Ovaj gen kodira beta receptor retinoidne kiseline, član superfamilije receptora za hormone štitnjače, regulatora jedarne transkripcije. Ovaj receptor nalazi se u citoplazmi i u subjedarnim odjeljcima. Veže retinoidnu kiselinu, biološki aktivni oblik vitamina A koji posreduje ćelijsku signalizaciju u morfogeneziembriona, rastu i diferencijaciji ćelija. Smatra se da ovaj protein ograničava rast mnogih tipova ćelija regulacijom ćelijskoj diferencijaciji i ekspresije gena. Gen je prvi put identificiran u hepatćelijskom karcinomu gdje se nalazi na boku mjesta integracije virusa hepatitisa B. Deregulacija ovog gena je također otkrivena u preneoplazijskim lezijamakarcinoma grlića materice.[7] Gen eksprimira najmanje dvije varijante transkripta; opisan je još jedan transkript, ali nije utvrđena njegova puna dužina.[5]
Uočeno je da je beta aberantni promotor receptora retinoidne kiseline hipermetilacije DNK povezan sa pojavom/progresijom raka. Zaista, ovaj neprikladan epigenetički fenomen je uočen kod žena zahvaćenih karcinomom skvamoznih ćelija vulve nastao je iz vulvinnog lichen sclerosus.[8] Metilacija beta promotora receptora retinoične kiseline može biti marker rizika od raka kod pacijenata oboljelih od ove bolesti.[8]
^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. PMID25205602. S2CID24986454.
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. PMID2170809.
Klein O, Grignon Y, Civit T, Auque J, Marchal JC (Sep 2005). "[Methylation status of RARbeta gene promoter in low and high grade cerebral glioma. Comparison with normal tissue. Immuno-histochemical study of nuclear RARbeta expression in low and high grade cerebral glioma cells. Comparison with normal cells. 48 tumors]". Neuro-Chirurgie. 51 (3–4 Pt 1): 147–54. doi:10.1016/S0028-3770(05)83470-8. PMID16389900.
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. PMID1321662.
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/me.6.9.1468. PMID1331778.
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. PMID1332705.
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. PMID1663808.
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. PMID2153268. S2CID4314508.
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. PMID2825037. S2CID4327614.
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. PMID3014347. S2CID4355348.
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. PMID7628539.
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. PMID8275470.
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. PMID8383553. S2CID24063437.