Gene: GATAD1

Alternate names for this Gene: CMD2B|ODAG|RG083M05.2

Gene Summary: The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: GATA zinc finger domain containing 1

Type of Gene: protein-coding

Gene: ERVW-1

Alternate names for this Gene: ENV|ENVW|ERVWE1|HERV-7q|HERV-W-ENV|HERV7Q|HERVW|HERVWENV

Gene Summary: Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: endogenous retrovirus group W member 1, envelope

Type of Gene: protein-coding

rs13229255 in GATAD1;ERVW-1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.