Gene Gene information from NCBI Gene database.
Entrez ID 340061
Gene name Stimulator of interferon response cGAMP interactor 1
Gene symbol STING1
Synonyms (NCBI Gene)
ERISMITAMPYSNET23SAVISTINGSTING-betaTMEM173hMITAhSTING
Chromosome 5
Chromosome location 5q31.2
Summary This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits si
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs140011636 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, missense variant
rs587777609 T>C Pathogenic Coding sequence variant, missense variant
rs587777610 C>T Pathogenic Coding sequence variant, missense variant
rs587777611 C>G Pathogenic Coding sequence variant, missense variant
rs1561482476 C>T Pathogenic Downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
123
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 23202584
GO:0000045 Process Autophagosome assembly IDA 30568238, 30842662, 37535724
GO:0000045 Process Autophagosome assembly IEA
GO:0000139 Component Golgi membrane IDA 37535724
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612374 27962 ENSG00000184584
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86WV6
Protein name Stimulator of interferon genes protein (hSTING) (Endoplasmic reticulum interferon stimulator) (ERIS) (Mediator of IRF3 activation) (hMITA) (Transmembrane protein 173)
Protein function Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740
PDB 4EF4 , 4EF5 , 4EMT , 4EMU , 4F5D , 4F5E , 4F5W , 4F5Y , 4F9E , 4F9G , 4KSY , 4LOH , 4LOI , 4QXO , 4QXP , 4QXQ , 4QXR , 5BQX , 5JEJ , 6CFF , 6CY7 , 6DNK , 6DXG , 6DXL , 6MX0 , 6MX3 , 6MXE , 6NT5 , 6O8B , 6O8C , 6S26 , 6S27 , 6S86 , 6UKM , 6UKU , 6UKV , 6UKW , 6UKX , 6UKY , 6UKZ , 6UL0 , 6XF3 , 6XF4 , 6XNP , 6Y99 , 6YDB , 6YDZ , 6YEA , 6YWA , 6YWB , 6Z0Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15009 TMEM173 44 337 Transmembrane protein 173 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:18724357, PubMed:18818105). Expressed in skin endothelial cells, alveolar type 2 pneumocytes, bronchial epithelium and alveolar macrophages (PubMed:25029335). {ECO:0000269|PubMed:18724357, ECO:0000269|Pub
Sequence
Sequence length 379
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Shigellosis
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
  STING mediated induction of host immune responses
Regulation of innate immune responses to cytosolic DNA
STAT6-mediated induction of chemokines
IRF3-mediated induction of type I IFN
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
361
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
STING-associated vasculopathy with onset in infancy Likely pathogenic; Pathogenic rs2152094234, rs587777609, rs587777610, rs587777611, rs2547062066, rs2547063045, rs2547063044, rs1561482476 RCV001730166
RCV000133400
RCV000133401
RCV000133402
RCV002847646
RCV003335870
RCV003842903
RCV000689142
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs11554777 RCV005906317
Autoinflammatory syndrome Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs772018436, rs7380824, rs11554776, rs143322684, rs117897081, rs768799195, rs765347385, rs1215030543, rs2152094475, rs763523329, rs760161824, rs1392211552, rs2152094379, rs1033930953, rs375733291
View all (28 more)
RCV002264345
RCV002264366
RCV002264370
RCV002264386
RCV002264481
RCV002264482
RCV002264519
RCV002264520
RCV002264521
RCV002264522
RCV002264523
RCV002264524
RCV002264525
RCV002264526
RCV002264527
RCV002264528
RCV002264529
RCV002264530
RCV002264531
RCV002264532
RCV002264533
RCV002264534
RCV002264535
RCV002264536
RCV002263800
RCV002263803
RCV002263802
RCV002263801
RCV002263799
RCV002263911
RCV002263912
RCV002263913
RCV002263964
RCV002263977
RCV002263983
RCV002264011
RCV002264002
RCV002264046
RCV002264065
RCV002264151
RCV002264233
RCV002264221
RCV002264248
Clear cell carcinoma of kidney Uncertain significance rs746371007, rs781602496 RCV005869758
RCV005869759
Familial cancer of breast Likely benign; Uncertain significance; Benign rs200232916, rs199795457, rs11554777 RCV005900348
RCV005900347
RCV005906316
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Inhibit 32482869
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 32482869
Abortion Habitual Associate 37298501, 38012139
Acquired Immunodeficiency Syndrome Associate 30956171
Adenocarcinoma Associate 35099823, 36550819
Adenocarcinoma of Lung Associate 31221150, 32068166, 32654272, 35273829, 35978045, 37643778, 37667220
Adenomyosis Stimulate 32046461
Adenomyosis Associate 34010983
Alopecia Associate 31866997, 38178067
Alzheimer Disease Associate 37221295, 38049398, 39753133