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FLASH GENE

Symbol

RARB

contributors: mct/npt/pgu - updated : 25-11-2013

HGNC name	retinoic acid receptor, beta
HGNC id	9865

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PAMD2 pulmonary agenesis, microphthalmia, and diaphragmatic defect 2
Location	3p24.2      Physical location : 25.469.753 - 25.639.420
Synonym name	HBV-activated protein
	nuclear receptor subfamily 1 group B member 2
	hepatitis B virus activated protein
Synonym symbol(s)	HAP, HBVI, NR1B2, RRB2, RAR-beta, RAR-epsilon

DNA

TYPE	functioning gene
STRUCTURE	169.67 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

hepatitis B virus integretion site

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant RAR beta prime - - - isoform RAR beta prime - - - 2006 17001699 truncated isoform lacking the N-terminal domains of beta 2 and beta 4, including the DNA-binding domain able to heterodimerize and interact with transcription cofactors enhances proliferation and retinoid resistance NM_000965 8 - 3142 NP_000956 - 448 - 2007 17433757 NM_016152 8 - 2760 NP_057236 37.9 336 - 2007 17433757 RARB2 frequently inactivated in cancer (Pappas 2008)

EXPRESSION

Type

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 Cardiovascular heart         Urinary kidney         Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eye (trabecular meshwork)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one modulating N terminal domain
	both 'zinc-fingers' of the DNA-binding domain are encoded separately in two exons and the ligand-binding domain is assembled from five exons
	C terminal steroid binding domain

HOMOLOGY

interspecies

homolog to murine Rarb

Homologene

FAMILY

nuclear hormone receptor family

CATEGORY

DNA associated , transcription factor , tumor suppressor , receptor nuclear

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

basic FUNCTION	morphogen controlling cell functions by directly regulating gene expression
	possible role of the retinol pathway in the development of lipodystrophy phenotypes
	frequently deleted or epigenetically silenced at early stages in tumor progression and corresponds to a tumor suppressor
	its activity is essential for proper differentiation of ES cells to pancreatic endocrine cells
	crucial role of the retinoic acid pathway during eye development and organogenesis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

activated by

both all-trans (T-RA) and its 9-cis isomer (9-cis-RA) retinoic acids

ASSOCIATED DISORDERS

corresponding disease(s)

PAMD2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   by hypermethylation in patients with familial partial lipodystrophy and LMNA gene mutations (R482L and R471G) tumoral     --low   by promoter region methylation is an early event in endometrial carcinogenesis tumoral   deletion     or weakly expressed in esophageal cancer by hypermethylation of the promoter tumoral     --low   by hypermethylation in non-small cell lung cancer (NSCLC) more frequent in females compared to males

Susceptibility

to meningomyelocele (MM)

Variant & Polymorphism SNP	rs6799734, rs12630816, rs17016462 conferred a protective effect for MM susceptibility

Candidate gene	detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
Marker
Therapy target	AM580 (a RAR-specific agonist might be considered as a potential treatment for endometrial carcinoma
	potential pharmacological target to the regulation of stem cell function (chondrogenesis can be induced using a synthetic inhibitor of the retinoic acid receptor)

ANIMAL & CELL MODELS