NR0B2 Chromosome 1
Nuclear receptor subfamily 0 group B member 2
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What This Gene Does
The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nuclear receptor subfamily 0 group B
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000131910
Associated Conditions (6)
Obesity
APC-mutation negative familial colorectal cancer
Inherited obesity
NR0B2-related disorder
mild
early-onset
Key Variants
RS151014108
Conflicting classifications of pathogenicity
Obesity, Obesity
Health Risk
RS540387719
Conflicting classifications of pathogenicity
APC-mutation negative familial colorectal cancer, Inherited obesity, NR0B2-related disorder
Health Risk
RS1307335604
Likely pathogenic
Inherited obesity, Inherited obesity
Health Risk
RS1570714352
Likely pathogenic
APC-mutation negative familial colorectal cancer, Obesity, APC-mutation negative familial colorectal cancer
Health Risk
RS74315349
Pathogenic
Obesity, mild, early-onset
Health Risk
RS779783209
Pathogenic
APC-mutation negative familial colorectal cancer, Obesity, APC-mutation negative familial colorectal cancer
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151014108 | Health Risk | Conflicting classifications of pathogenicity | Obesity, Obesity |
| RS540387719 | Health Risk | Conflicting classifications of pathogenicity | APC-mutation negative familial colorectal cancer, Inherited obesity, NR0B2-related disorder |
| RS1307335604 | Health Risk | Likely pathogenic | Inherited obesity, Inherited obesity |
| RS1570714352 | Health Risk | Likely pathogenic | APC-mutation negative familial colorectal cancer, Obesity, APC-mutation negative familial colorectal cancer |
| RS74315349 | Health Risk | Pathogenic | Obesity, mild, early-onset |
| RS779783209 | Health Risk | Pathogenic | APC-mutation negative familial colorectal cancer, Obesity, APC-mutation negative familial colorectal cancer |