NR1D2 Chromosome 3

Nuclear receptor subfamily 1 group D member 2

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Gene Info

Gene Group

Nuclear receptor subfamily 1 group D

Locus Type

gene with protein product

Location

3p24.2

Ensembl

ENSG00000174738

Associated Conditions (1)

Familial atrioventricular septal defect

Key Variants

RS1358487339

Likely pathogenic

Familial atrioventricular septal defect, Familial atrioventricular septal defect

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1358487339	Health Risk	Likely pathogenic	Familial atrioventricular septal defect, Familial atrioventricular septal defect