RARB

Protein identityUniProt · HPA

UniProt accession

P10826

Gene

RARB

Ensembl

ENSG00000077092

Chromosome

3

Canonical length

455 aa

Protein class

Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

455 residues, UniProt reviewed canonical sequence.

>P10826|RARB
     1  MTTSGHACPV PAVNGHMTHY PATPYPLLFP PVIGGLSLPP LHGLHGHPPP SGCSTPSPAT
    61  IETQSTSSEE LVPSPPSPLP PPRVYKPCFV CQDKSSGYHY GVSACEGCKG FFRRSIQKNM
   121  IYTCHRDKNC VINKVTRNRC QYCRLQKCFE VGMSKESVRN DRNKKKKETS KQECTESYEM
   181  TAELDDLTEK IRKAHQETFP SLCQLGKYTT NSSADHRVRL DLGLWDKFSE LATKCIIKIV
   241  EFAKRLPGFT GLTIADQITL LKAACLDILI LRICTRYTPE QDTMTFSDGL TLNRTQMHNA
   301  GFGPLTDLVF TFANQLLPLE MDDTETGLLS AICLICGDRQ DLEEPTKVDK LQEPLLEALK
   361  IYIRKRRPSK PHMFPKILMK ITDLRSISAK GAERVITLKM EIPGSMPPLI QEMLENSEGH
   421  EPLTPSSSGN TAEHSPSISP SSVENSGVSQ SPLVQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RARB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RARB.

Disease | AllUniProt

Conditions RARB is implicated in, by any mechanism.

• Microphthalmia, syndromic, 12 (MCOPS12) MIM:615524

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 165 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Microphthalmia, syndromic 12
• Microphthalmia
• Inborn genetic diseases
• Intellectual disability, autosomal dominant 48
• Congenital ocular coloboma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

2.87

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• cell differentiation
• embryonic digestive tract development
• embryonic eye morphogenesis
• embryonic hindlimb morphogenesis
• glandular epithelial cell development
• growth plate cartilage development
• multicellular organism growth
• negative regulation of apoptotic process
• negative regulation of chondrocyte differentiation
• negative regulation of stem cell proliferation
• negative regulation of transcription by RNA polymerase II
• neural precursor cell proliferation
• neurogenesis
• outflow tract septum morphogenesis
• positive regulation of apoptotic process
• positive regulation of transcription by RNA polymerase II
• regulation of myelination
• retinoic acid receptor signaling pathway
• signal transduction
• stem cell proliferation
• striatum development
• ureteric bud development
• ventricular cardiac muscle cell differentiation

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• heterocyclic compound binding
• nuclear receptor activity
• nuclear retinoid X receptor binding
• protein-containing complex binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• chromatin
• cytoplasm
• nucleoplasm
• nucleus
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Nuclear hormone receptor, ligand-binding domain
• Zinc finger, nuclear hormone receptor-type
• Nuclear hormone receptor
• Retinoic acid receptor
• Zinc finger, NHR/GATA-type
• Nuclear hormone receptor-like domain superfamily
• Retinoic acid receptor, ligand-binding domain
• Retinoic acid receptor, DNA-binding domain
• Ligand-binding domain of nuclear hormone receptor
• Double treble clef zinc finger, C4 type

KeywordsUniProt

• Cytoplasm
• DNA-binding
• Metal-binding
• Microphthalmia
• Nucleus
• Phosphoprotein
• Proto-oncogene
• Receptor
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of RARB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HACE1
• NCOR2
• CNOT9
• RXRG