STING1 (stimulator of interferon response cGAMP interactor 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340061
Gene name Gene Name - the full gene name approved by the HGNC.
Stimulator of interferon response cGAMP interactor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STING1
Synonyms (NCBI Gene) Gene synonyms aliases
ERIS, MITA, MPYS, NET23, SAVI, STING, STING-beta, TMEM173, hMITA, hSTING
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SAVI
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(60)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA 21873635
GO:0000045 Process Autophagosome assembly IDA 30568238, 30842662
GO:0000421 Component Autophagosome membrane IEA
GO:0002218 Process Activation of innate immune response IBA 21873635
GO:0002218 Process Activation of innate immune response IMP 18818105
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612374 27962 ENSG00000184584
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)		 25401470
Chilblain lupus erythematosus Chilblain lupus 1, Familial Chilblain lupus rs1575292873, rs121908117 27566796
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 25129146
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Chilblain Lupus Erythematosus familial chilblain lupus GenCC
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (186)
Associations from Text Mining
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