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FLASH GENE

Symbol

GATA5

contributors: mct - updated : 28-02-2017

HGNC name	GATA binding protein 5
HGNC id	15802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	20q13.33      Physical location : 61.038.552 - 61.051.026
Synonym name	transcription factor GATA-5
Synonym symbol(s)	bB379O24.1

DNA

TYPE	functioning gene
STRUCTURE	12.47 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_080473 7 - 2595 NP_536721 41.2 397 - 2000 11042222

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 intestine small intestine         stomach         Respiratory lung         Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	heart, lung, urogenital ridge, bladder, gut

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DNA binding domain of two zinc finger motifs of a distinctive form CXNCX(17)CNXC
	two adjacent stretches of basic aminoacids

HOMOLOGY

Homologene

FAMILY

GATA zinc finger transcription factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	GATA4/5 exhibit tumor suppressive effects in colorectal cancer cells
	role during cardiac development and functional redundancy between GATA4 and GATA5
	potential genetic modifier of congenital heart disease
	GATA4, GATA45, GATA6 are indispensable for the lineage-specific development and differentiation of cells of endodermal and mesodermal origin
	involved in the transcriptional regulation of VEGFA expression

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA

a component

INTERACTION

DNA	binding to GATA sequence

RNA

small molecule

protein	associating with HNF1 alpha and coactivating lactase-phlorizin hydrolase promoter
	interacts with GATA4 and GATA6 in outflow tract development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function epigenetic inactivation by methylation of CpG islands is an early frequent event during gastric carcinogenesis significantly correlated with H. pylori infection tumoral     --low   promoter hypermethylation may be an important mechanism of the transcriptional inactivation of ARRDC3, GATA5, and ELP3 in invasive ductal carcinomas (IDCs)

Susceptibility

to atrioventricular septal defects

Variant & Polymorphism

Candidate gene	candidate modifier gene for congenital heart disease
Marker
Therapy target

ANIMAL & CELL MODELS

	Gata4(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV), large ventricular septal defects (VSD) as well as hypertrophied mitral and tricuspid valves and aortic stenosis
	Gata6(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV) associated with subaortic VSDs