Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5914
Gene name Gene Name - the full gene name approved by the HGNC.
Retinoic acid receptor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RARA
Synonyms (NCBI Gene) Gene synonyms aliases
NR1B1, RAR, RARalpha
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205678 C>T Drug-response Missense variant, coding sequence variant
rs1555574254 TCATCCAGGAAATGTTGGAGAACTCAGAGGGCCTGGACACTCTGAGCGGACAGCCGGGGGGTGGGGGGCGGGACGGGGGTGGCCTGGCCCCCCCGCCAGGCAGCTGTAGCCCCAGCCTCAGCCCCAGCTCCAACAGAAGCAGCCCGGCCACCCACTCCCCGTGAC>- Drug-response Terminator codon variant, 3 prime UTR variant, stop lost, inframe indel
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004389 hsa-miR-125a-5p Microarray, Northern blot 16331254
MIRT024237 hsa-miR-218-5p Sequencing 20371350
MIRT045829 hsa-miR-138-5p CLASH 23622248
MIRT039873 hsa-miR-615-3p CLASH 23622248
MIRT469581 hsa-miR-3714 PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
CRABP2 Activation 16166294
CREBBP Unknown 21110951
ESR1 Activation 9626663
JUN Repression 9377582
KLF4 Repression 19531492
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IDA 2825025
GO:0000785 Component Chromatin IDA 17363140, 21131358
GO:0000785 Component Chromatin ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180240 9864 ENSG00000131759
Protein
UniProt ID P10276
Protein name Retinoic acid receptor alpha (RAR-alpha) (Nuclear receptor subfamily 1 group B member 1)
Protein function Receptor for retinoic acid (PubMed:16417524, PubMed:19850744, PubMed:20215566, PubMed:21152046, PubMed:37478846). Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis ret
PDB 1DKF , 1DSZ , 3A9E , 3KMR , 3KMZ , 4DQM , 5K13 , 6XWG , 7AOS , 7APO , 7QAA , 7WQQ , 9GFE , 9GFI
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 monocytes. {ECO:0000269|PubMed:26463675}.
Sequence
MASNSSSCPTPGGGHLNGYPVPPYAFFFPPMLGGLSPPGALTTLQHQLPVSGYSTPSPAT
IETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNM
VYTCHRDKNCIINKVTRNRCQYCRLQKCFEVGMSK
ESVRNDRNKKKKEVPKPECSESYTL
TPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDLWDKFSELSTKCIIKTV
EFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNA
GFGPLTDLVFAFANQLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALK
VYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKME
IPGSMPPLIQEMLENSEGL
DTLSGQPGGGGRDGGGLAPPPGSCSPSLSPSSNRSSPATHSP
Sequence length 462
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Glioblastoma Glioblastoma N/A N/A GWAS
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome N/A N/A GenCC
Promyelocytic Leukemia acute promyelocytic leukemia N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 16575387
Acute erythroleukemia Associate 11552979
Adenocarcinoma Associate 19670330, 8398710, 9708807
Alzheimer Disease Associate 29848990
Anorchia Associate 26431381
Arnold Chiari Malformation Associate 23437350
Arthritis Rheumatoid Associate 24089231
Atherosclerosis Associate 19628791
Autoimmune Diseases Associate 37597518
Blood Coagulation Disorders Associate 1317727, 20133705