• Gene id: 2908

Gene Summary

• Gene Symbol: NR3C1   Gene   UCSC   Ensembl
• Aliases: GCCR, GCR, GCRST, GR, GRL
• Gene name: nuclear receptor subfamily 3 group C member 1
• Alternate names: glucocorticoid receptor, glucocorticoid nuclear receptor variant 1, nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor),
• Gene location: 5q31.3 (31660899: 31639027)     Exons: 31     NC_000006.12
• Gene summary(Entrez): This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other tr
• OMIM: 138040

SNPs

rs852977

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.143307929A>G
NC_000005.9   g.142687494A>G
NG_009062.1   g.132584T>C|SEQ=[A/G]|GENE=NR3C1

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

Protein Summary

• Protein general information: P04150  
  • Name: Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)
  • Length: 777  
  • Mass: 85,659
• Sequence:

  MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQ
  PDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAA
  PTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLL
  SPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTV
  YCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNL
  TSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVE
  GQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATL
  PQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSW
  MFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSV
  PKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFP
  EMLAEIITNQIPKYSNGNIKKLLFHQK

• Structural information:
  • Protein Domains: NR (524-758)
  • Interpro: IPR001409  IPR035500  IPR000536  IPR001723  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1M2Z 1NHZ 1P93 3BQD 3CLD 3E7C 3H52 3K22 3K23 4CSJ 4HN5 4HN6 4LSJ 4MDD 4P6W 4P6X 4UDC 4UDD 5CBX 5CBY 5CBZ 5CC1 5E69 5E6A 5E6B 5E6C 5E6D 5EMC 5EMP 5EMQ 5G3J 5G5W 5NFP 5NFT 5UC3 5VA0 5VA7
  • PDBsum: 1M2Z 1NHZ 1P93 3BQD 3CLD 3E7C 3H52 3K22 3K23 4CSJ 4HN5 4HN6 4LSJ 4MDD 4P6W 4P6X 4UDC 4UDD 5CBX 5CBY 5CBZ 5CC1 5E69 5E6A 5E6B 5E6C 5E6D 5EMC 5EMP 5EMQ 5G3J 5G5W 5NFP 5NFT 5UC3 5VA0 5VA7
  • DIP: 576
  • STRING: ENSP00000231509
• Other Databases: GeneCards:  NR3C1  Malacards:  NR3C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004883	glucocorticoid receptor activity	TAS	molecular function
GO:0005496	steroid binding	IDA	molecular function
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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0038051	glucocorticoid-activated RNA polymerase II transcription factor binding transcription factor activity	IDA	molecular function
GO:0042921	glucocorticoid receptor signaling pathway	IEA	biological process
GO:0043402	glucocorticoid mediated signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0051301	cell division	IEA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:1990239	steroid hormone binding	IDA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004883	glucocorticoid receptor activity	IEA	molecular function
GO:0004883	glucocorticoid receptor activity	TAS	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005496	steroid binding	IDA	molecular function
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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0038051	glucocorticoid-activated RNA polymerase II transcription factor binding transcription factor activity	IDA	molecular function
GO:0042921	glucocorticoid receptor signaling pathway	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043402	glucocorticoid mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:1990239	steroid hormone binding	IDA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0004883	glucocorticoid receptor activity	TAS	molecular function
GO:0005496	steroid binding	IDA	molecular function
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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0038051	glucocorticoid-activated RNA polymerase II transcription factor binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:1990239	steroid hormone binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Cancer	GAD: 20015871
Cancer (Adenoma)	GAD: 19207316
Cancer (colorectal)	GAD: 18510611
Cancer (glaucoma)	GAD: 20376328
Cancer (leukemia)	GAD: 20015871
Cancer (lymphoma)	GAD: 18636124
Cancer (non-melanoma skin cancer)	GAD: 17392827
Cancer (prostate)	GAD: 16638864
Cancer (breast)	GAD: 17522428
Hypertension	GAD: 11711524
Atherosclerosis	GAD: 11711524
Cerebral infarction	GAD: 11711524
Cardiovascular disease	GAD: 11711524
Atherosclerosis	GAD: 12623935
Blood pressure	GAD: 18854398
Cardiovascular disease	GAD: 12623935
Cerebral infarction	GAD: 12903052
Primary ciliary dyskinesia	KEGG: H00564
Cystic fibrosis	GAD: 18047640
Hyperandrogenism	GAD: 11287026
Cleft defects	GAD: 20634891
Graves disease	GAD: PMID
Addison's disease	GAD: 19282465
Retinal diseases	GAD: 19005987
Rheumatoid arthritis	GAD: 18830906
Multiple sclerosis	GAD: 19318444
Systemic lupus erythematosus (SLE)	GAD: 15212141
Inflammatory bowel disease	GAD: 20697295
Asthma	GAD: 15497438
Asthma	GAD: 11739132
Celiac disease	GAD: 15713213
Chronic ulcerative colitis	GAD: 20712049
Crohn's disease	GAD: 19429432
Stress	GAD: 14764763
Obesity	GAD: 11571596
Metabolic syndrome	GAD: 16855182
Obesity	GAD: 16855182
Obesity	GAD: 12843156
Hypercholesterolemia	GAD: 20602615
Adiposity	GAD: 11571596
Diabetes	GAD: 12805402
Insulin resistance	GAD: 16684836
Osteoporosis	GAD: 15698551
Bone diseases	GAD: 19453261
Nelson's syndrome	GAD: 8550738
Myasthenia gravis	GAD: 20137628
Guillain-Barre syndrome	GAD: 19691529
Chronic fatigue syndrome	GAD: 16610949
Mood disorders	GAD: 19089807
Depression	GAD: 11711524
Schizophrenia	GAD: 18838498
Psychological disorders	GAD: 19086053
Psychological disorders	GAD: 14764763
Several psychiatric disorders	GAD: 19086053
Bipolar disorder	GAD: 19133972
Cognitive function	GAD: 17133261
Depression	GAD: 17133261
Depression	GAD: 19051288
Kidney diseases	GAD: 19578796
Chronic kidney failure	GAD: 19578796
Chronic renal failure	GAD: 21085059
Precocious puberty	GAD: 16648810
Precocious puberty	GAD: 11287026
Recurrent pregnancy loss (RPL)	INFBASE: 20716560
Polycystic ovary syndrome (PCOS)	INFBASE: 22068557
Male factor infertility	MIK: PMID
Non obstructive azoospermia	MIK: 26556219
Abortion	GAD: 20716560
Adrenal androgen excess	GAD: 11119758
Congenital adrenal hyperplasia	GAD: 19174530
Congenital adrenal hyperplasia	GAD: 19174530
Endometriosis	INFBASE: 20199104
Female pseudohermaphroditism	INFBASE: 11932321
HELLP Syndrome	GAD: 19336230
Chronic obstructive pulmonary disease (COPD)	GAD: 20156759
Connective tissue diseases	GAD: 19527514
Connective tissue diseases	GAD: 19527514
Glucocorticoid resistance	KEGG: H01702
Glucocorticoid-induced osteonecrosis	KEGG: H01709
Proteinuria	GAD: 18343955
Nephrotic syndrome	GAD: 14733805
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26027266
Non-obstructive azoospermia (NOA)	MIK: 26556219
Male infertility	MIK: 26556219
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26027266	Male infertility			90 (60 men with infertility were examined--30 with normal weight and 30 with overweight), 30fertile men)	Male infertility	GSH GR GPO GST
26556219	Non-obstructive azoospermia (NOA), Male infertility	rs852977	Japanes e	745 (335 men with NOA and 410 healthy controls)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881