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Gene Gene information from NCBI Gene database.
Entrez ID 115004
Gene name Cyclic GMP-AMP synthase
Gene symbol CGAS
Synonyms (NCBI Gene)
C6orf150D4MB21D1h-cGAS
Chromosome 6
Chromosome location 6q13
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
102 Show/Hide all (102)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002218 Process Activation of innate immune response IBA
GO:0002218 Process Activation of innate immune response IDA 23258413, 23929945, 24077100, 26046437, 28363908, 29426904, 30007416, 32817552, 32911482, 32912999, 33542149, 35438208
GO:0002218 Process Activation of innate immune response IEA
GO:0002218 Process Activation of innate immune response IMP 23258413
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613973 21367 ENSG00000164430
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N884
Protein 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)
Protein function Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (2',3'-cGAMP) from ATP and GTP and plays a key role in innate immunity (PubMed:21478870, PubMed:23258413, PubMed:23707061, PubMed:23707065, PubMed:23722159, PubMed:24077100, P
PDB 4KM5 , 4LEV , 4LEW , 4MKP , 4O67 , 4O68 , 4O69 , 5V8O , 5VDO , 5VDP , 5VDQ , 5VDR , 5VDS , 5VDT , 5VDU , 5VDV , 5VDW , 6CT9 , 6CTA , 6EDB , 6EDC , 6LRC , 6LRE , 6LRI , 6LRJ , 6LRK , 6LRL , 6MJU , 6MJW , 6MJX , 6NAO , 6NFG , 6NFO , 6O47 , 6Y5D , 6Y5E , 7C0M , 7CCQ , 7CCR , 7FTF , 7FTG , 7FTH , 7FTI , 7FTJ , 7FTK , 7FTL , 7FTM , 7FTN , 7FTO , 7FTP , 7FTQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03281 Mab-21 214 → 510 Mab-21 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the monocytic cell line THP1. {ECO:0000269|PubMed:23258413}.
Sequence
MQPWHGKAMQRASEAGATAPKASARNARGAPMDPTESPAAPEAALPKAGKFGPARKSGSR
QKKSAPDTQERPPVRATGARAKKAPQRAQDTQPSDATSAPGAEGLEPPAAREPALSRAGS
CRQRGARCSTKPRPPPGPWDVPSPGLPVSAPILVRRDAAPGASKLRAVLEKLKLSRDDIS
TAAGMVKGVVDHLLLRLKCDSAFRGVGLLNTGSYYEHVKISAPNEFDVMFKLEVPRIQLE
EYSNTRAYYFVKFKRNPKENPLSQFLEGEILSASKMLSKFRKIIKEEINDIKDTDVIMKR
KRGGSPAVTLLISEKISVDITLALESKSSWPASTQEGLRIQNWLSAKVRKQLRLKPFYLV
PKHAKEGNGFQEETWRLSFSHIEKEILNNHGKSKTCCENKEEKCCRKDCLKLMKYLLEQL
KERFKDKKHLDKFSSYHVKTAFFHVCTQNPQDSQWDRKDLGLCFDNCVTYFLQCLRTEKL
ENYFIPEFNLFSSNLIDKRSKEFLTKQIEY
ERNNEFPVFDEF
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Cytosolic DNA-sensing pathway STING mediated induction of host immune responses
Shigellosis  
Human cytomegalovirus infection  
Herpes simplex virus 1 infection  
Human immunodeficiency virus 1 infection  
Coronavirus disease - COVID-19  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial cancer of breast Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (72)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 29215161 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 26223655, 27863149, 28963528
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37221295, 38049398, 39753133 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26819496, 37802125 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 34459078 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36598778 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 36030554 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 24813208, 26223655, 28363908, 28771599, 28835460, 28940468, 28963528, 30510222, 30799039, 30990921, 31066607, 31276766
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 27125983, 33051594, 34718330, 37129502, 37802125 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoinflammatory disorder Autoinflammatory Disease BEFREE 28738408
★★★★★
★☆☆☆☆
Found in Text Mining only