Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nuclear receptor subfamily 0 group B member 2

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

Genetests:

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

Related Diseases:

Early-onset obesity
NR0B2
POMC

References:

1.

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

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2.

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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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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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9.

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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10.

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

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Update: Sept. 26, 2018