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Retinoic acid receptor beta

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
RARB
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1HRA,1XAP,4DM6,4DM8,4JYG,4JYH,4JYI

Identifiers
AliasesRARB, HAP, MCOPS12, NR1B2, RRB2, RARbeta1, retinoic acid receptor beta, RARbeta
External IDsOMIM:180220;MGI:97857;HomoloGene:68100;GeneCards:RARB;OMA:RARB - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for RARB
Genomic location for RARB
Band3p24.2Start24,687,887bp[1]
End25,597,932bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for RARB
Genomic location for RARB
Band14 A1|14 7.08 cMStart5,650,540bp[2]
End6,038,924bp[2]
RNA expression pattern
Bgee
HumanMouse (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 of heart

  • 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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 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 asNR1B2 (nuclear receptor subfamily 1, group B, member 2) is anuclear receptor that in humans is encoded by theRARBgene.[5][6]

Function

[edit]

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 ofvitamin 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 ahepatitis B virus integration site. A deregulation of this gene has also been detected in uterinecervical 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

[edit]

The Retinoic acid receptor beta aberrant promoterDNA hypermethylation has been observed associated with cancer onset/progression. Indeed, this improperepigenetic phenomenon has been observed in women affected byVulvar Squamous cell carcinoma arose fromvulver 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

[edit]

Retinoic acid receptor beta has been shown tointeract withNR4A2.[9]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000077092Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000017491Ensembl, 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. ^ab"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. ^abRotondo 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

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

PDB gallery
  • 1dsz: STRUCTURE OF THE RXR/RAR DNA-BINDING DOMAIN HETERODIMER IN COMPLEX WITH THE RETINOIC ACID RESPONSE ELEMENT DR1
    1dsz: STRUCTURE OF THE RXR/RAR DNA-BINDING DOMAIN HETERODIMER IN COMPLEX WITH THE RETINOIC ACID RESPONSE ELEMENT DR1
  • 1hra: THE SOLUTION STRUCTURE OF THE HUMAN RETINOIC ACID RECEPTOR-BETA DNA-BINDING DOMAIN
    1hra: THE SOLUTION STRUCTURE OF THE HUMAN RETINOIC ACID RECEPTOR-BETA DNA-BINDING DOMAIN
  • 1xap: Structure of the ligand binding domain of the Retinoic Acid Receptor beta
    1xap: Structure of the ligand binding domain of the Retinoic Acid Receptor beta
  • 1xdk: Crystal Structure of the RARbeta/RXRalpha Ligand Binding Domain Heterodimer in Complex with 9-cis Retinoic Acid and a Fragment of the TRAP220 Coactivator
    1xdk: Crystal Structure of the RARbeta/RXRalpha Ligand Binding Domain Heterodimer in Complex with 9-cis Retinoic Acid and a Fragment of the TRAP220 Coactivator
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
RARTooltip Retinoic acid receptor
RXRTooltip Retinoid X receptor


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