Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

GTF2H2

contributors: mct - updated : 02-04-2014

HGNC name	general transcription factor IIH, polypeptide 2, 44kDa
HGNC id	4656

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage	pre B cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a C4-type zinc finger and a ring-type zinc finger
	a VWFA domain
	N-terminus interacts with and regulates XPD
	intact C- terminus is required for a successful escape
	of RNAP II form the promoter

HOMOLOGY

interspecies	homolog to yeast S.cerevisIae Ss11p
	homolog to murine Gtf2h2

Homologene

FAMILY

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in UV resistance
	AF-1-specific coactivator of estrogen receptor
	regulating XPD by the interaction via the N terminal domain
	involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II
	protein kinase, bi-directional DNA helicase
	is a major actor of both nucleotide excision repair subpathways of which transcription-coupled repair highlights the interplay between DNA repair and transcription

CELLULAR PROCESS	nucleotide, repair, nucleotide excision repair
	nucleotide, transcription, initiation
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	subunit of RNA polymerase II transcription initiation factor IIM
	component of the core-TFIIH basal transcription factor (one of the six subunits)

INTERACTION

DNA

RNA

small molecule	metal binding,
	zinc Zn2+

protein	CAK, XPD, XPB, p62 ans P34 (TFIIH for the last two)
	ELL is a GTF2H2 partner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in SMA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS