RAR-related orphan receptor beta

From Wikipedia, the free encyclopedia
RORB
Identifiers
AliasesRORB, NR1F2, ROR-BETA, RZR-BETA, RZRB, bA133M9.1, RAR-related orphan receptor beta, RAR related orphan receptor B, EIG15
External IDsOMIM: 601972 MGI: 1343464 HomoloGene: 38250 GeneCards: RORB
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006914
NM_001365023

NM_001043354
NM_001289921
NM_146095

RefSeq (protein)

NP_008845
NP_001351952

NP_001036819
NP_001276850
NP_666207

Location (UCSC)Chr 9: 74.5 – 74.69 MbChr 19: 18.91 – 19.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RAR-related orphan receptor beta (ROR-beta), also known as NR1F2 (nuclear receptor subfamily 1, group F, member 2) is a nuclear receptor that in humans is encoded by the RORB gene.[5]

Function[edit]

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside-diphosphate kinase involved in organogenesis and differentiation.[6]

In the brain, ROR-beta is concentrated in layer 4 of the cerebral cortex, where it plays a role in the development of structures such as barrel columns.[7]

A mutation in this gene also results in the loss of spinal cord interneurons and of saltatorial locomotion,[8] a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and some species of rodents.

Interactions[edit]

RAR-related orphan receptor beta has been shown to interact with NME1.[9]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198963 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036192 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Giguère V, Tini M, Flock G, Ong E, Evans RM, Otulakowski G (March 1994). "Isoform-specific amino-terminal domains dictate DNA-binding properties of ROR alpha, a novel family of orphan hormone nuclear receptors". Genes Dev. 8 (5): 538–53. doi:10.1101/gad.8.5.538. PMID 7926749.
  6. ^ "Entrez Gene: RORB RAR-related orphan receptor B".
  7. ^ Jabaudon D, Shnider SJ, Tischfield DJ, Galazo MJ, Macklis JD (May 2012). "RORβ induces barrel-like neuronal clusters in the developing neocortex". Cereb. Cortex. 22 (5): 996–1006. doi:10.1093/cercor/bhr182. PMC 3328343. PMID 21799210.
  8. ^ Carneiro, Miguel; Vieillard, Jennifer; Andrade, Pedro; Boucher, Samuel; Afonso, Sandra; Blanco-Aguiar, José A.; Santos, Nuno; Branco, João; Esteves, Pedro J.; Ferrand, Nuno; Kullander, Klas; Andersson, Leif (2021). "A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits". PLOS Genetics. 17 (3): e1009429. doi:10.1371/journal.pgen.1009429. PMC 7993613. PMID 33764968.
  9. ^ Paravicini G, Steinmayr M, André E, Becker-André M (October 1996). "The metastasis suppressor candidate nucleotide diphosphate kinase NM23 specifically interacts with members of the ROR/RZR nuclear orphan receptor subfamily". Biochem. Biophys. Res. Commun. 227 (1): 82–7. doi:10.1006/bbrc.1996.1471. PMID 8858107.

Further reading[edit]

External links[edit]