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... See more...

Aliases for RARB Gene

Aliases for RARB Gene

  • Retinoic Acid Receptor Beta 2 3 4 5
  • Nuclear Receptor Subfamily 1 Group B Member 2 3 4
  • HBV-Activated Protein 3 4
  • RAR-Epsilon 3 4
  • RAR-Beta 3 4
  • NR1B2 3 4
  • HAP 3 4
  • Retinoic Acid Receptor, Beta Polypeptide 3
  • Hepatitis B Virus Activated Protein 3
  • Retinoic Acid Receptor, Beta 2
  • RARbeta1 3
  • MCOPS12 3
  • RRB2 3

External Ids for RARB Gene

Previous GeneCards Identifiers for RARB Gene

  • GC03P025167
  • GC03P025066
  • GC03P025191
  • GC03P025192
  • GC03P025444

Summaries for RARB Gene

Entrez Gene Summary for RARB 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]

GeneCards Summary for RARB Gene

RARB (Retinoic Acid Receptor Beta) is a Protein Coding gene. Diseases associated with RARB include Microphthalmia, Syndromic 12 and Microphthalmia, Syndromic 9. Among its related pathways are ERK Signaling and Signaling by Retinoic Acid. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is RARA.

UniProtKB/Swiss-Prot Summary for RARB Gene

  • 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).

Tocris Summary for RARB Gene

  • Retinoic acid receptors (RARs) are nuclear hormone receptors of the NR1B class, which function as heterodimers with retinoid X receptors (RXRs). There are three distinct RAR subtypes: RARalpha, present in most tissue types; and RARbeta and RARgamma, with more selective expression.

Gene Wiki entry for RARB Gene

Additional gene information for RARB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RARB Gene

Genomics for RARB Gene

GeneHancer (GH) Regulatory Elements for RARB Gene

Promoters and enhancers for RARB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J025425 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 +255.9 255926 8.6 EP300 TCF12 POLR2G NCOR1 JUND PHF8 TEAD4 SKI BHLHE40 ATF2 RARB piR-42491-151 RARB-AS1
GH03J024829 Promoter 1.1 EPDnew CraniofacialAtlas 500 -345.2 -345222 0.8 ZNF10 ZIC2 ZNF623 OSR2 CTCF ZNF777 ZNF785 REST EZH2 L3MBTL2 RARB piR-48769 HSALNG0024730 ENSG00000237838
GH03J025457 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 500.1 +283.7 283729 2 JUND ZNF10 EP300 ATF2 MXI1 RBM25 CREB1 GATA3 JUN FOS RARB piR-32214-479 HSALNG0024737
GH03J025467 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.1 +293.2 293168 0.1 RARB piR-32214-479 HSALNG0024737
GH03J025173 Enhancer 0.4 Ensembl 500.7 -0.3 -331 0.4 WT1 PRDM6 CTBP1 ZNF384 PKNOX1 RARB RF00001-212 RNA5SP125 ENSG00000237838
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RARB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RARB

Top Transcription factor binding sites by QIAGEN in the RARB gene promoter:
  • C/EBPbeta
  • CBF-B

Genomic Locations for RARB Gene

Genomic Locations for RARB Gene
chr3:25,174,332-25,597,932
(GRCh38/hg38)
Size:
423,601 bases
Orientation:
Plus strand
chr3:25,215,823-25,639,423
(GRCh37/hg19)
Size:
423,601 bases
Orientation:
Plus strand

Genomic View for RARB Gene

Genes around RARB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RARB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RARB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RARB Gene

Proteins for RARB Gene

  • Protein details for RARB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10826-RARB_HUMAN
    Recommended name:
    Retinoic acid receptor beta
    Protein Accession:
    P10826
    Secondary Accessions:
    • P12891
    • Q00989
    • Q15298
    • Q9UN48

    Protein attributes for RARB Gene

    Size:
    455 amino acids
    Molecular mass:
    50489 Da
    Quaternary structure:
    • Homodimer (By similarity). Heterodimer; with a RXR molecule (By similarity). Binds DNA preferentially as a RAR/RXR heterodimer (By similarity). Heterodimerizes (via NR LBD) with RXRA (PubMed:29021580). Interacts weakly with NCOR2 (PubMed:12554770).
    SequenceCaution:
    • Sequence=CAA27637.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RARB Gene

    Alternative splice isoforms for RARB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RARB Gene

Post-translational modifications for RARB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RARB Gene

Domains & Families for RARB Gene

Gene Families for RARB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for RARB Gene

Blocks:
  • Steroid hormone receptor signature
  • Retinoic acid receptor (1B nuclear receptor) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RARB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56241, highly similar to Retinoic acid receptor beta (B4DSI3_HUMAN)
  • Retinoic acid receptor beta (B6ZGR8_HUMAN)
  • Retinoic acid receptor, beta, isoform CRA_a (F1D8S6_HUMAN)
  • RARB protein (Q15299_HUMAN)
  • Retinoic acid receptor, beta, isoform CRA_b (Q5QHG3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10826

UniProtKB/Swiss-Prot:

RARB_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • The DNA-binding nuclear receptor domain and the NR LBD domain are required for binding of the RARB/RXRA heterodimer to both DR1 and DR5 DNA elements.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with RARB: view

Function for RARB Gene

Molecular function for RARB Gene

UniProtKB/Swiss-Prot Function:
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).
GENATLAS Biochemistry:
retinoic acid receptor binding and activated by both all-trans (T-RA) and its 9-cis isomer (9-cis-RA) retinoic acids,beta subunit ,steroid/thyroid hormone receptor superfamily

Phenotypes From GWAS Catalog for RARB Gene

Gene Ontology (GO) - Molecular Function for RARB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding TAS 2153268
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with RARB: view
genes like me logo Genes that share phenotypes with RARB: view

Human Phenotype Ontology for RARB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RARB Gene

MGI Knock Outs for RARB:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RARB Gene

Localization for RARB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RARB Gene

Nucleus. Cytoplasm.
[Isoform Beta-1]: Nucleus.
[Isoform Beta-2]: Nucleus.
[Isoform Beta-4]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RARB gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RARB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 18845237
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with RARB: view

Pathways & Interactions for RARB Gene

genes like me logo Genes that share pathways with RARB: view

Pathways by source for RARB Gene

1 GeneGo (Thomson Reuters) pathway for RARB Gene
  • Transcription Sin3 and NuRD in transcription regulation
4 Qiagen pathways for RARB Gene
  • all-trans-Retinoic Acid Mediated Apoptosis
  • all-trans-Retinoic Acid Signaling in Brain
  • Molecular Mechanisms of Cancer
  • Nuclear Receptor Activation by Vitamin-A

SIGNOR curated interactions for RARB Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for RARB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001657 ureteric bud development IEA --
GO:0001889 liver development IBA 21873635
GO:0002068 glandular epithelial cell development IEA --
GO:0003148 outflow tract septum morphogenesis IEA --
genes like me logo Genes that share ontologies with RARB: view

Drugs & Compounds for RARB Gene

(76) Drugs for RARB Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adapalene Approved Pharma binder, Target, agonist RAR尾 and RAR纬 agonist 89
Tazarotene Approved, Investigational Pharma binder, Target, agonist Topical retinoid;antiproliferative;inducer of TIG3 tumor suppressor 48
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Antagonist, binder, Target 260
Acitretin Approved Pharma Target, agonist Metabolite of etretinate 31
Alitretinoin Approved, Investigational Pharma Agonist, agonist, Target 17

(32) Additional Compounds for RARB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
302-79-4
Liarozole dihydrochloride

(5) Tocris Compounds for RARB Gene

Compound Action Cas Number
EC 23 Synthetic retinoid; induces differentiation of stem cells 104561-41-3
Isotretinoin Endogenous agonist for retinoic acid receptors; inducer of neuronal differentiation 4759-48-2
Liarozole dihydrochloride Blocks retinoic acid metabolism
Retinoic acid Endogenous retinoic acid receptor agonist 302-79-4
TTNPB Retinoic acid analog; RAR agonist 71441-28-6

(25) ApexBio Compounds for RARB Gene

Compound Action Cas Number
AC 261066 Potent RARβ2 agonist 870773-76-5
AC 55649 RARβ2 agonist,potent and iso-form selective 59662-49-6
Acitretin Metabolite of etretinate 55079-83-9
Acitretin sodium 925701-88-8
Adapalene RAR尾 and RAR纬 agonist 106685-40-9
Adarotene Apoptosis inducer/DNA damage agent 496868-77-0
AGN 194310 pan-RAR antagonist 229961-45-9
AGN 195183 RARαagonist,potent and selective 191469-29-1
AGN 205327 Potent RARs agonist
BMS 453 RAR agonist 166977-43-1
BMS 493 Pan-RAR inverse agonist 215030-90-3
CD 2314 RARβ agonist,potent and selective 170355-37-0
CD 2665 Selective RARβ/γ antagonist 170355-78-9
Ch 55 110368-33-7
EC 23 104561-41-3
ER 50891 187400-85-7
Fenretinide Synthetic retinoid agonist 65646-68-6
LE 135 155877-83-1
MM 11253 345952-44-5
Palovarotene 410528-02-8
Talarozole Cytochrome P450 inhibitor 201410-53-9
Tazarotene Topical retinoid;antiproliferative;inducer of TIG3 tumor suppressor 118292-40-3
Tretinoin (Aberela) 302-79-4
TTNPB (Arotinoid Acid) Potent RAR agonist 71441-28-6
Vitamin A Acetate Unsaturated nutritional hydrocarbons 127-47-9
genes like me logo Genes that share compounds with RARB: view

Drug Products

Transcripts for RARB Gene

mRNA/cDNA for RARB Gene

8 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RARB Gene

No ASD Table

Relevant External Links for RARB Gene

GeneLoc Exon Structure for
RARB

Expression for RARB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RARB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RARB Gene

This gene is overexpressed in Placenta (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RARB Gene



Protein tissue co-expression partners for RARB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RARB

SOURCE GeneReport for Unigene cluster for RARB Gene:

Hs.654490

mRNA Expression by UniProt/SwissProt for RARB Gene:

P10826-RARB_HUMAN
Tissue specificity: Expressed in aortic endothelial cells (at protein level).

Evidence on tissue expression from TISSUES for RARB Gene

  • Liver(4.3)
  • Lung(2.4)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RARB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • aorta
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with RARB: view

No data available for mRNA differential expression in normal tissues for RARB Gene

Orthologs for RARB Gene

This gene was present in the common ancestor of animals.

Orthologs for RARB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RARB 31 30
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RARB 31 30
  • 96.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rarb 17 31 30
  • 91 (n)
rat
(Rattus norvegicus)
Mammalia Rarb 30
  • 90.77 (n)
cow
(Bos Taurus)
Mammalia RARB 31
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARB 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RARB 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RARB 31 30
  • 86.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RARB 31
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rarb 30
  • 81.28 (n)
Str.2838 30
African clawed frog
(Xenopus laevis)
Amphibia LOC397983 30
zebrafish
(Danio rerio)
Actinopterygii rarga 30
  • 68.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eip75B 32
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea sex-1 32
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8261 31
  • 40 (a)
OneToMany
Species where no ortholog for RARB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RARB Gene

ENSEMBL:
Gene Tree for RARB (if available)
TreeFam:
Gene Tree for RARB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RARB: view image

Paralogs for RARB Gene

(47) SIMAP similar genes for RARB Gene using alignment to 6 proteins:

  • RARB_HUMAN
  • D6RBI3_HUMAN
  • Q15299_HUMAN
  • Q5QHG3_HUMAN
  • Q6FHY0_HUMAN
  • Q86UC5_HUMAN
genes like me logo Genes that share paralogs with RARB: view

Variants for RARB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RARB Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
664808 Uncertain Significance: Microphthalmia, syndromic 12 25,593,567(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs1057524213 Uncertain Significance: not provided 25,428,879(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1131691740 Likely Pathogenic: not provided 25,596,429(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1387195672 Uncertain Significance: Microphthalmia, syndromic 12 25,501,285(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1553624279 Uncertain Significance: Microphthalmia, syndromic 12; not provided 25,501,284(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for RARB Gene

Structural Variations from Database of Genomic Variants (DGV) for RARB Gene

Variant ID Type Subtype PubMed ID
dgv4704n100 CNV loss 25217958
dgv4705n100 CNV gain 25217958
dgv4706n100 CNV gain 25217958
dgv4707n100 CNV loss 25217958
dgv767e201 CNV deletion 23290073
esv1074268 CNV insertion 17803354
esv2725051 CNV deletion 23290073
esv2725053 CNV deletion 23290073
esv2743257 CNV deletion 23290073
esv3307540 CNV mobile element insertion 20981092
esv3308202 CNV mobile element insertion 20981092
esv3322280 CNV insertion 20981092
esv3347567 CNV insertion 20981092
esv3357765 CNV insertion 20981092
esv3423309 CNV insertion 20981092
esv3450200 CNV insertion 20981092
esv3595598 CNV loss 21293372
esv3595600 CNV loss 21293372
esv3595604 CNV loss 21293372
esv3595607 CNV loss 21293372
esv3595608 CNV loss 21293372
esv3893676 CNV loss 25118596
nsv1013446 CNV loss 25217958
nsv1127946 CNV deletion 24896259
nsv1143047 CNV tandem duplication 24896259
nsv1160922 CNV duplication 26073780
nsv1160923 CNV deletion 26073780
nsv3735 CNV deletion 18451855
nsv508213 CNV deletion 20534489
nsv524030 CNV loss 19592680
nsv528280 CNV gain 19592680
nsv528608 CNV gain 19592680
nsv834645 CNV gain 17160897
nsv966997 CNV duplication 23825009

Variation tolerance for RARB Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RARB Gene

Human Gene Mutation Database (HGMD)
RARB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RARB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RARB Gene

Disorders for RARB Gene

MalaCards: The human disease database

(31) MalaCards diseases for RARB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 12
  • mcops12
microphthalmia, syndromic 9
  • pmd
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
chromosome 3p deletion
  • 3p- syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RARB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RARB_HUMAN
  • Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]: 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. {ECO:0000269 PubMed:24075189, ECO:0000269 PubMed:27120018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RARB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RARB: view

No data available for Genatlas for RARB Gene

Publications for RARB Gene

  1. Association analysis of retinoic acid receptor beta (RARbeta) gene with high myopia in Chinese subjects. (PMID: 20508731) Ding Y … Zhou X (Molecular vision 2010) 3 23 41 54
  2. Mouse and human retinoic acid receptor beta 2 promoters: sequence comparison and localization of retinoic acid responsiveness. (PMID: 1663808) Shen S … Kruijer W (DNA sequence : the journal of DNA sequencing and mapping 1991) 3 4 23 54
  3. The quaternary architecture of RARβ-RXRα heterodimer facilitates domain-domain signal transmission. (PMID: 29021580) Chandra V … Rastinejad F (Nature communications 2017) 3 4 54
  4. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. (PMID: 27120018) Srour M … Michaud JL (Human mutation 2016) 3 4 54
  5. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. (PMID: 24075189) Srour M … Michaud JL (American journal of human genetics 2013) 3 4 54

Products for RARB Gene

  • Boster Bio Antibodies for RARB
  • Boster Bio ELISA Kits for RARB

Sources for RARB Gene