RARB (retinoic acid receptor beta)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5915
Gene name Retinoic acid receptor beta
Gene symbol RARB
Synonyms (NCBI Gene)
HAPMCOPS12NR1B2RARbetaRARbeta1RRB2
Chromosome 3
Chromosome location 3p24.2
Summary 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 biologi
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs397518481 C>G,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs397518482 ->TC Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs397518483 C>A,T Pathogenic-likely-pathogenic, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs869025221 G>C Likely-pathogenic Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs869025222 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
539
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (539)
miRTarBase ID miRNA Experiments Reference
MIRT004488 hsa-miR-16-2-3p qRT-PCRWestern blot 20309880
MIRT054823 hsa-miR-30c-5p qRT-PCRWestern blot 24623846
MIRT054823 hsa-miR-30c-5p Luciferase reporter assayqRT-PCRWestern blot 24623846
MIRT091667 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT091676 hsa-miR-497-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
FOXD3 Activation 23058321
HDAC1 Repression 14731134
JUN Activation 9377582
PPARG Activation 12839938
RARA Activation 10629091
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180220 9865 ENSG00000077092
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10826
Protein name Retinoic acid receptor beta (RAR-beta) (HBV-activated protein) (Nuclear receptor subfamily 1 group B member 2) (RAR-epsilon)
Protein 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
PDB 1HRA , 1XAP , 4DM6 , 4DM8 , 4JYG , 4JYH , 4JYI , 5UAN , 6SSQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 86 → 155 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 224 → 401 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in aortic endothelial cells (at protein level). {ECO:0000269|PubMed:28167758}.
Sequence 
MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPAT
IETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNM
IYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETSKQECTESYEM
TAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFSELATKCIIKIV
EFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNA
GFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALK
IYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGH
EPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ
Sequence length 455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Pathways in cancer
Small cell lung cancer
Non-small cell lung cancer
Gastric cancer 		  Nuclear Receptor transcription pathway
Signaling by Retinoic Acid
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital ocular coloboma Pathogenic rs2529826095 RCV002291335
Intellectual disability, autosomal dominant 48 Likely pathogenic; Pathogenic rs869025222, rs397518483 RCV003401096
RCV003398657
Microphthalmia Likely pathogenic; Pathogenic rs2529457082, rs2529761078, rs2529761251, rs2529826336 RCV002291332
RCV002291333
RCV002291334
RCV002291336
Microphthalmia, syndromic 12 Likely pathogenic; Pathogenic rs2125325458, rs869025222, rs869025221, rs1553637470, rs1575553528, rs1575553547, rs1701696937, rs397518481, rs397518482, rs397518483, rs1701834292, rs1701836507 RCV001823086
RCV000207485
RCV000207484
RCV000677694
RCV000984944
RCV002286796
RCV001089954
RCV000074410
RCV000074411
RCV000074412
RCV000074413
RCV001269468
RCV001880195
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs374770716 RCV005924235
RARB-related disorder Benign; Uncertain significance; Likely benign rs146757345, rs759370316, rs2470500964, rs1270694007, rs150640333, rs61733682, rs368432868, rs116825683, rs755865469 RCV003903412
RCV003416791
RCV003391284
RCV003914058
RCV003959795
RCV003980016
RCV003975492
RCV003978237
RCV003940532
Show/Hide Text Mining Associations (115)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15227730
Anophthalmia with pulmonary hypoplasia Associate 24075189
Anophthalmos Associate 24075189, 30880327
Arnold Chiari Malformation Associate 27120018
Arthritis Rheumatoid Associate 30251476
Atherosclerosis Associate 30251476
Autism Spectrum Disorder Associate 31209396
Brain Neoplasms Associate 24968695
Breast Neoplasms Associate 10364250, 10411930, 10734315, 12118004, 17611401, 17998817, 18381931, 19258476, 21837480, 22037257, 22714808, 22925694, 22986510, 24720764, 26407953
View all (9 more)
Breast Neoplasms Inhibit 25934412