Retinoic acid receptor beta

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RARB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRARB, HAP, MCOPS12, NR1B2, RRB2, RARbeta1, retinoic acid receptor beta, RARbeta
External IDsOMIM: 180220 MGI: 97857 HomoloGene: 68100 GeneCards: RARB
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001289760
NM_001289761
NM_001289762
NM_011243

RefSeq (protein)

NP_001276689
NP_001276690
NP_001276691
NP_035373

Location (UCSC)Chr 3: 24.69 – 25.6 MbChr 14: 5.65 – 6.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

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.[7] The gene expresses at least two transcript variants; one additional transcript has been described, but its full length nature has not been determined.[5]

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.[8] Methylation of the Retinoic acid receptor beta promoter may be a marker of cancer risk in patients affected by this disease.[8]

Interactions

Retinoic acid receptor beta has been shown to interact with NR4A2.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000077092 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. ^ a b 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

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