• Gene id: 6097

Gene Summary

• Gene Symbol: RORC   Gene   UCSC   Ensembl
• Aliases: IMD42, NR1F3, RORG, RZR-GAMMA, RZRG, TOR
• Gene name: RAR related orphan receptor C
• Alternate names: nuclear receptor ROR-gamma, RAR-related orphan nuclear receptor variant 2, RAR-related orphan receptor C, nuclear receptor RZR-gamma, nuclear receptor subfamily 1 group F member 3, retinoic acid-binding receptor gamma, retinoid-related orphan receptor gamma,
• Gene location: 1q21.3 (151832450: 151806070)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 179503

Protein Summary

• Protein general information: P51449  
  • 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)
  • Length: 518  
  • Mass: 58195
  • 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:

  MDRAPQRQHRASRELLAAKKTHTSQIEVIPCKICGDKSSGIHYGVITCEGCKGFFRRSQRCNAAYSCTRQQNCPI
  DRTSRNRCQHCRLQKCLALGMSRDAVKFGRMSKKQRDSLHAEVQKQLQQRQQQQQEPVVKTPPAGAQGADTLTYT
  LGLPDGQLPLGSSPDLPEASACPPGLLKASGSGPSYSNNLAKAGLNGASCHLEYSPERGKAEGRESFYSTGSQLT
  PDRCGLRFEEHRHPGLGELGQGPDSYGSPSFRSTPEAPYASLTEIEHLVQSVCKSYRETCQLRLEDLLRQRSNIF
  SREEVTGYQRKSMWEMWERCAHHLTEAIQYVVEFAKRLSGFMELCQNDQIVLLKAGAMEVVLVRMCRAYNADNRT
  VFFEGKYGGMELFRALGCSELISSIFDFSHSLSALHFSEDEIALYTALVLINAHRPGLQEKRKVEQLQYNLELAF
  HHHLCKTHRQSILAKLPPKGKLRSLCSQHVERLQIFQHLHPIVVQAAFPPLYKELFSTETESPVGLSK

• Structural information:
  • Protein Domains: (269..50-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR003079  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • 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 5NTW 5NU1 5UFO 5UFR 5UHI 5VB3 5VB5 5VB6 5VB7 5VQK 5VQL 5W4R 5W4
  • PDBsum: 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 5NTW 5NU1 5UFO 5UFR 5UHI 5VB3 5VB5 5VB6 5VB7 5VQK 5VQL 5W4R 5W4
  • DIP: 60622
  • STRING: ENSP00000327025
• Other Databases: GeneCards:  RORC  Malacards:  RORC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
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:0001223	transcription coactivator binding	IBA	molecular function
GO:0008142	oxysterol binding	IBA	molecular function
GO:0036315	cellular response to sterol	IDA	biological process
GO:0008142	oxysterol binding	IDA	molecular function
GO:0098531	ligand-activated transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0060850	regulation of transcription involved in cell fate commitment	ISS	biological process
GO:0060612	adipose tissue development	ISS	biological process
GO:0042753	positive regulation of circadian rhythm	ISS	biological process
GO:0006805	xenobiotic metabolic process	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072539	T-helper 17 cell differentiation	ISS	biological process
GO:0045598	regulation of fat cell differentiation	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0019218	regulation of steroid metabolic process	ISS	biological process
GO:0010906	regulation of glucose metabolic process	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0004879	nuclear receptor activity	TAS	molecular function
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:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007623	circadian rhythm	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04659	Th17 cell differentiation
hsa05321	Inflammatory bowel disease
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R