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
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.
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
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 (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
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 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital ocular coloboma Pathogenic rs2529826095 RCV002291335
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 48 Likely pathogenic; Pathogenic rs869025222, rs397518483 RCV003401096
RCV003398657
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia Likely pathogenic; Pathogenic rs2529457082, rs2529761078, rs2529761251, rs2529826336 RCV002291332
RCV002291333
RCV002291334
RCV002291336
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia, syndromic 12 Likely pathogenic; Pathogenic rs2125325458, rs869025222, rs869025221, rs1553637470, rs1575553528, rs1575553547, rs1701696937, rs397518481, rs397518482, rs397518483, rs1701834292, rs1701836507 RCV001823086
RCV000207485
RCV000207484
RCV000677694
RCV000984944
View all (8 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (47)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA WITH PULMONARY HYPOPLASIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (283)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 29921692, 30575821, 8801177
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 14656941
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21494759, 27103788, 28008143
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 28557546
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 14656941
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 14656941
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 14656941
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23639973
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 15042681, 15481085, 20572039, 22992440, 24296317
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 24903973
★★★★★
★☆☆☆☆
Found in Text Mining only