RORB (RAR related orphan receptor B)

Gene

• Entrez ID: 6096
• Gene name: RAR related orphan receptor B
• Gene symbol: RORB
• Synonyms (NCBI Gene): EIG15, NR1F2, ROR-BETA, RORbeta, RZR-BETA, RZRB, bA133M9.1
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601972
• HGNC: 10259
• e!Ensembl: ENSG00000198963

Protein

• UniProt ID: 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

Pathways

KEGG:

Circadian rhythm

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Epilepsy	Likely pathogenic; Pathogenic	rs1563959514	RCV004798865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs149294914	RCV002274368	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC LARYNGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RORB-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	37734269	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25668517	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19839995, 25789810, 25989161	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	25789810		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28177907, 29455641		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23822714, 39193850	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29455641, 29904382		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35603384	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	36227956	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27352968, 28412756	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29904382		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	25668517	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27352968, 30102487	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30762474	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30762474	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30762474		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies Partial	Partial epilepsy	Pubtator	32162308	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24355400, 27352968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	25950944, 27352968, 32162308	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	27352968, 32162308	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	27352968	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	33540281	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	27352968		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	32162308	Associate	★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	38088023	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27352968	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28527573		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29904382		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28177907, 29455641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29455641, 29904382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	33345275	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28296937	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28296937		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	24355400		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29904382		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27352968		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36227956	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28177907		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19839995	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19839995	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	22538398		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36505439	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36311731	Associate	★☆☆☆☆ Found in Text Mining only