Misplaced Pages

RARB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1HRA, 1XAP, 4DM6, 4DM8, 4JYG, 4JYH, 4JYI
Identifiers
Aliases	RARB, HAP, MCOPS12, NR1B2, RRB2, RARbeta1, retinoic acid receptor beta, RARbeta
External IDs	OMIM: 180220; MGI: 97857; HomoloGene: 68100; GeneCards: RARB; OMA:RARB - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p24.2 Start 24,687,887 bp End 25,597,932 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14 A1|14 7.08 cM Start 5,650,540 bp End 6,038,924 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus palpebral conjunctiva buccal mucosa cell right lung gonad nucleus accumbens caudate nucleus olfactory zone of nasal mucosa right auricle Achilles tendon Top expressed in olfactory tubercle nucleus accumbens wall of esophagus stroma of kidney mucosa of esophagus epithelium of esophagus genital tubercle globus pallidus abdominal wall atrioventricular valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity zinc ion binding metal ion binding steroid hormone receptor activity protein binding DNA-binding transcription factor activity, RNA polymerase II-specific protein-containing complex binding retinoid X receptor binding transcription cis-regulatory region binding transcription factor binding nuclear receptor coactivator activity signaling receptor activity nuclear receptor activity Cellular component cytoplasm nucleoplasm nucleus RNA polymerase II transcription regulator complex Biological process growth plate cartilage development positive regulation of transcription by RNA polymerase II neurogenesis ureteric bud development regulation of transcription, DNA-templated negative regulation of cartilage development multicellular organism growth embryonic eye morphogenesis positive regulation of programmed cell death negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II retinal pigment epithelium development transcription, DNA-templated outflow tract septum morphogenesis negative regulation of chondrocyte differentiation retinoic acid receptor signaling pathway regulation of myelination retina development in camera-type eye positive regulation of neuron differentiation positive regulation of cell population proliferation positive regulation of apoptotic process ventricular cardiac muscle cell differentiation transcription initiation from RNA polymerase II promoter bone development embryonic digestive tract development striatum development signal transduction negative regulation of cell population proliferation glandular epithelial cell development steroid hormone mediated signaling pathway embryonic hindlimb morphogenesis liver development multicellular organism development hormone-mediated signaling pathway cell differentiation response to retinoic acid response to lipid gland development bone morphogenesis epithelium development cellular response to retinoic acid Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5915 218772 Ensembl ENSG00000077092 ENSMUSG00000017491 UniProt P10826 Q5QHG3 P22605 RefSeq (mRNA) NM_000965 NM_001290216 NM_001290217 NM_001290266 NM_001290276 NM_001290277 NM_001290300 NM_016152 NM_001289760 NM_001289761 NM_001289762 NM_011243 RefSeq (protein) NP_000956 NP_001277145 NP_001277146 NP_001277195 NP_001277205 NP_001277206 NP_001277229 NP_057236 NP_001277146.1 NP_001277205.1 NP_057236.1 NP_001276689 NP_001276690 NP_001276691 NP_035373 Location (UCSC) Chr 3: 24.69 – 25.6 Mb Chr 14: 5.65 – 6.04 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Retinoic acid receptor beta (RAR-beta), also known as NR1B2 (nuclear receptor subfamily 1, group B, member 2) is a nuclear receptor that in humans is encoded by the RARB gene.

Function

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. A deregulation of this gene has also been detected in uterine cervical carcinoma preneoplastic lesions. The gene expresses at least two transcript variants; one additional transcript has been described, but its full length nature has not been determined.

Epigenetics

The Retinoic acid receptor beta aberrant promoter DNA hypermethylation has been observed associated with cancer onset/progression. Indeed, this improper epigenetic phenomenon has been observed in women affected by Vulvar Squamous cell carcinoma arose from vulver lichen sclerosus. Methylation of the Retinoic acid receptor beta promoter may be a marker of cancer risk in patients affected by this disease.

Interactions

Retinoic acid receptor beta has been shown to interact with NR4A2.

See also

• Retinoic acid receptor

References

1. ^ GRCh38: Ensembl release 89: ENSG00000077092 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000017491 – 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. ^ "Entrez Gene: RARB retinoic acid receptor, beta".
6. Mattei MG, de Thé H, Mattei JF, Marchio A, Tiollais P, Dejean A (Oct 1988). "Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3". Human Genetics. 80 (2): 189–90. doi:10.1007/BF00702867. PMID 2844650. S2CID 23090420.
7. Rotondo JC, Bosi S, Bassi C, Ferracin M, Lanza G, Gafà R, Magri E, Selvatici R, Torresani S, Marci R, Garutti P, Negrini M, Tognon M, Martini F (April 2015). "Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes". J Cell Physiol. 230 (4): 802–812. doi:10.1002/jcp.24808. hdl:11392/2066612. PMID 25205602. S2CID 24986454.
8. ^ Rotondo JC, Borghi A, Selvatici R, Mazzoni E, Bononi I, Corazza M, Kussini J, Montinari E, Gafà R, Tognon M, Martini F (2018). "Association of Retinoic Acid Receptor β Gene With Onset and Progression of Lichen Sclerosus-Associated Vulvar Squamous Cell Carcinoma". JAMA Dermatology. 154 (7): 819–823. doi:10.1001/jamadermatol.2018.1373. PMC 6128494. PMID 29898214.
9. Perlmann T, Jansson L (Apr 1995). "A novel pathway for vitamin A signaling mediated by RXR heterodimerization with NGFI-B and NURR1". Genes & Development. 9 (7): 769–82. doi:10.1101/gad.9.7.769. PMID 7705655.

Further reading

• Dejean A, de Thé H (Jun 1990). "Hepatitis B virus as an insertional mutagene in a human hepatocellular carcinoma". Molecular Biology & Medicine. 7 (3): 213–22. PMID 2170809.
• Sun SY (Jan 2004). "Retinoic acid receptor beta and colon cancer". Cancer Biology & Therapy. 3 (1): 87–8. doi:10.4161/cbt.3.1.686. PMID 14726690. S2CID 42332707.
• Saba N, Jain S, Khuri F (2004). "Chemoprevention in lung cancer". Current Problems in Cancer. 28 (5): 287–306. doi:10.1016/j.currproblcancer.2004.05.005. PMID 15375805.
• Klein O, Grignon Y, Civit T, Auque J, Marchal JC (Sep 2005). "". Neuro-Chirurgie. 51 (3–4 Pt 1): 147–54. doi:10.1016/S0028-3770(05)83470-8. PMID 16389900.
• Katahira M, Knegtel RM, Boelens R, Eib D, Schilthuis JG, van der Saag PT, Kaptein R (Jul 1992). "Homo- and heteronuclear NMR studies of the human retinoic acid receptor beta DNA-binding domain: sequential assignments and identification of secondary structure elements". Biochemistry. 31 (28): 6474–80. doi:10.1021/bi00143a017. PMID 1321662.
• Berrodin TJ, Marks MS, Ozato K, Linney E, Lazar MA (Sep 1992). "Heterodimerization among thyroid hormone receptor, retinoic acid receptor, retinoid X receptor, chicken ovalbumin upstream promoter transcription factor, and an endogenous liver protein". Molecular Endocrinology. 6 (9): 1468–78. doi:10.1210/mend.6.9.1331778. PMID 1331778. S2CID 24291055.
• van der Leede BJ, Folkers GE, Kruyt FA, van der Saag PT (Oct 1992). "Genomic organization of the human retinoic acid receptor beta 2". Biochemical and Biophysical Research Communications. 188 (2): 695–702. doi:10.1016/0006-291X(92)91112-4. PMID 1332705.
• Prentice A, Matthews CJ, Thomas EJ, Redfern CP (May 1992). "The expression of retinoic acid receptors in cultured human endometrial stromal cells and effects of retinoic acid". Human Reproduction. 7 (5): 692–700. doi:10.1093/oxfordjournals.humrep.a137721. PMID 1379266.
• Shen S, Kruyt FA, den Hertog J, van der Saag PT, Kruijer W (1992). "Mouse and human retinoic acid receptor beta 2 promoters: sequence comparison and localization of retinoic acid responsiveness". DNA Sequence. 2 (2): 111–9. doi:10.3109/10425179109039679. PMID 1663808.
• de Thé H, Vivanco-Ruiz MM, Tiollais P, Stunnenberg H, Dejean A (Jan 1990). "Identification of a retinoic acid responsive element in the retinoic acid receptor beta gene". Nature. 343 (6254): 177–80. Bibcode:1990Natur.343..177D. doi:10.1038/343177a0. PMID 2153268. S2CID 4314508.
• Hoffmann B, Lehmann JM, Zhang XK, Hermann T, Husmann M, Graupner G, Pfahl M (Nov 1990). "A retinoic acid receptor-specific element controls the retinoic acid receptor-beta promoter". Molecular Endocrinology. 4 (11): 1727–36. doi:10.1210/mend-4-11-1727. PMID 2177841.
• de Thé H, Marchio A, Tiollais P, Dejean A (1988). "A novel steroid thyroid hormone receptor-related gene inappropriately expressed in human hepatocellular carcinoma". Nature. 330 (6149): 667–70. doi:10.1038/330667a0. PMID 2825037. S2CID 4327614.
• Brand N, Petkovich M, Krust A, Chambon P, de Thé H, Marchio A, Tiollais P, Dejean A (Apr 1988). "Identification of a second human retinoic acid receptor". Nature. 332 (6167): 850–3. Bibcode:1988Natur.332..850B. doi:10.1038/332850a0. PMID 2833708. S2CID 4349193.
• Benbrook D, Lernhardt E, Pfahl M (Jun 1988). "A new retinoic acid receptor identified from a hepatocellular carcinoma". Nature. 333 (6174): 669–72. Bibcode:1988Natur.333..669B. doi:10.1038/333669a0. PMID 2836738. S2CID 4313063.
• Dejean A, Bougueleret L, Grzeschik KH, Tiollais P (1986). "Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma". Nature. 322 (6074): 70–2. Bibcode:1986Natur.322...70D. doi:10.1038/322070a0. PMID 3014347. S2CID 4355348.
• Si SP, Tsou HC, Lee X, Peacocke M (Jul 1995). "Effect of cellular senescence and retinoic acid on the expression of cellular retinoic acid binding proteins in skin fibroblasts". Experimental Cell Research. 219 (1): 243–8. doi:10.1006/excr.1995.1224. PMID 7628539.
• Houle B, Pelletier M, Wu J, Goodyer C, Bradley WE (Jan 1994). "Fetal isoform of human retinoic acid receptor beta expressed in small cell lung cancer lines". Cancer Research. 54 (2): 365–9. PMID 8275470.
• Knegtel RM, Katahira M, Schilthuis JG, Bonvin AM, Boelens R, Eib D, van der Saag PT, Kaptein R (Jan 1993). "The solution structure of the human retinoic acid receptor-beta DNA-binding domain". Journal of Biomolecular NMR. 3 (1): 1–17. doi:10.1007/BF00242472. hdl:1874/378403. PMID 8383553. S2CID 24063437.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 3 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 3
• Intracellular receptors
• Transcription factors
• Human chromosome 3 gene stubs