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
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(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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
STING-ASSOCIATED VASCULOPATHY sting-associated vasculopathy with onset in infancy rs587777609, rs587777610, rs587777611, rs1561482476 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Chilblain Lupus Erythematosus familial chilblain lupus N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (186)
Associations from Text Mining Disease 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