Gene Gene information from NCBI Gene database.
Entrez ID 5914
Gene name Retinoic acid receptor alpha
Gene symbol RARA
Synonyms (NCBI Gene)
NR1B1RARRARalpha
Chromosome 17
Chromosome location 17q21.2
Summary 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.
2
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.
413
miRTarBase ID miRNA Experiments Reference
MIRT004389 hsa-miR-125a-5p MicroarrayNorthern 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 factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CRABP2 Activation 16166294
CREBBP Unknown 21110951
ESR1 Activation 9626663
JUN Repression 9377582
KLF4 Repression 19531492
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
138
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180240 9864 ENSG00000131759
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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 Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 7529139
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 8654368
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16273555, 8152281, 8392400
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 20362228, 24449212, 8194047
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 10221524
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10203104, 10330422, 10360373, 10373566, 10381496, 10397747, 10439807, 10498880, 10564584, 10597230, 10601023, 10669754, 10688654, 10702899, 10753851
View all (442 more)
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia CTD_human_DG 10742073, 14508522, 14706140, 16239915, 16788101, 16835227, 16891316, 16935935, 17294898, 17649720, 17712046, 19029980, 19035177, 19884644, 19887701
View all (8 more)
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia ORPHANET_DG 10942371
★☆☆☆☆
Found in Text Mining only
Acute promyelocytic leukemia Promyelocytic Leukemia Orphanet
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia LHGDN 11891284, 11929748, 12060771, 12505266, 16113082, 16728697, 18212063, 18636556, 19029980, 19100514
★☆☆☆☆
Found in Text Mining only