Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Nuclear receptor subfamily 0 group B member 2

The NR0B2 gene encodes an orphan nuclear receoptor. Mutations cause early-onset obesity.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Early-onset obesity



Lu TT et al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.

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Goodwin B et al. (2000) A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis.

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Nishigori H et al. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

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Seol W et al. (1996) An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors.

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Lee HK et al. (1998) Structure and expression of the orphan nuclear receptor SHP gene.

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Kerr TA et al. (2002) Loss of nuclear receptor SHP impairs but does not eliminate negative feedback regulation of bile acid synthesis.

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Wang L et al. (2002) Redundant pathways for negative feedback regulation of bile acid production.

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Echwald SM et al. (2004) Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

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Iyer AK et al. (2006) Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.

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Iyer AK et al. () LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.

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NCBI article

NCBI 8431 external link

OMIM.ORG article

Omim 604630 external link

Wikipedia article

Wikipedia EN (Small_heterodimer_partner) external link
Update: Aug. 14, 2020
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