• Gene id: 5915

Gene Summary

• Gene Symbol: RARB   Gene   UCSC   Ensembl
• Aliases: HAP, MCOPS12, NR1B2, RARbeta1, RRB2
• Gene name: retinoic acid receptor beta
• Alternate names: retinoic acid receptor beta, HBV-activated protein, RAR-beta, RAR-epsilon, hepatitis B virus activated protein, nuclear receptor subfamily 1 group B member 2, retinoic acid receptor, beta polypeptide,
• Gene location: 3p24.2 (24829322: 25597931)     Exons: 14     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 180220

Protein Summary

• Protein general information: P10826  
  • Name: Retinoic acid receptor beta (RAR beta) (HBV activated protein) (Nuclear receptor subfamily 1 group B member 2) (RAR epsilon)
  • Length: 455  
  • Mass: 50489
  • Tissue specificity: Expressed in aortic endothelial cells (at protein level). {ECO
• Sequence:

  MTTSGHACPVPAVNGHMTHYPATPYPLLFPPVIGGLSLPPLHGLHGHPPPSGCSTPSPATIETQSTSSEELVPSP
  PSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFE
  VGMSKESVRNDRNKKKKETSKQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLW
  DKFSELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNA
  GFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTKVDKLQEPLLEALKIYIRKRRPSKPHMFP
  KILMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQ
  SPLVQ

• Structural information:
  • Protein Domains: (183..41-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR003078  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1HRA 1XAP 4DM6 4DM8 4JYG 4JYH 4JYI 5UAN 6SSQ
  • PDBsum: 1HRA 1XAP 4DM6 4DM8 4JYG 4JYH 4JYI 5UAN 6SSQ
  • STRING: ENSP00000332296
• Other Databases: GeneCards:  RARB  Malacards:  RARB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IBA	biological process
GO:0004879	nuclear receptor activity	IBA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0048566	embryonic digestive tract development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0004879	nuclear receptor activity	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0021756	striatum development	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043068	positive regulation of programmed cell death	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0002068	glandular epithelial cell development	IEA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0031641	regulation of myelination	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0046965	retinoid X receptor binding	IEA	molecular function
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05226	Gastric cancer
hsa05222	Small cell lung cancer
hsa05223	Non-small cell lung cancer

Diseases

Associated diseases	References
Gastric cancer	KEGG:H00018
Microphthalmia, syndromic	KEGG:H02170
Non-small cell lung cancer	KEGG:H00014
Small cell lung cancer	KEGG:H00013
Gastric cancer	KEGG:H00018
Microphthalmia, syndromic	KEGG:H02170
Non-small cell lung cancer	KEGG:H00014
Small cell lung cancer	KEGG:H00013
lung non-small cell carcinoma	PMID:23599765
lung non-small cell carcinoma	PMID:18349282
lung adenocarcinoma	PMID:26695082
lung small cell carcinoma	PMID:29851970
asbestos-related lung carcinoma	PMID:28722770
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray