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FLASH GENE

Symbol

NR3C2

contributors: mct - updated : 24-09-2016

HGNC name	nuclear receptor subfamily 3, group C, member 2
HGNC id	7979

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal modulator domain
	a central bipartite zinc finger DNA binding domain
	a nuclear localization signal (NLS)
	a C terminal ligand binding domain, including a transactivation and dimerization domain

HOMOLOGY

Homologene

FAMILY	steroid/thyroid hormone receptor superfamily
	nuclear recptor subfamily 3, group C

CATEGORY

transcription factor , receptor nuclear

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	mineralocorticoid nuclear receptor (aldosterone receptor)
	activating gene transcription in response to aldosterone

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

GEMIN4 functions as a novel coregulator of the NR3C2

cell & other

binding to aldosterone

REGULATION

activated by	aldosterone
	progesterone and steroids lacking 21-hydroxyl groups (constitutively when mutated)

ASSOCIATED DISORDERS

corresponding disease(s)

PHA1A2 , NR3C2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in late stage of clear cell renal cell carcinoma (ccRCC)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS