STING1 (stimulator of interferon response cGAMP interactor 1)

Gene

• Entrez ID: 340061
• Gene name: Stimulator of interferon response cGAMP interactor 1
• Gene symbol: STING1
• Synonyms: ERIS, MITA, MPYS, NET23, SAVI, STING, STING-beta, TMEM173, hMITA, hSTING
• 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 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)

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
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	18818105
GO:0005515	Function	Protein binding	IPI	18724357, 18818105, 19416887, 19433799, 20080758, 20628368, 20890285, 21903422, 22000020, 22312431, 22908223, 22911572, 23542348, 24560620, 24622840, 25299331, 26405230, 29251827, 29429998, 30842662, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005741	Component	Mitochondrial outer membrane	IDA	18818105
GO:0005768	Component	Endosome	IDA	29694889
GO:0005776	Component	Autophagosome	IBA	21873635
GO:0005776	Component	Autophagosome	IDA	29694889
GO:0005777	Component	Peroxisome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19433799, 25254379, 29694889, 30842659, 30842662
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0008134	Function	Transcription factor binding	IDA	18818105
GO:0016032	Process	Viral process	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IBA	21873635
GO:0016239	Process	Positive regulation of macroautophagy	IDA	30568238, 30842662
GO:0019901	Function	Protein kinase binding	IDA	18818105
GO:0019901	Function	Protein kinase binding	IPI	21074459
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	30119996
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032092	Process	Positive regulation of protein binding	IDA	18818105
GO:0032479	Process	Regulation of type I interferon production	TAS
GO:0032481	Process	Positive regulation of type I interferon production	IBA	21873635
GO:0032481	Process	Positive regulation of type I interferon production	IDA	22394562, 23747010, 26669264, 29694889, 30842659
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0032608	Process	Interferon-beta production	IDA	21074459, 25254379
GO:0032608	Process	Interferon-beta production	IMP	19433799
GO:0035438	Function	Cyclic-di-GMP binding	IBA	21873635
GO:0035438	Function	Cyclic-di-GMP binding	IDA	22705373, 29694889
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0042802	Function	Identical protein binding	IPI	19433799, 22312431, 22728658, 22728659, 22728660, 23542348, 30405246, 30842659
GO:0042803	Function	Protein homodimerization activity	IDA	19433799, 21074459, 22705373
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0045087	Process	Innate immune response	IDA	21074459, 25254379
GO:0045087	Process	Innate immune response	IMP	19433799
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18818105
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	18818105
GO:0051259	Process	Protein complex oligomerization	IDA	30842659
GO:0051607	Process	Defense response to virus	IBA	21873635
GO:0051607	Process	Defense response to virus	IDA	21074459, 25254379
GO:0061507	Function	Cyclic-GMP-AMP binding	IBA	21873635
GO:0061507	Function	Cyclic-GMP-AMP binding	IDA	23747010, 26669264, 30842659, 30842662
GO:0061507	Function	Cyclic-GMP-AMP binding	ISS
GO:0061709	Process	Reticulophagy	IBA	21873635
GO:0061709	Process	Reticulophagy	ISS
GO:0071360	Process	Cellular response to exogenous dsRNA	IMP	18818105
GO:0071407	Process	Cellular response to organic cyclic compound	IDA	26669264
GO:1990701	Component	Integral component of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	IDA	30842662

Other IDs

• MIM: 612374
• HGNC: 27962
• e!Ensembl: ENSG00000184584

Protein

• 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

• Sequence:

  MPHSSLHPSIPCPRGHGAQKAALVLLSACLVTLWGLGEPPEHTLRYLVLHLASLQLGLLL
  NGVCSLAEELRHIHSRYRGSYWRTVRACLGCPLRRGALLLLSIYFYYSLPNAVGPPFTWM
  LALLGLSQALNILLGLKGLAPAEISAVCEKGNFNVAHGLAWSYYIGYLRLILPELQARIR
  TYNQHYNNLLRGAVSQRLYILLPLDCGVPDNLSMADPNIRFLDKLPQQTGDHAGIKDRVY
  SNSIYELLENGQRAGTCVLEYATPLQTLFAMSQYSQAGFSREDRLEQAKLFCRTLEDILA
  DAPESQNNCRLIAYQEPADDSSFSLSQEVLRHLRQEEKEEVTVGSLKTSAVPSTSTMSQE
  PELLISGMEKPLPLRTDFS

• Sequence length: 379

Pathways

KEGG:

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

Reactome:

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

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	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
Sting-associated vasculopathy	STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, STING-associated vasculopathy with onset in infancy	rs587777609, rs587777610, rs587777611, rs1561482476	25401470, 28484079, 25029335, 30842659, 26235147, 27613991

Unknown
Disease name	Disease term	dbSNP ID	References
Cutis marmorata	Cutis marmorata
Leukopenia	Leukopenia
Lung diseases	Lung Diseases, Interstitial
Nail dystrophy	Dystrophia unguium
Thrombocytosis	Thrombocytosis