CGAS cyclic GMP-AMP synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CGASprovided by HGNC
Official Full Name: cyclic GMP-AMP synthaseprovided by HGNC
Primary source: HGNC:HGNC:21367
See related: Ensembl:ENSG00000164430 MIM:613973; AllianceGenome:HGNC:21367
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D4; MB21D1; h-cGAS; C6orf150
Summary: Enables several functions, including 2',3'-cyclic GMP-AMP synthase activity; molecular condensate scaffold activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including defense response to symbiont; intracellular signal transduction; and regulation of defense response. Located in nuclear body; plasma membrane; and site of double-strand break. Is active in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73423711..73452297, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74600410..74628713, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74133434..74162020, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Poxin-deficient poxviruses are sensed by cGAS prior to genome replication.
Title: Poxin-deficient poxviruses are sensed by cGAS prior to genome replication.
Unravelling the interplay between ER stress, UPR and the cGAS-STING pathway: Implications for osteoarthritis pathogenesis and treatment strategy.
Title: Unravelling the interplay between ER stress, UPR and the cGAS-STING pathway: Implications for osteoarthritis pathogenesis and treatment strategy.
Inactivated cGAS-STING Signaling Facilitates Endocrine Resistance by Forming a Positive Feedback Loop with AKT Kinase in ER+HER2- Breast Cancer.
Title: Inactivated cGAS-STING Signaling Facilitates Endocrine Resistance by Forming a Positive Feedback Loop with AKT Kinase in ER+HER2- Breast Cancer.
Activation of the cGAS-STING-IRF3 Axis by Type I and II Interferons Contributes to Host Defense.
Title: Activation of the cGAS-STING-IRF3 Axis by Type I and II Interferons Contributes to Host Defense.
The relationship between tumor immunity and the cGAS-STING pathway in breast cancer: An immunohistochemical study.
Title: The relationship between tumor immunity and the cGAS-STING pathway in breast cancer: An immunohistochemical study.
53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
Title: 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
Targeting protein condensation in cGAS-STING signaling pathway.
Title: Targeting protein condensation in cGAS-STING signaling pathway.
The crucial roles and research advances of cGAS-STING pathway in liver diseases.
Title: The crucial roles and research advances of cGAS‑STING pathway in liver diseases.
R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells.
Title: R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells.
The effects of cGAS-STING inhibition in liver disease, kidney disease, and cellular senescence.
Title: The effects of cGAS-STING inhibition in liver disease, kidney disease, and cellular senescence.

Submit: New GeneRIF Correction See all GeneRIFs (237)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	HIV-1 CA is a determinant of innate sensing of the viral cDNA by MB21D1 (cGAS) in dendritic cells (DCs). DCs sense capsid-mutated HIV-1 and enhance stimulation of T cells in the absence of productive infection	PubMed
reverse transcriptase	gag-pol	HIV-1 infection induces the production of endogenous cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) in a manner that depends on cGAMP synthase (cGAS) and the reserve transcription of viral RNA to cDNA by RT	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN32832 (e-PCR)
- UniSTS:357632

REN32833 (e-PCR)
- UniSTS:357633

REN32834 (e-PCR)
- UniSTS:357634

REN32835 (e-PCR)
- UniSTS:357635

REN32836 (e-PCR)
- UniSTS:357636

REN32837 (e-PCR)
- UniSTS:357637

ECD21088 (e-PCR)
- UniSTS:302085

REN32838 (e-PCR)
- UniSTS:357638

REN32839 (e-PCR)
- UniSTS:357639

REN32840 (e-PCR)
- UniSTS:357640

REN32841 (e-PCR)
- UniSTS:357641

ECD22381 (e-PCR)
- UniSTS:303369

REN32842 (e-PCR)
- UniSTS:357642

REN32843 (e-PCR)
- UniSTS:357643

REN32844 (e-PCR)
- UniSTS:357644

REN32845 (e-PCR)
- UniSTS:357645

REN32846 (e-PCR)
- UniSTS:357646

REN32847 (e-PCR)
- UniSTS:357647

ECD24183 (e-PCR)
- UniSTS:305167

REN32848 (e-PCR)
- UniSTS:357648

REN32849 (e-PCR)
- UniSTS:357649

ECD08506 (e-PCR)
- UniSTS:289554

REN32850 (e-PCR)
- UniSTS:357650

REN32851 (e-PCR)
- UniSTS:357651

REN32852 (e-PCR)
- UniSTS:357652

REN32853 (e-PCR)
- UniSTS:357653

REN32854 (e-PCR)
- UniSTS:357654

REN32855 (e-PCR)
- UniSTS:357655

REN32856 (e-PCR)
- UniSTS:357656

REN32857 (e-PCR)
- UniSTS:357657

REN32858 (e-PCR)
- UniSTS:357658

REN32859 (e-PCR)
- UniSTS:357659

REN32860 (e-PCR)
- UniSTS:357660

REN32861 (e-PCR)
- UniSTS:357661

ECD20598 (e-PCR)
- UniSTS:301597

REN32862 (e-PCR)
- UniSTS:357662

REN32863 (e-PCR)
- UniSTS:357663

REN32864 (e-PCR)
- UniSTS:357664

REN32865 (e-PCR)
- UniSTS:357665

ECD22921 (e-PCR)
- UniSTS:303906

REN32867 (e-PCR)
- UniSTS:357667

REN32868 (e-PCR)
- UniSTS:357668

REN32869 (e-PCR)
- UniSTS:357669

ECD14968 (e-PCR)
- UniSTS:295985

ECD19638 (e-PCR)
- UniSTS:300643

ECD08864 (e-PCR)
- UniSTS:289911

ECD20960 (e-PCR)
- UniSTS:301958

ECD11966 (e-PCR)
- UniSTS:292999

REN32728 (e-PCR)
- UniSTS:357528

REN32729 (e-PCR)
- UniSTS:357529

ECD22018 (e-PCR)
- UniSTS:303009

ECD20473 (e-PCR)
- UniSTS:301476

ECD16391 (e-PCR)
- UniSTS:297406

REN32772 (e-PCR)
- UniSTS:357572

REN32773 (e-PCR)
- UniSTS:357573

REN32774 (e-PCR)
- UniSTS:357574

REN32775 (e-PCR)
- UniSTS:357575

REN32776 (e-PCR)
- UniSTS:357576

REN32777 (e-PCR)
- UniSTS:357577

REN32778 (e-PCR)
- UniSTS:357578

REN32779 (e-PCR)
- UniSTS:357579

REN32780 (e-PCR)
- UniSTS:357580

REN32781 (e-PCR)
- UniSTS:357581

REN32782 (e-PCR)
- UniSTS:357582

REN32783 (e-PCR)
- UniSTS:357583

REN32784 (e-PCR)
- UniSTS:357584

REN32785 (e-PCR)
- UniSTS:357585

ECD08956 (e-PCR)
- UniSTS:290002

REN32786 (e-PCR)
- UniSTS:357586

REN32787 (e-PCR)
- UniSTS:357587

REN32788 (e-PCR)
- UniSTS:357588

REN32789 (e-PCR)
- UniSTS:357589

REN32790 (e-PCR)
- UniSTS:357590

REN32791 (e-PCR)
- UniSTS:357591

REN32792 (e-PCR)
- UniSTS:357592

REN32793 (e-PCR)
- UniSTS:357593

REN32794 (e-PCR)
- UniSTS:357594

REN32795 (e-PCR)
- UniSTS:357595

REN32796 (e-PCR)
- UniSTS:357596

REN32797 (e-PCR)
- UniSTS:357597

REN32798 (e-PCR)
- UniSTS:357598

REN32799 (e-PCR)
- UniSTS:357599

REN32800 (e-PCR)
- UniSTS:357600

REN32801 (e-PCR)
- UniSTS:357601

REN32802 (e-PCR)
- UniSTS:357602

REN32803 (e-PCR)
- UniSTS:357603

REN32804 (e-PCR)
- UniSTS:357604

REN32805 (e-PCR)
- UniSTS:357605

REN32806 (e-PCR)
- UniSTS:357606

REN32807 (e-PCR)
- UniSTS:357607

REN32808 (e-PCR)
- UniSTS:357608

REN32809 (e-PCR)
- UniSTS:357609

REN32810 (e-PCR)
- UniSTS:357610

REN32811 (e-PCR)
- UniSTS:357611

REN32812 (e-PCR)
- UniSTS:357612

REN32813 (e-PCR)
- UniSTS:357613

REN32814 (e-PCR)
- UniSTS:357614

REN32815 (e-PCR)
- UniSTS:357615

REN32816 (e-PCR)
- UniSTS:357616

REN32817 (e-PCR)
- UniSTS:357617

REN32818 (e-PCR)
- UniSTS:357618

REN32819 (e-PCR)
- UniSTS:357619

REN32820 (e-PCR)
- UniSTS:357620

REN32821 (e-PCR)
- UniSTS:357621

REN32822 (e-PCR)
- UniSTS:357622

REN32823 (e-PCR)
- UniSTS:357623

REN32824 (e-PCR)
- UniSTS:357624

REN32825 (e-PCR)
- UniSTS:357625

REN32826 (e-PCR)
- UniSTS:357626

REN32827 (e-PCR)
- UniSTS:357627

REN32828 (e-PCR)
- UniSTS:357628

REN32829 (e-PCR)
- UniSTS:357629

REN32830 (e-PCR)
- UniSTS:357630

REN32831 (e-PCR)
- UniSTS:357631

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2',3'-cyclic GMP-AMP synthase activity	EXP Inferred from Experiment more info	PubMed
enables 2',3'-cyclic GMP-AMP synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 2',3'-cyclic GMP-AMP synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables 2',3'-cyclic GMP-AMP synthase activity	TAS Traceable Author Statement more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleosome binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables poly-ADP-D-ribose modification-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cAMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cGAS/STING signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cGMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to exogenous dsRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in paracrine signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in paracrine signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cellular senescence	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of defense response to virus by host	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type I interferon production	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon production	TAS Traceable Author Statement more info
involved_in regulation of T cell activation	IEA Inferred from Electronic Annotation more info
involved_in regulation of immunoglobulin production	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclic GMP-AMP synthase

Names: 2'3'-cGAMP synthase; DANGER family member 4; Mab-21 domain containing 1; cGAMP synthase; mab-21 domain-containing protein 1; protein MB21D1

NP_001397840.1

EC 2.7.7.86

NP_612450.2

EC 2.7.7.86

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.