• Gene id: 4306

Gene Summary

• Gene Symbol: NR3C2   Gene   UCSC   Ensembl
• Aliases: MCR, MLR, MR, NR3C2VIT
• Gene name: nuclear receptor subfamily 3 group C member 2
• Alternate names: mineralocorticoid receptor, aldosterone receptor, mineralocorticoid receptor 1, mineralocorticoid receptor 2, mineralocorticoid receptor delta, nuclear receptor subfamily 3, group C, member 2 variant 3,
• Gene location: 4q31.23 (148444697: 148078763)     Exons: 11     NC_000004.12
• Gene summary(Entrez): This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elemen

Protein Summary

• Protein general information: P08235  
  • Name: Mineralocorticoid receptor (MR) (Nuclear receptor subfamily 3 group C member 2)
  • Length: 984  
  • Mass: 107082
  • Tissue specificity: Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes. {ECO
• Sequence:

  METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQ
  QDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHR
  PSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPV
  HSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP
  ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFP
  KTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPF
  PFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHY
  RIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS
  KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKS
  KKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIV
  YAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQ
  FLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI
  KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGN
  AKPLYFHRK

• Structural information:
  • Protein Domains: (726..96-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1Y9R 1YA3 2A3I 2AA2 2AA5 2AA6 2AA7 2AAX 2AB2 2ABI 2OAX 3VHU 3VHV 3WFF 3WFG 4PF3 4TNT 4UDA 4UDB 5HCV 5L7E 5L7G 5L7H 5MWP 5MWY 6GEV 6GG8 6GGG
  • PDBsum: 1Y9R 1YA3 2A3I 2AA2 2AA5 2AA6 2AA7 2AAX 2AB2 2ABI 2OAX 3VHU 3VHV 3WFF 3WFG 4PF3 4TNT 4UDA 4UDB 5HCV 5L7E 5L7G 5L7H 5MWP 5MWY 6GEV 6GG8 6GGG
  • STRING: ENSP00000350815
• Other Databases: GeneCards:  NR3C2  Malacards:  NR3C2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
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:0003700	DNA-binding transcription factor 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:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003707	steroid hormone receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
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:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Hypertension exacerbated in pregnancy	KEGG:H00603
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Hypertension exacerbated in pregnancy	KEGG:H00603
Pseudohypoaldosteronism type 1	PMID:9662404
Pseudohypoaldosteronism	PMID:16972228
Cryptorchidism	MIK: 28606200

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