NR3C2 (Entrez ID: 4306)

Entrez Gene ID	4306
Official Gene Symbol	NR3C2 (GeneCards)
Full name	nuclear receptor subfamily 3 group C member 2
Location	4q31.23
Other ids	Vega : OTTHUMG00000161455 MIM : 600983 HGNC : HGNC:7979 Ensembl : ENSG00000151623
Other names	MR, MCR, MLR, NR3C2VIT
Summary	This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Variants

Found 16 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1090	4306	NR3C2	4	149357403	149357403	Human Skin Fibroblasts	HiSeq 2500
1091	4306	NR3C2	4	149357404	149357404	Human Skin Fibroblasts	HiSeq 2500
6466	4306	NR3C2	4	149727087	149727087	Asymptomatic	HiSeq 2500 HiSeq X Ten
6794	4306	NR3C2	4	149248312	149248312	Asymptomatic	HiSeq 2500 HiSeq X Ten
6828	4306	NR3C2	4	149968008	149968008	Asymptomatic	HiSeq 2500 HiSeq X Ten
6829	4306	NR3C2	4	149978865	149978865	Asymptomatic	HiSeq 2500 HiSeq X Ten
7112	4306	NR3C2	4	149741117	149741117	Cockayne syndrome	HiSeq 2500 HiSeq X Ten
7280	4306	NR3C2	4	149201809	149201809	Cockayne syndrome	HiSeq 2500 HiSeq X Ten
7464	4306	NR3C2	4	149517392	149517392	Xeroderma Pigmentosum	HiSeq 2500 HiSeq X Ten
22877	4306	NR3C2	4	149916438	149916438	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25491	4306	NR3C2	4	149133005	149133005	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25528	4306	NR3C2	4	149256526	149256526	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25567	4306	NR3C2	4	149256526	149256526	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25589	4306	NR3C2	4	149528391	149528391	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25740	4306	NR3C2	4	149571211	149571211	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
34345	4306	NR3C2	4	149041624	149041624	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing