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

External Ids for RARB Gene

Previous GeneCards Identifiers for RARB Gene

  • GC03P025167
  • GC03P025066
  • GC03P025191
  • GC03P025192
  • GC03P025194
  • 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 Signaling by Retinoic Acid and Signaling by GPCR. 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

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 Pubs

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 250 +600.9 600937 8.6 ZNF600 JUND ZNF580 ZMYM3 ATF2 CEBPA ATF3 POLR2A CHD4 YY1 RARB RARB-AS1 piR-42491-151 TOP2B
GH03J024829 Promoter 1.1 EPDnew CraniofacialAtlas 250.7 -0.2 -211 0.8 ZNF600 ZNF10 ZIC2 ZNF623 CTCF REST ZNF561 ZNF785 ZNF202 ZBTB8A RARB HSALNG0024729 ENSG00000237838 THRB
GH03J025457 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 250 +628.7 628740 2 JUND ATF2 ZNF10 EP300 MAFF GATA2 JUN CREB1 ATF3 ZNF629 RARB piR-32214-479 HSALNG0024737-001 HSALNG0024737-002 TOP2B
GH03J024830 Promoter 0.8 CraniofacialAtlas 250.7 +0.7 689 0.6 ZIC2 ZBTB10 FEZF1 KLF9 SP2 ZBTB48 ZNF2 SP7 KLF1 ZBTB12 RARB HSALNG0024730 ENSG00000237838 TOP2B
GH03J025467 Promoter/Enhancer 0.5 EPDnew dbSUPER 250 +638.2 638179 0.1 RARB piR-32214-479 HSALNG0024737-001 HSALNG0024737-002 TOP2B
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr3:24,829,321-25,597,932
(GRCh38/hg38)
Size:
768,612 bases
Orientation:
Plus strand

Previous Assembly
chr3:24,870,812-25,639,423
(GRCh37/hg19 by Entrez Gene)
Size:
768,612 bases
Orientation:
Plus strand

chr3:25,215,823-25,639,423
(GRCh37/hg19 by Ensembl)
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

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

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:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding TAS 2153268
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0004879 nuclear receptor activity TAS,IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RARB

Clone products for research

  • Addgene plasmids for RARB

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 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 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:0000785 chromatin ISA --
GO:0005634 nucleus IDA 18845237
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
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:0002068 glandular epithelial cell development IEA --
GO:0003148 outflow tract septum morphogenesis IEA --
GO:0003417 growth plate cartilage development IEA --
genes like me logo Genes that share ontologies with RARB: view

Drugs & Compounds for RARB Gene

(73) 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 Target, agonist, binder RAR尾 and RAR纬 agonist 92
Tazarotene Approved, Investigational Pharma Target, agonist, binder Topical retinoid;antiproliferative;inducer of TIG3 tumor suppressor 51
Tretinoin Approved, Investigational Nutra Agonist, Target, binder 288
Acitretin Approved Pharma Target, agonist Metabolite of etretinate 33
Alitretinoin Approved, Investigational Pharma Agonist, Target 18

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
302-79-4
EC 23
104561-41-3
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

(22) 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
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
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 for research

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RARB

Clone products for research

  • Addgene plasmids for RARB

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(4.4)
  • Nervous system(2.5)
  • Kidney(2.3)
  • Thyroid gland(2.2)
  • Heart(2.2)
  • Muscle(2.2)
  • Lung(2.2)

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 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RARB 29 30
  • 96.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rarb 29 16 30
  • 91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rarb 29
  • 90.77 (n)
Cow
(Bos Taurus)
Mammalia RARB 30
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RARB 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RARB 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RARB 29 30
  • 86.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RARB 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rarb 29
  • 81.28 (n)
Str.2838 29
African clawed frog
(Xenopus laevis)
Amphibia LOC397983 29
Zebrafish
(Danio rerio)
Actinopterygii rarga 29
  • 68.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Eip75B 31
  • 32 (a)
Worm
(Caenorhabditis elegans)
Secernentea sex-1 31
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8261 30
  • 40 (a)
OneToMany
Species where no ortholog for RARB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for RARB

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
1035194 Uncertain Significance: Microphthalmia, syndromic 12 25,461,254(+) T/TC
NM_000965.5(RARB):c.224dup (p.Arg76fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
842240 Uncertain Significance: Microphthalmia, syndromic 12 25,593,557(+) G/T
NM_000965.4(RARB):c.841G>T (p.Asp281Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
862649 Uncertain Significance: Microphthalmia, syndromic 12 25,593,522(+) G/C
NM_000965.4(RARB):c.806G>C (p.Arg269Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
870386 Likely Pathogenic: Microphthalmia, syndromic 12 25,593,551(+) T/G
NM_000965.4(RARB):c.835T>G (p.Phe279Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
936633 Uncertain Significance: Microphthalmia, syndromic 12 25,593,552(+) T/C
NM_000965.5(RARB):c.836T>C (p.Phe279Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RARB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RARB

SNP Genotyping and Copy Number Assays for research

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

Disorders for RARB Gene

MalaCards: The human disease database

(28) MalaCards diseases for RARB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
microphthalmia, syndromic 12
  • mcops12
microphthalmia, syndromic 9
  • mcops9
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
microphthalmia
  • microphthalmos
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for RARB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for RARB Gene

Publications for RARB Gene

  1. 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 72
  2. 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 22 40
  3. Retinoic acid receptors beta and gamma do not repress, but instead activate target gene transcription in both the absence and presence of hormone ligand. (PMID: 12554770) Hauksdottir H … Privalsky ML (Molecular endocrinology (Baltimore, Md.) 2003) 3 4 22
  4. 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 22
  5. The quaternary architecture of RARβ-RXRα heterodimer facilitates domain-domain signal transmission. (PMID: 29021580) Chandra V … Rastinejad F (Nature communications 2017) 3 4

Products for RARB Gene

  • Addgene plasmids for RARB

Sources for RARB Gene