• Gene id: 115004

Gene Summary

• Gene Symbol: CGAS   Gene   UCSC   Ensembl
• Aliases: C6orf150, MB21D1, h-cGAS
• Gene name: cyclic GMP-AMP synthase
• Alternate names: cyclic GMP-AMP synthase, 2'3'-cGAMP synthase, Mab-21 domain containing 1, cGAMP synthase, mab-21 domain-containing protein 1, protein MB21D1,
• Gene location: 6q13 (73452296: 73423710)     Exons: 5     NC_000006.12

Protein Summary

• Protein general information: Q8N884  
  • Name: Cyclic GMP AMP synthase (cGAMP synthase) (cGAS) (h cGAS) (EC 2.7.7.86) (2'3' cGAMP synthase) (Mab 21 domain containing protein 1)
  • Length: 522  
  • Mass: 58814
  • Tissue specificity: Expressed in the monocytic cell line THP1. {ECO
• Sequence:

  MQPWHGKAMQRASEAGATAPKASARNARGAPMDPTESPAAPEAALPKAGKFGPARKSGSRQKKSAPDTQERPPVR
  ATGARAKKAPQRAQDTQPSDATSAPGAEGLEPPAAREPALSRAGSCRQRGARCSTKPRPPPGPWDVPSPGLPVSA
  PILVRRDAAPGASKLRAVLEKLKLSRDDISTAAGMVKGVVDHLLLRLKCDSAFRGVGLLNTGSYYEHVKISAPNE
  FDVMFKLEVPRIQLEEYSNTRAYYFVKFKRNPKENPLSQFLEGEILSASKMLSKFRKIIKEEINDIKDTDVIMKR
  KRGGSPAVTLLISEKISVDITLALESKSSWPASTQEGLRIQNWLSAKVRKQLRLKPFYLVPKHAKEGNGFQEETW
  RLSFSHIEKEILNNHGKSKTCCENKEEKCCRKDCLKLMKYLLEQLKERFKDKKHLDKFSSYHVKTAFFHVCTQNP
  QDSQWDRKDLGLCFDNCVTYFLQCLRTEKLENYFIPEFNLFSSNLIDKRSKEFLTKQIEYERNNEFPVFDEF

• Structural information:
  • Interpro: IPR024810  
  • PDB: 4KM5 4LEV 4LEW 4MKP 4O67 4O68 4O69 5V8O 5VDO 5VDP 5VDQ 5VDR 5VDS 5VDT 5VDU 5VDV 5VDW 6CT9 6CTA 6EDB 6EDC 6MJU 6MJW 6MJX 6NAO 6NFG 6NFO 6O47
  • PDBsum: 4KM5 4LEV 4LEW 4MKP 4O67 4O68 4O69 5V8O 5VDO 5VDP 5VDQ 5VDR 5VDS 5VDT 5VDU 5VDV 5VDW 6CT9 6CTA 6EDB 6EDC 6MJU 6MJW 6MJX 6NAO 6NFG 6NFO 6O47
  • STRING: ENSP00000359339
• Other Databases: GeneCards:  CGAS  Malacards:  CGAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002218	activation of innate immune response	IBA	biological process
GO:0002230	positive regulation of defense response to virus by host	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IBA	biological process
GO:0032481	positive regulation of type I interferon production	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0071360	cellular response to exogenous dsRNA	IBA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0038001	paracrine signaling	IBA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IBA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IBA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0038001	paracrine signaling	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:2000774	positive regulation of cellular senescence	ISS	biological process
GO:0002230	positive regulation of defense response to virus by host	IMP	biological process
GO:0002218	activation of innate immune response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0061501	cyclic-GMP-AMP synthase activity	EXP	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:2000774	positive regulation of cellular senescence	IEA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0050863	regulation of T cell activation	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IEA	biological process
GO:0038001	paracrine signaling	IEA	biological process
GO:0032479	regulation of type I interferon production	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0071360	cellular response to exogenous dsRNA	IEA	biological process
GO:0032481	positive regulation of type I interferon production	IEA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0002637	regulation of immunoglobulin production	IEA	biological process
GO:0002230	positive regulation of defense response to virus by host	IEA	biological process
GO:0002218	activation of innate immune response	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051607	defense response to virus	IDA	biological process
GO:0002218	activation of innate immune response	IBA	biological process
GO:0002230	positive regulation of defense response to virus by host	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IBA	biological process
GO:0032481	positive regulation of type I interferon production	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0071360	cellular response to exogenous dsRNA	IBA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0038001	paracrine signaling	IBA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IBA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IBA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0038001	paracrine signaling	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0061501	cyclic-GMP-AMP synthase activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0032481	positive regulation of type I interferon production	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IDA	biological process
GO:2000774	positive regulation of cellular senescence	ISS	biological process
GO:0002230	positive regulation of defense response to virus by host	IMP	biological process
GO:0002218	activation of innate immune response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0061501	cyclic-GMP-AMP synthase activity	EXP	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:2000774	positive regulation of cellular senescence	IEA	biological process
GO:0061501	cyclic-GMP-AMP synthase activity	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0050863	regulation of T cell activation	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IEA	biological process
GO:0038001	paracrine signaling	IEA	biological process
GO:0032479	regulation of type I interferon production	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0071360	cellular response to exogenous dsRNA	IEA	biological process
GO:0032481	positive regulation of type I interferon production	IEA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0002637	regulation of immunoglobulin production	IEA	biological process
GO:0002230	positive regulation of defense response to virus by host	IEA	biological process
GO:0002218	activation of innate immune response	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051607	defense response to virus	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05131	Shigellosis
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa04623	Cytosolic DNA-sensing pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq