Gene: C8orf49

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GATA4

Alternate names for this Gene: ASD2|TACHD|TOF|VSD1

Gene Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: GATA binding protein 4

Type of Gene: protein-coding

rs12458 in C8orf49;GATA4 gene and Congenital heart disease PMID 27426723 2017 Congenital heart diseases and their association with the variant distribution features on susceptibility genes.