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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

Corresponding disease	WBS Williams Beuren syndrome
Location	7q11.23      Physical location : 74.210.483 - 74.267.841
Synonym name	GTF2I repeat domain-containing protein 2A
	transcription factor GTF2IRD2
	general transcription factor II i repeat domain 2 alpha
Synonym symbol(s)	FLJ21423, GTF2I.4, GTF2IRD2A, FLJ37938, FP630, MGC75203

DNA

TYPE	functioning gene
STRUCTURE	57.36 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	TF2B recognition element, binding sites for GC and CCAAT box-binding proteins

MAPPING

cloned

Y

linked

N

status

provisional

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