Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6096
Gene name	RAR related orphan receptor B
Gene symbol	RORB
Synonyms (NCBI Gene)	EIG15NR1F2ROR-BETARORbetaRZR-BETARZRBbA133M9.1
Chromosome	9
Chromosome location	9q21.13
Summary	The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of th

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Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018866	hsa-miR-335-5p	Microarray	18185580
MIRT030014	hsa-miR-26b-5p	Microarray	19088304
MIRT673000	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT672999	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT672998	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT654163	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654162	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654161	hsa-miR-4282	HITS-CLIP	23824327
MIRT654160	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT654159	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT654158	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT654157	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT654156	hsa-miR-623	HITS-CLIP	23824327
MIRT654163	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654162	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654161	hsa-miR-4282	HITS-CLIP	23824327
MIRT654160	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT654159	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT654158	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT654157	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT654156	hsa-miR-623	HITS-CLIP	23824327
MIRT654155	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT654154	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT654153	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT673000	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT672999	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT672998	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT654163	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654162	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654161	hsa-miR-4282	HITS-CLIP	23824327
MIRT654160	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT654159	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT654158	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT654157	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT654156	hsa-miR-623	HITS-CLIP	23824327
MIRT654163	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654162	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654161	hsa-miR-4282	HITS-CLIP	23824327
MIRT654160	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT654159	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT654158	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT654157	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT654156	hsa-miR-623	HITS-CLIP	23824327
MIRT654155	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT654154	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT654153	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT1315250	hsa-miR-1197	CLIP-seq
MIRT1315251	hsa-miR-1255a	CLIP-seq
MIRT1315252	hsa-miR-1255b	CLIP-seq
MIRT1315253	hsa-miR-137	CLIP-seq
MIRT1315254	hsa-miR-142-5p	CLIP-seq
MIRT1315255	hsa-miR-181a	CLIP-seq
MIRT1315256	hsa-miR-181b	CLIP-seq
MIRT1315257	hsa-miR-181c	CLIP-seq
MIRT1315258	hsa-miR-181d	CLIP-seq
MIRT1315259	hsa-miR-186	CLIP-seq
MIRT1315260	hsa-miR-3064-3p	CLIP-seq
MIRT1315261	hsa-miR-3133	CLIP-seq
MIRT1315262	hsa-miR-3171	CLIP-seq
MIRT1315263	hsa-miR-323-3p	CLIP-seq
MIRT1315264	hsa-miR-340	CLIP-seq
MIRT1315265	hsa-miR-4252	CLIP-seq
MIRT1315266	hsa-miR-4262	CLIP-seq
MIRT1315267	hsa-miR-4436a	CLIP-seq
MIRT1315268	hsa-miR-448	CLIP-seq
MIRT1315269	hsa-miR-4514	CLIP-seq
MIRT1315270	hsa-miR-4517	CLIP-seq
MIRT1315271	hsa-miR-4633-5p	CLIP-seq
MIRT1315272	hsa-miR-4692	CLIP-seq
MIRT1315273	hsa-miR-4694-3p	CLIP-seq
MIRT1315274	hsa-miR-4699-3p	CLIP-seq
MIRT1315275	hsa-miR-4715-3p	CLIP-seq
MIRT1315276	hsa-miR-522	CLIP-seq
MIRT1315277	hsa-miR-532-5p	CLIP-seq
MIRT1315278	hsa-miR-548g	CLIP-seq
MIRT1315279	hsa-miR-665	CLIP-seq
MIRT2093779	hsa-miR-376c	CLIP-seq
MIRT1315270	hsa-miR-4517	CLIP-seq
MIRT2318182	hsa-miR-3136-5p	CLIP-seq
MIRT2318183	hsa-miR-3140-3p	CLIP-seq
MIRT2318184	hsa-miR-376a	CLIP-seq
MIRT2318185	hsa-miR-376b	CLIP-seq
MIRT2318186	hsa-miR-4293	CLIP-seq
MIRT2318187	hsa-miR-4439	CLIP-seq
MIRT2318188	hsa-miR-4513	CLIP-seq
MIRT2458528	hsa-miR-1264	CLIP-seq
MIRT2458529	hsa-miR-133a	CLIP-seq
MIRT2458530	hsa-miR-133b	CLIP-seq
MIRT2458531	hsa-miR-3200-3p	CLIP-seq
MIRT2458532	hsa-miR-3613-3p	CLIP-seq
MIRT2458533	hsa-miR-432	CLIP-seq
MIRT2458534	hsa-miR-4535	CLIP-seq
MIRT2458535	hsa-miR-4776-5p	CLIP-seq
MIRT2458536	hsa-miR-492	CLIP-seq
MIRT2458528	hsa-miR-1264	CLIP-seq
MIRT2458529	hsa-miR-133a	CLIP-seq
MIRT2458530	hsa-miR-133b	CLIP-seq
MIRT2458531	hsa-miR-3200-3p	CLIP-seq
MIRT2458532	hsa-miR-3613-3p	CLIP-seq
MIRT2458533	hsa-miR-432	CLIP-seq
MIRT2458534	hsa-miR-4535	CLIP-seq
MIRT2458535	hsa-miR-4776-5p	CLIP-seq
MIRT2458536	hsa-miR-492	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	7935491
GO:0005515	Function	Protein binding	IPI	23555304, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA	27352968
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7935491
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008502	Function	Melatonin receptor activity	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0035881	Process	Amacrine cell differentiation	ISS
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046548	Process	Retinal rod cell development	ISS
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046549	Process	Retinal cone cell development	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601972	10259	ENSG00000198963

Q92753

Protein name

Nuclear receptor ROR-beta (Nuclear receptor RZR-beta) (Nuclear receptor subfamily 1 group F member 2) (Retinoid-related orphan receptor-beta)

Protein function

Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural li

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	19 → 88	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	259 → 443	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MCENQLKTKADATAQIEVIPCKICGDKSSGIHYGVITCEGCKGFFRRSQQNNASYSCPRQ
RNCLIDRTNRNRCQHCRLQKCLALGMSRDAVKFGRMSKKQRDSLYAEVQKHQQRLQEQRQ
QQSGEAEALARVYSSSISNGLSNLNNETSGTYANGHVIDLPKSEGYYNVDSGQPSPDQSG
LDMTGIKQIKQEPIYDLTSVPNLFTYSSFNNGQLAPGITMTEIDRIAQNIIKSHLETCQY
TMEELHQLAWQTHTYEEIKAYQSKSREALWQQCAIQITHAIQYVVEFAKRITGFMELCQN
DQILLLKSGCLEVVLVRMCRAFNPLNNTVLFEGKYGGMQMFKALGSDDLVNEAFDFAKNL
CSLQLTEEEIALFSSAVLISPDRAWLIEPRKVQKLQEKIYFALQHVIQKNHLDDETLAKL
IAKIPTITAVCNLHGEKLQVFKQSHPEIVNTLFPPLYKELFNPDCATGCK

Sequence length

470

Interactions

View interactions

	KEGG
	Circadian rhythm

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy	Likely pathogenic; Pathogenic	rs1563959514	RCV004798865
Epilepsy, idiopathic generalized, susceptibility to, 15	Pathogenic; Likely pathogenic	rs2118433425, rs2118433023, rs2118545880, rs2489566956, rs869312971, rs869312972, rs2489639626, rs1563959514, rs1587393982, rs1587401875, rs1824250656	RCV001789611 RCV002244167 RCV002251229 RCV002289195 RCV000761192 RCV000761193 RCV003227555 RCV000761191 RCV000851311 RCV000995858 RCV001261198
Neurodevelopmental delay	Pathogenic	rs149294914	RCV002274368

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
RORB-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs138573421, rs138081728, rs146275488, rs138739090, rs2489648663, rs2489621781, rs1360780761, rs138614785, rs41307459	RCV003950868 RCV003911225 RCV003951300 RCV003958739 RCV003410367 RCV003422476 RCV003917370 RCV003935904 RCV004753144
Seizure	Conflicting classifications of pathogenicity	rs144622748, rs2489648663, rs2489648843	RCV002275256 RCV003384295 RCV004557253

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	37734269
Autistic Disorder	Associate	25668517
Bipolar Disorder	Associate	19839995, 25789810, 25989161
Breast Neoplasms	Associate	23822714, 39193850
Carcinoma Squamous Cell	Associate	35603384
Cartilage Diseases	Associate	36227956
Chromosome 9 duplication 9q21	Associate	37239476
Cognition Disorders	Associate	27352968, 28412756
Cytomegalovirus Infections	Associate	33432193
Depressive Disorder	Associate	25668517
Dermatitis Exfoliative	Associate	25950944
Developmental Disabilities	Associate	27352968, 30102487
Diabetes Mellitus	Inhibit	30762474
Diabetes Mellitus Type 2	Associate	30762474
Encephalitis Viral	Associate	37734269
Epilepsies Partial	Associate	32162308
Epilepsy	Associate	25950944, 27352968, 32162308
Epilepsy Absence	Associate	27352968, 32162308
Epilepsy Generalized	Associate	27352968
Epilepsy Idiopathic Generalized	Associate	33540281
Epilepsy Reflex	Associate	32162308
Epileptic Encephalopathy Early Infantile 3	Associate	32162308
Eyelid Diseases	Associate	38088023
Hyperglycemic Hyperosmolar Nonketotic Coma	Inhibit	30762474
Intellectual Disability	Associate	27352968
Islet cell tumor syndrome	Associate	30762474
Medulloblastoma	Associate	33345275
Mental Disorders	Associate	25950944
Metabolic Syndrome	Associate	28296937
Osteoarthritis	Inhibit	36227956
Plaque Atherosclerotic	Associate	34082770
Psychotic Disorders	Associate	19839995
Schizophrenia	Associate	19839995
Squamous Cell Carcinoma of Head and Neck	Associate	36505439
Uveal melanoma	Associate	36311731

RORB (RAR related orphan receptor B)