RAR-related orphan receptor beta

RORB
Identifiers
Aliases	RORB , NR1F2, ROR-BETA, RZR-BETA, RZRB, bA133M9.1, RAR-related orphan receptor beta, RAR related orphan receptor B, EIG15
External IDs	OMIM: 601972; MGI: 1343464; HomoloGene: 38250; GeneCards: RORB; OMA:RORB - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q21.13 Start 74,497,335 bp [1] End 74,693,177 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 B Start 18,907,969 bp [2] End 19,088,560 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus parietal lobe postcentral gyrus retinal pigment epithelium primary visual cortex superior frontal gyrus entorhinal cortex endometrium Top expressed in internal granular layer medial geniculate nucleus medial dorsal nucleus lateral geniculate nucleus Rostral migratory stream retina neural layer of retina retinal pigment epithelium lumbar subsegment of spinal cord posterior horn of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity zinc ion binding transcription factor binding metal ion binding steroid hormone receptor activity nuclear receptor activity protein binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific melatonin receptor activity Cellular component nucleoplasm nucleus Biological process cellular response to retinoic acid regulation of transcription, DNA-templated response to stimulus rhythmic process retinal cone cell development negative regulation of osteoblast differentiation transcription, DNA-templated positive regulation of transcription, DNA-templated multicellular organism development regulation of circadian rhythm retinal rod cell development eye photoreceptor cell development transcription initiation from RNA polymerase II promoter negative regulation of transcription, DNA-templated visual perception steroid hormone mediated signaling pathway intracellular receptor signaling pathway amacrine cell differentiation retina development in camera-type eye positive regulation of transcription by RNA polymerase II G protein-coupled receptor signaling pathway transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6096 225998 Ensembl ENSG00000198963 ENSMUSG00000036192 UniProt Q92753 Q58EY0 Q8R1B8 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 Mb Chr 19: 18.91 – 19.09 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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

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

See also

• RAR-related orphan receptor

References

1. GRCh38: Ensembl release 89: ENSG00000198963 – Ensembl, May 2017
2. 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 & Development. 8 (5): 538–553. 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". Cerebral Cortex. 22 (5): 996–1006. doi:10.1093/cercor/bhr182. PMC   3328343 . PMID   21799210.
8. Carneiro M, Vieillard J, Andrade P, Boucher S, Afonso S, Blanco-Aguiar JA, et al. (March 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". Biochemical and Biophysical Research Communications. 227 (1): 82–87. doi:10.1006/bbrc.1996.1471. PMID   8858107.

Further reading

• Beeson WM, Perry TW, Zurcher TD (July 1977). "Effect of supplemental zinc on growth and on hair and blood serum levels of beef cattle". Journal of Animal Science. 45 (1): 160–165. doi:10.2527/jas1977.451160x. PMID   885817.
• Carlberg C, Hooft van Huijsduijnen R, Staple JK, DeLamarter JF, Becker-André M (June 1994). "RZRs, a new family of retinoid-related orphan receptors that function as both monomers and homodimers". Molecular Endocrinology. 8 (6): 757–770. doi: 10.1210/mend.8.6.7935491 . PMID   7935491. S2CID   22342101.
• Greiner EF, Kirfel J, Greschik H, Dörflinger U, Becker P, Mercep A, et al. (September 1996). "Functional analysis of retinoid Z receptor beta, a brain-specific nuclear orphan receptor". Proceedings of the National Academy of Sciences of the United States of America. 93 (19): 10105–10110. Bibcode:1996PNAS...9310105G. doi: 10.1073/pnas.93.19.10105 . PMC   38344 . PMID   8816759.
• 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". Biochemical and Biophysical Research Communications. 227 (1): 82–87. doi:10.1006/bbrc.1996.1471. PMID   8858107.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Park HT, Baek SY, Kim BS, Kim JB, Kim JJ (October 1996). "Developmental expression of 'RZR beta, a putative nuclear-melatonin receptor' mRNA in the suprachiasmatic nucleus of the rat". Neuroscience Letters. 217 (1): 17–20. doi:10.1016/S0304-3940(96)13060-3 (inactive 1 July 2025). PMID   8905729.
• André E, Conquet F, Steinmayr M, Stratton SC, Porciatti V, Becker-André M (July 1998). "Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice". The EMBO Journal. 17 (14): 3867–3877. doi:10.1093/emboj/17.14.3867. PMC   1170722 . PMID   9670004.
• Greiner EF, Kirfel J, Greschik H, Huang D, Becker P, Kapfhammer JP, et al. (June 2000). "Differential ligand-dependent protein-protein interactions between nuclear receptors and a neuronal-specific cofactor". Proceedings of the National Academy of Sciences of the United States of America. 97 (13): 7160–7165. Bibcode:2000PNAS...97.7160G. doi: 10.1073/pnas.97.13.7160 . PMC   16516 . PMID   10860982.
• Gawlas K, Stunnenberg HG (December 2000). "Differential binding and transcriptional behaviour of two highly related orphan receptors, ROR alpha(4) and ROR beta(1)". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1494 (3): 236–241. doi:10.1016/s0167-4781(00)00237-2. PMID   11121580.
• Gawlas K, Stunnenberg HG (August 2001). "Differential transcription of the orphan receptor RORbeta in nuclear extracts derived from Neuro2A and HeLa cells". Nucleic Acids Research. 29 (16): 3424–3432. doi:10.1093/nar/29.16.3424. PMC   55847 . PMID   11504880.
• Stehlin C, Wurtz JM, Steinmetz A, Greiner E, Schüle R, Moras D, et al. (November 2001). "X-ray structure of the orphan nuclear receptor RORbeta ligand-binding domain in the active conformation". The EMBO Journal. 20 (21): 5822–5831. doi:10.1093/emboj/20.21.5822. PMC   125710 . PMID   11689423.
• Sumi Y, Yagita K, Yamaguchi S, Ishida Y, Kuroda Y, Okamura H (March 2002). "Rhythmic expression of ROR beta mRNA in the mice suprachiasmatic nucleus". Neuroscience Letters. 320 (1–2): 13–16. doi:10.1016/S0304-3940(02)00011-3. hdl: 20.500.14094/D1002462 . PMID   11849752. S2CID   54411407.
• Stehlin-Gaon C, Willmann D, Zeyer D, Sanglier S, Van Dorsselaer A, Renaud JP, et al. (October 2003). "All-trans retinoic acid is a ligand for the orphan nuclear receptor ROR beta". Nature Structural Biology. 10 (10): 820–825. doi:10.1038/nsb979. PMID   12958591. S2CID   10108247.

External links

• orphan+nuclear+receptor+ROR-beta at the U.S. National Library of Medicine Medical Subject Headings (MeSH)