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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

Location	5q13.1      Physical location : 70.330.952 - 70.363.497
Synonym name	general (basal) transcription factor IIH, p44 subunit
Synonym symbol(s)	BTF2HT, BTF2P44, BTF2,TFIIH

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	in the SMN telomeric cluster
STRUCTURE	32.00 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	a number of isoforms maybe produced by incomplete gene duplication and alternative splicing

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