GATA-Binding Protein 4

Alternative Names

GATA4

Length

83,079 bases

No. of Exons

No. of isoforms

Protein Name

Transcription factor GATA-4

Molecular Mass

44565 Da

Amino Acid Count

442

Genomic Location

chr8:11,676,924-11,760,002

Gene Map Locus

8p23.1

Description

The GATA4 gene encodes a transcription factor belonging to the GATA family of zinc-finger proteins. By recognising the GATA motif present in the promoter region, members of this family are able to activate the transcription of various genes. The GATA4 protein plays a role in regulating cardiac development and function as well as testicular development.

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001308093.3:c.1132A>G	Lebanon	chr8:11757066	Benign	Likely Pathogenic	Ventricular Septal Defect 1	NG_008177.2:g.85148A>G; NM_001308093.3:c.1132A>G; NP_001295022.1:p.Ser378Gly	3729856	44334
NM_002052.4:c.648G>A	Lebanon	NC_000008.11:g.11748950G>A		Pathogenic	Tetralogy of Fallot	NM_002052.4:c.648G>A; NP_002043.2:p.Glu216=	753334396

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA4

Contributors

Pratibha Nair: 14.10.2020
Sayeeda Hana: 13.09.2019

Edit History

Pratibha Nair: 14.10.2020
Sayeeda Hana: 13.09.2019

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