280
Q13888 [Direct mapping]
General transcription factor IIH subunit 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000439 [core TFIIH complex]
GO:0002031 [G-protein coupled receptor internalization]
GO:0003676 [nucleic acid binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004672 [protein kinase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005675 [holo TFIIH complex]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006360 [transcription from RNA polymerase I promoter]
GO:0006361 [transcription initiation from RNA polymerase I promoter]
GO:0006362 [transcription elongation from RNA polymerase I promoter]
GO:0006363 [termination of RNA polymerase I transcription]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006368 [transcription elongation from RNA polymerase II promoter]
GO:0006370 [7-methylguanosine mRNA capping]
GO:0006412 [translation]
GO:0006468 [protein phosphorylation]
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:0009411 [response to UV]
GO:0010467 [gene expression]
GO:0016032 [viral process]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0050434 [positive regulation of viral transcription]
GO:0070911 [global genome nucleotide-excision repair]
Show all
 395 aa
44.4 kDa 		No 0
GTF2H2-016
ENSP00000429057
ENST00000517900
D6RGC9 [Direct mapping]
General transcription factor IIH subunit 2; General transcription factor IIH subunit 2-like protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000439 [core TFIIH complex]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
Show all
 123 aa
14.5 kDa 		No 0
GTF2H2-022
ENSP00000473362
ENST00000521602
R4GMV2 [Direct mapping]
General transcription factor IIH subunit 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 23 aa
2.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.