Nuclear receptor subfamily 0 group B member 2
The NR0B2 gene encodes an orphan nuclear receoptor. Mutations cause early-onset obesity.
Genetests:
Related Diseases:
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. |
Nishigori H et al. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
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| 4. |
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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| 5. |
Lee HK et al. (1998) Structure and expression of the orphan nuclear receptor SHP gene.
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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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| 11. |
NCBI article
NCBI 8431
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| 12. |
OMIM.ORG article
Omim 604630
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| 13. |
Wikipedia article
Wikipedia EN (Small_heterodimer_partner)
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Update: June 23, 2025