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FLASH GENE

Symbol

RORB

contributors: mct - updated : 13-03-2024

HGNC name	RAR-related orphan receptor B
HGNC id	10259

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL9Q21 chromosome 9q21 microdeletions EGI7 epilepsy generalized idiopathic, 7
Location	9q21.13      Physical location : 77.112.251 - 77.302.115
Synonym name	nuclear receptor RZR-beta
	nuclear receptor ROR-beta
	retinoic acid-binding receptor beta
	retinoid Z receptor beta
	RAR-related orphan receptor beta
Synonym symbol(s)	RZRB, NR1F2, ROR-BETA, bA133M9.1, EIG15, NR1F2, ROR-BETA,

DNA

TYPE	functioning gene
STRUCTURE	195.84 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006914 10 - 3604 NP_008845 - 459 - 2001 11689423 NM_001365023 10 - 9038 NP_001351952 - 470 - 2001 11689423

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain cerebral cortex     Homo sapiens   brain diencephalon epithalamus pineal gland specific Homo sapiens   brain diencephalon hypothalamus suprachiasmatic nuclei specific Homo sapiens Visual eye retina     specific Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal conserved domain
	a central bipartite zinc finger with differential DNA binding activities
	a C terminal ligand binding domain, containing a bound stearate ligand and complexed with a coactivator peptide

HOMOLOGY

intraspecies

homolog to RAR orphan receptor B

Homologene

FAMILY

steroid/thyroid retinoic receptor superfamily

CATEGORY

transcription factor , receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	retinoid-regulated nuclear receptor, binding all-trans retinoic acid and several other retinoids
	involved in the processing of sensory information and in the components of circadian timing system (the suprachiasmatic nuclei, retina and pineal gland)
	may regulate clock responses to photic stimuli at certain time domains
	directs rod development and does so at least in part by inducing the NRL-mediated pathway of rod differentiation
	with other trans-acting regulators, helps to initiate the rod differentiation program and might later maintain NRL expression in mature retina
	act as an osteogenic repressor in regulating bone formation, and is involved in regulating circadian rhythm
	FOXN4, RORB and their downstream effector PTF1A, have been shown to be indispensable intrinsic regulators for the differentiation of amacrine and horizontal cells
	RORB and RORC are part of the molecular cascade that regulates insulin secretion in pancreatic beta cells
	is a key developmental mediator of colliculo-thalamic innervation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

circadian

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA	DNA binding

RNA

small molecule	metal binding,
	Zn2+

protein	interacting with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation
	OPN1SW is a target gene for RORbeta and suggest a key role for RORbeta in regulating opsin expression in the color visual system
	NRL is a direct transcriptional target of RORB, suggesting that combinatorial action of multiple regulatory factors modulates the expression of NRL in developing and mature retina
	CRX, OTX2, and RORB directly regulate NRL transcription by binding to critical sites within the NRL promoter
	RORB and FOXN4 synergistically induce PTF1A expression, suggesting a central role for RORB in a transcriptional hierarchy that directs this interneuron differentiation pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL9Q21 , EGI7

Susceptibility

to pediatric bipolar disorder

Variant & Polymorphism SNP	four intronic RORB SNPs showed positive associations with the pediatric bipolar disorder

Candidate gene	RORB is a strong candidate for a neurological phenotype in del 9q21 patients
Marker	RORB is a marker of selectively vulnerable excitatory neurons in the entorhinal cortex
Therapy target

ANIMAL & CELL MODELS

	Rorb(-/-) mice lacking retinoid-related orphan nuclear receptor beta lose rods but overproduce primitive S cones that lack outer segments
	Rorbeta-deficient mice fail to induce S opsin appropriately during postnatal cone development
	Rorb-deficient mice lose expression of pancreas-specific transcription factor 1a (Ptf1a) but retain forkhead box n4 factor (Foxn4), two early-acting factors necessary for amacrine and horizontal cell generation 1