Gene Gene information from NCBI Gene database.
Entrez ID 6256
Gene name Retinoid X receptor alpha
Gene symbol RXRA
Synonyms (NCBI Gene)
NR2B1RXR-alphaRXRalpha
Chromosome 9
Chromosome location 9q34.2
Summary Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by bind
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1057519958 C>A,T Likely-pathogenic Coding sequence variant, missense variant
rs1588299621 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
703
miRTarBase ID miRNA Experiments Reference
MIRT042547 hsa-miR-423-3p CLASH 23622248
MIRT054229 hsa-miR-128-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23990020
MIRT054351 hsa-miR-574-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23626837
MIRT617638 hsa-miR-6782-3p HITS-CLIP 23824327
MIRT617637 hsa-miR-488-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR1I2 Unknown 21295138
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
81
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17426122
GO:0000785 Component Chromatin IDA 9267036
GO:0000785 Component Chromatin IDA 18511497, 25592151
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18511497
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180245 10477 ENSG00000186350
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19793
Protein name Retinoic acid receptor RXR-alpha (Nuclear receptor subfamily 2 group B member 1) (Retinoid X receptor alpha)
Protein function Receptor for retinoic acid that acts as a transcription factor (PubMed:10874028, PubMed:11162439, PubMed:11915042, PubMed:37478846). Forms homo- or heterodimers with retinoic acid receptors (RARs) and binds to target response elements in respons
PDB 1BY4 , 1DSZ , 1FBY , 1FM6 , 1FM9 , 1G1U , 1G5Y , 1K74 , 1MV9 , 1MVC , 1MZN , 1R0N , 1RDT , 1RXR , 1XLS , 1XV9 , 1XVP , 1YNW , 2ACL , 2NLL , 2P1T , 2P1U , 2P1V , 2ZXZ , 2ZY0 , 3DZU , 3DZY , 3E00 , 3E94 , 3FAL , 3FC6 , 3FUG , 3H0A , 3KWY , 3NSP , 3NSQ , 3OAP , 3OZJ , 3PCU , 3R29 , 3R2A , 3R5M , 3UVV , 4CN2 , 4CN3 , 4CN5 , 4CN7 , 4J5W , 4J5X , 4K4J , 4K6I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11825 Nuc_recep-AF1 17 127 Nuclear/hormone receptor activator site AF-1 Family
PF00105 zf-C4 133 202 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 257 442 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lung fibroblasts (at protein level) (PubMed:30216632). Expressed in monocytes (PubMed:26463675). Highly expressed in liver, also found in kidney and brain (PubMed:14702039, PubMed:2159111, PubMed:24275569). {ECO:0000269|Pu
Sequence
Sequence length 462
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs1588299621 RCV000984088
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 24368200
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15121864, 18408763, 25510432
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15006913
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23639973
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19374686 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26026644, 26080426, 29995422
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only