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FLASH GENE

Symbol

GTF2IRD2

contributors: mct/npt - updated : 20-01-2010

HGNC name	GTF2I repeat domain containing 2
HGNC id	30775

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173537 16 - 3551 NP_775808 107.1 949 - Makeyev (2004)

EXPRESSION

Type

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 Digestive mouth tooth

cells

System Cell Pubmed Species Stage Rna symbol Digestive odontoblast

cell lineage

cell lines

fluid/secretion

at STAGE

Text	in the epithelial buds

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two GTF2I-like repeats containing helix-loop-helix motifs
	an unusual C-terminal CHARLIE8 transposon-like domain, thought to have arisen as a consequence of the random insertion of a transposable element generating a functional fusion gene
	two leucine zippers
	a single Cys-2/His-2 zinc finger

HOMOLOGY

interspecies

ortholog to murine Gtf2ird1

Homologene

FAMILY

TFII-I family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	playing a role in the pathogenesis of Williams-Beuren syndrome
	may be playing a role in promoting the unequal homologous recombination events underlying the WBS deletion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WBS

Susceptibility

Variant & Polymorphism

Candidate gene	for higher-level (executive functioning) abilities,
Marker
Therapy target

ANIMAL & CELL MODELS