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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6097
Gene name	RAR related orphan receptor C
Gene symbol	RORC
Synonyms (NCBI Gene)	IMD42NR1F3RORGRZR-GAMMARZRGTOR
Chromosome	1
Chromosome location	1q21.3
Summary	The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774357869	G>A	Pathogenic	Coding sequence variant, missense variant
rs863225091	G>A	Pathogenic	Coding sequence variant, stop gained
rs863225092	G>A	Pathogenic	Coding sequence variant, stop gained

107

Show/Hide all (107)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007283	hsa-miR-30b-3p	Luciferase reporter assay	23359619
MIRT018972	hsa-miR-335-5p	Microarray	18185580
MIRT019468	hsa-miR-148b-3p	Microarray	17612493
MIRT030126	hsa-miR-26b-5p	Microarray	19088304
MIRT1315280	hsa-miR-106a	CLIP-seq
MIRT1315281	hsa-miR-106b	CLIP-seq
MIRT1315282	hsa-miR-1197	CLIP-seq
MIRT1315283	hsa-miR-1224-3p	CLIP-seq
MIRT1315284	hsa-miR-1260	CLIP-seq
MIRT1315285	hsa-miR-1260b	CLIP-seq
MIRT1315286	hsa-miR-1280	CLIP-seq
MIRT1315287	hsa-miR-17	CLIP-seq
MIRT1315288	hsa-miR-193a-5p	CLIP-seq
MIRT1315289	hsa-miR-20a	CLIP-seq
MIRT1315290	hsa-miR-20b	CLIP-seq
MIRT1315291	hsa-miR-3125	CLIP-seq
MIRT1315292	hsa-miR-3609	CLIP-seq
MIRT1315293	hsa-miR-3916	CLIP-seq
MIRT1315294	hsa-miR-3925-3p	CLIP-seq
MIRT1315295	hsa-miR-4710	CLIP-seq
MIRT1315296	hsa-miR-4753-3p	CLIP-seq
MIRT1315297	hsa-miR-4796-3p	CLIP-seq
MIRT1315298	hsa-miR-519a	CLIP-seq
MIRT1315299	hsa-miR-519b-3p	CLIP-seq
MIRT1315300	hsa-miR-519c-3p	CLIP-seq
MIRT1315301	hsa-miR-519d	CLIP-seq
MIRT1315302	hsa-miR-548ah	CLIP-seq
MIRT1315303	hsa-miR-605	CLIP-seq
MIRT1315304	hsa-miR-615-5p	CLIP-seq
MIRT1315305	hsa-miR-635	CLIP-seq
MIRT1315306	hsa-miR-766	CLIP-seq
MIRT1315307	hsa-miR-877	CLIP-seq
MIRT1315308	hsa-miR-93	CLIP-seq
MIRT1315309	hsa-miR-942	CLIP-seq
MIRT2093780	hsa-miR-1206	CLIP-seq
MIRT2093781	hsa-miR-1207-3p	CLIP-seq
MIRT2093782	hsa-miR-3921	CLIP-seq
MIRT2093783	hsa-miR-4653-5p	CLIP-seq
MIRT2093784	hsa-miR-4731-5p	CLIP-seq
MIRT1315280	hsa-miR-106a	CLIP-seq
MIRT1315281	hsa-miR-106b	CLIP-seq
MIRT2318189	hsa-miR-1237	CLIP-seq
MIRT2318190	hsa-miR-1246	CLIP-seq
MIRT2318191	hsa-miR-1248	CLIP-seq
MIRT1315287	hsa-miR-17	CLIP-seq
MIRT2318192	hsa-miR-1827	CLIP-seq
MIRT2318193	hsa-miR-186	CLIP-seq
MIRT1315289	hsa-miR-20a	CLIP-seq
MIRT1315290	hsa-miR-20b	CLIP-seq
MIRT2318194	hsa-miR-2115	CLIP-seq
MIRT2318195	hsa-miR-2467-3p	CLIP-seq
MIRT2318196	hsa-miR-3160-3p	CLIP-seq
MIRT2318197	hsa-miR-3192	CLIP-seq
MIRT2318198	hsa-miR-3201	CLIP-seq
MIRT2318199	hsa-miR-320a	CLIP-seq
MIRT2318200	hsa-miR-320b	CLIP-seq
MIRT2318201	hsa-miR-320c	CLIP-seq
MIRT2318202	hsa-miR-320d	CLIP-seq
MIRT1315292	hsa-miR-3609	CLIP-seq
MIRT2318203	hsa-miR-3622a-3p	CLIP-seq
MIRT2318204	hsa-miR-3622b-3p	CLIP-seq
MIRT2318205	hsa-miR-3689a-3p	CLIP-seq
MIRT2318206	hsa-miR-3689c	CLIP-seq
MIRT2318207	hsa-miR-3714	CLIP-seq
MIRT2093782	hsa-miR-3921	CLIP-seq
MIRT2318208	hsa-miR-4429	CLIP-seq
MIRT2318209	hsa-miR-4476	CLIP-seq
MIRT2318210	hsa-miR-4487	CLIP-seq
MIRT2318211	hsa-miR-4495	CLIP-seq
MIRT2093783	hsa-miR-4653-5p	CLIP-seq
MIRT2318212	hsa-miR-4663	CLIP-seq
MIRT2318213	hsa-miR-4686	CLIP-seq
MIRT2318214	hsa-miR-4711-3p	CLIP-seq
MIRT2318215	hsa-miR-4728-5p	CLIP-seq
MIRT2318216	hsa-miR-4791	CLIP-seq
MIRT1315297	hsa-miR-4796-3p	CLIP-seq
MIRT2318217	hsa-miR-502-5p	CLIP-seq
MIRT2318218	hsa-miR-5096	CLIP-seq
MIRT2318219	hsa-miR-515-5p	CLIP-seq
MIRT2318220	hsa-miR-516a-3p	CLIP-seq
MIRT1315298	hsa-miR-519a	CLIP-seq
MIRT1315299	hsa-miR-519b-3p	CLIP-seq
MIRT1315300	hsa-miR-519c-3p	CLIP-seq
MIRT1315301	hsa-miR-519d	CLIP-seq
MIRT1315302	hsa-miR-548ah	CLIP-seq
MIRT2318221	hsa-miR-558	CLIP-seq
MIRT2318222	hsa-miR-579	CLIP-seq
MIRT2318223	hsa-miR-593	CLIP-seq
MIRT2318224	hsa-miR-628-5p	CLIP-seq
MIRT2318225	hsa-miR-664	CLIP-seq
MIRT1315308	hsa-miR-93	CLIP-seq
MIRT1315283	hsa-miR-1224-3p	CLIP-seq
MIRT1315284	hsa-miR-1260	CLIP-seq
MIRT1315285	hsa-miR-1260b	CLIP-seq
MIRT1315286	hsa-miR-1280	CLIP-seq
MIRT2614045	hsa-miR-1252	CLIP-seq
MIRT2614046	hsa-miR-3153	CLIP-seq
MIRT2614047	hsa-miR-3611	CLIP-seq
MIRT2614048	hsa-miR-4455	CLIP-seq
MIRT2614049	hsa-miR-4668-5p	CLIP-seq
MIRT2614050	hsa-miR-609	CLIP-seq
MIRT2614045	hsa-miR-1252	CLIP-seq
MIRT2614046	hsa-miR-3153	CLIP-seq
MIRT2614047	hsa-miR-3611	CLIP-seq
MIRT2614048	hsa-miR-4455	CLIP-seq
MIRT2614049	hsa-miR-4668-5p	CLIP-seq
MIRT2614050	hsa-miR-609	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20427770
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	IDA	20427770
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	20427770
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	7811290
GO:0005515	Function	Protein binding	IPI	18368049, 20203100, 22170608, 23555304, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19965867
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006805	Process	Xenobiotic metabolic process	ISS
GO:0007623	Process	Circadian rhythm	IEA
GO:0008142	Function	Oxysterol binding	IBA
GO:0008142	Function	Oxysterol binding	IDA	19965867
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010906	Process	Regulation of glucose metabolic process	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019218	Process	Regulation of steroid metabolic process	ISS
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0036315	Process	Cellular response to sterol	IDA	19965867
GO:0042093	Process	T-helper cell differentiation	ISS
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045598	Process	Regulation of fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048535	Process	Lymph node development	ISS
GO:0048541	Process	Peyer's patch development	ISS
GO:0060612	Process	Adipose tissue development	ISS
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	ISS
GO:0072539	Process	T-helper 17 cell differentiation	ISS
GO:0098531	Function	Ligand-modulated transcription factor activity	IDA	19965867
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602943	10260	ENSG00000143365

P51449

Protein name

Nuclear receptor ROR-gamma (Nuclear receptor RZR-gamma) (Nuclear receptor subfamily 1 group F member 3) (RAR-related orphan receptor C) (Retinoid-related orphan receptor-gamma)

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. Key regulator of cellular differentiation, immunity, peripheral circadian r

PDB

3B0W , 3KYT , 3L0J , 3L0L , 4NB6 , 4NIE , 4QM0 , 4S14 , 4WLB , 4WPF , 4WQP , 4XT9 , 4YMQ , 4YPQ , 4ZJR , 4ZJW , 4ZOM , 5APH , 5APJ , 5APK , 5AYG , 5C4O , 5C4S , 5C4T , 5C4U , 5EJV , 5ETH , 5G42 , 5G43 , 5G44 , 5G45 , 5G46 , 5IXK , 5IZ0 , 5K38 , 5K3L , 5K3M , 5K3N , 5K6E , 5K74 , 5LWP , 5M96 , 5NI5 , 5NI7 , 5NI8 , 5NIB , 5NTI , 5NTK , 5NTN , 5NTP , 5NTQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	29 → 98	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	310 → 488	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is widely expressed in many tissues, including liver and adipose, and highly expressed in skeletal muscle. Isoform 2 is primarily expressed in immature thymocytes.

Sequence

MDRAPQRQHRASRELLAAKKTHTSQIEVIPCKICGDKSSGIHYGVITCEGCKGFFRRSQR
CNAAYSCTRQQNCPIDRTSRNRCQHCRLQKCLALGMSRDAVKFGRMSKKQRDSLHAEVQK
QLQQRQQQQQEPVVKTPPAGAQGADTLTYTLGLPDGQLPLGSSPDLPEASACPPGLLKAS
GSGPSYSNNLAKAGLNGASCHLEYSPERGKAEGRESFYSTGSQLTPDRCGLRFEEHRHPG
LGELGQGPDSYGSPSFRSTPEAPYASLTEIEHLVQSVCKSYRETCQLRLEDLLRQRSNIF
SREEVTGYQRKSMWEMWERCAHHLTEAIQYVVEFAKRLSGFMELCQNDQIVLLKAGAMEV
VLVRMCRAYNADNRTVFFEGKYGGMELFRALGCSELISSIFDFSHSLSALHFSEDEIALY
TALVLINAHRPGLQEKRKVEQLQYNLELAFHHHLCKTHRQSILAKLPPKGKLRSLCSQHV
ERLQIFQHLHPIVVQAAFPPLYKELFSTETESPVGLSK

Sequence length

518

Interactions

View interactions

	KEGG		Reactome
	Th17 cell differentiation Circadian rhythm Inflammatory bowel disease		Nuclear Receptor transcription pathway Interleukin-4 and Interleukin-13 signaling

275

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Likely pathogenic; Pathogenic	rs2101656625, rs774357869, rs863225091, rs863225092, rs1558164428, rs2525630257, rs1651702189	RCV001379824 RCV000201419 RCV000201359 RCV000201397 RCV003337837 RCV003592455 RCV003755902

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Benign	rs200531029	RCV005904418
Gastric cancer	Benign	rs200531029	RCV005904419
Lung cancer	Benign	rs200531029	RCV005904421
Ovarian serous cystadenocarcinoma	Benign	rs200531029	RCV005904420
RORC-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs199556058, rs201629576, rs1286576517, rs17582155, rs142141845, rs113195254, rs187005517, rs144826157, rs201629608, rs199968527	RCV003980433 RCV003921103 RCV003926676 RCV003925719 RCV004751673 RCV004751834 RCV003920555 RCV003920845 RCV003413895 RCV003414024

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36103249
Arthritis Psoriatic	Associate	20583102, 31677365
Arthritis Psoriatic	Stimulate	33452865
Arthritis Rheumatoid	Associate	20583102, 27043554
Arthritis Rheumatoid	Stimulate	25430993
Atherosclerosis	Associate	24845870
Autoimmune Diseases	Associate	27374490, 28493531, 34673799
Behcet Syndrome	Associate	25873156
Breast Neoplasms	Associate	12970465, 24911119, 37732365, 39193850
Carcinogenesis	Associate	27034171
Carcinoma Ductal	Associate	23529839
Carcinoma Renal Cell	Associate	33390778
Carcinoma Squamous Cell	Associate	35603384
Chorioamnionitis	Stimulate	27814345
Chronic Disease	Associate	27773939
Cleft Palate	Associate	26000313
Colitis Ulcerative	Associate	35665804, 38302916
Colorectal Neoplasms	Associate	33947261, 35137551, 36941538
Common Variable Immunodeficiency	Inhibit	29345621
Coronary Artery Disease	Stimulate	26830200
Crohn Disease	Associate	31191543
Diabetes Mellitus	Inhibit	30762474
Diabetes Mellitus Type 1	Inhibit	31299986
Diabetes Mellitus Type 1	Stimulate	35966054
Diabetes Mellitus Type 2	Associate	30762474
Drug Hypersensitivity	Associate	29091937, 34673799
Dystonic Disorders	Associate	31640787
Enterocolitis Necrotizing	Associate	24194940
Glioma	Associate	34681642
Graves Disease	Associate	33912135
Growth Hormone Secreting Pituitary Adenoma	Associate	23825587
Hallucinations	Associate	36180667
Hodgkin Disease	Associate	31924597
Hyperglycemic Hyperosmolar Nonketotic Coma	Inhibit	30762474
Infections	Inhibit	30303535
Inflammation	Associate	26830200, 34673799, 35665804
Inflammatory Bowel Diseases	Associate	34673799
Intellectual Disability	Associate	36180667
Islet cell tumor syndrome	Associate	30762474
Kidney Failure Chronic	Associate	40751815
Leukemia	Inhibit	30303535
Leukemia Lymphoma Adult T Cell	Inhibit	30303535
Leukemia Myeloid Acute	Associate	24473142
Lupus Erythematosus Systemic	Associate	24433387
Lupus Nephritis	Associate	36532018
Lymphoma Large Cell Anaplastic	Associate	29588546
Melanoma Cutaneous Malignant	Associate	37373286
Muscular Atrophy Spinal	Associate	34161763
Nasal Polyps	Associate	27166273, 31326962
Neoplasms	Associate	22315229, 23825587, 27034171, 34681642, 36834607
Neoplasms	Inhibit	31924597
Nose Diseases	Associate	23517389
Obesity	Associate	27773939, 30622974
Osteoarthritis	Associate	35887269
Ovarian Neoplasms	Associate	37196681
Pancreatic Neoplasms	Associate	32928922
Psoriasis	Associate	16374479
Psoriasis	Stimulate	33452865
Purpura Thrombocytopenic Idiopathic	Associate	21385171
Purpura Thrombocytopenic Idiopathic	Stimulate	25621490
Sjogren's Syndrome	Associate	28621822
Squamous Cell Carcinoma of Head and Neck	Associate	37373553
Uterine Cervical Neoplasms	Associate	26474968

RORC (RAR related orphan receptor C)