Protein Gtf2h2

URN	urn:agi-llid:2966
Connectivity	1
Name	Gtf2h2
Description	general transcription factor IIH, polypeptide 2, 44kDa
Notes	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]

Pathway	nucleotide excision repair pathway

GO Molecular Function	nucleic acid binding
	transcription factor activity
	protein N-terminus binding
	translation factor activity, nucleic acid binding
	metal ion binding
	zinc ion binding
	protein kinase activity
	RNA polymerase II carboxy-terminal domain kinase activity
	DNA-dependent ATPase activity

GO Biological Process	regulation of transcription
	G-protein coupled receptor internalization
	transcription
	transcription from RNA polymerase II promoter
	DNA repair
	RNA elongation from RNA polymerase II promoter
	nucleotide-excision repair, DNA damage removal
	response to DNA damage stimulus
	response to UV
	transcription initiation from RNA polymerase II promoter

Ariadne Ontology	Polymerase II transcription

Group	Polymerase II transcription
	regulation of transcription
	G-protein coupled receptor internalization
	transcription
	transcription from RNA polymerase II promoter
	DNA repair
	RNA elongation from RNA polymerase II promoter
	nucleotide-excision repair, DNA damage removal
	response to DNA damage stimulus
	response to UV
	transcription initiation from RNA polymerase II promoter
	nucleic acid binding
	transcription factor activity
	protein N-terminus binding
	translation factor activity, nucleic acid binding
	metal ion binding
	zinc ion binding
	protein kinase activity
	RNA polymerase II carboxy-terminal domain kinase activity
	DNA-dependent ATPase activity
	intracellular
	nucleoplasm
	holo TFIIH complex
	nucleus

MedScan ID	2966

Hugo ID	4656

Human chromosome position	5q12.2-q13.3

Alias	BTF2
	TFIIH
	BTF2P44
	MGC102806
	T-BTF2P44
	general transcription factor IIH subunit 2
	BTF2 p44
	basic transcription factor 2 44 kDa subunit
	general transcription factor IIH polypeptide 2
	TFIIH basal transcription factor complex p44 subunit
	general transcription factor IIH, polypeptide 2, 44kD subunit
	p44
	44kDa
	BTF2-p44
	OTTMUSP00000026943
	basal transcription factor 2, p44 subunit
	general transcription factor IIH, polypeptide 2 (44 kDa subunit)
	general transcription factor II H, polypeptide 2 (44 kDa subunit)
	44 kDa subunit
	factor II H, 44kDa
	general transcription factor II H, polypeptide 2
	general transcription factor II H, polypeptide II
	General transcription factor IIH polypeptide II
	general transcription factor IIH, polypeptide 2 (44kD subunit)
	general transcription factor IIH, polypeptide 2, 44kDa
	Gtf2h2
	TFII-H 44kDa

OMIM ID	601748

Mouse chromosome position	13 55.9 cM

Rat chromosome position	2q12

PIR ID	S44454

Cell Localization	Nucleus

Homologene ID	1159

RGD ID	1310499

MGI ID	1345669