RARB

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. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]

Retinoic Acid Receptor Beta

Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770).
The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580).
In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity).

Biological Process apoptotic processIEA:Ensembl
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process embryonic digestive tract developmentManual Assertion Based On ExperimentIMP:DFLAT
Biological Process embryonic eye morphogenesisIEA:Ensembl
Biological Process embryonic hindlimb morphogenesisIEA:Ensembl
Biological Process glandular epithelial cell developmentIEA:Ensembl
Biological Process growth plate cartilage developmentIEA:Ensembl
Biological Process hormone-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process multicellular organism growthIEA:Ensembl
Biological Process negative regulation of chondrocyte differentiationIEA:Ensembl
Biological Process negative regulation of stem cell proliferationIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neurogenesisIEA:Ensembl
Biological Process positive regulation of apoptotic processIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process retinoic acid receptor signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process stem cell proliferationIEA:Ensembl
Biological Process striatum developmentIEA:Ensembl
Biological Process ureteric bud developmentIEA:Ensembl
Biological Process ventricular cardiac muscle cell differentiationIEA:Ensembl

Nucleus
Cytoplasm
Isoform Beta-1
Nucleus
Isoform Beta-2
Nucleus
Isoform Beta-4
Cytoplasm

Microphthalmia, syndromic, 12 (MCOPS12):
A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.