RARB (retinoic acid receptor beta)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5915
Gene name Gene Name - the full gene name approved by the HGNC.
Retinoic acid receptor beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RARB
Synonyms (NCBI Gene) Gene synonyms aliases
HAP, MCOPS12, NR1B2, RARbeta, RARbeta1, RRB2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.2
Summary Summary of gene provided in NCBI Entrez 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 biologi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
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.
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-PCR, Western blot 20309880
MIRT054823 hsa-miR-30c-5p qRT-PCR, Western blot 24623846
MIRT054823 hsa-miR-30c-5p Luciferase reporter assay, qRT-PCR, Western blot 24623846
MIRT091667 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT091676 hsa-miR-497-5p PAR-CLIP 20371350
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
Transcription factor Regulation Reference
FOXD3 Activation 23058321
HDAC1 Repression 14731134
JUN Activation 9377582
PPARG Activation 12839938
RARA Activation 10629091
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(59)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180220 9865 ENSG00000077092
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Syndromic microphthalmia microphthalmia, syndromic 12 rs1575553547, rs397518481, rs1701696937, rs397518482, rs397518483, rs869025222, rs869025221, rs1553637470, rs1575553528 N/A
Mental retardation Intellectual disability, autosomal dominant 48 rs397518483, rs869025222 N/A
Show/Hide Unknown Diseases (13)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Crohn Disease Crohn's disease (time to first abdominal surgery) N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Show/Hide Text Mining Associations (115)
Associations from Text Mining Disease 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