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Aliases for TMEM173 Gene

Aliases for TMEM173 Gene

  • Transmembrane Protein 173 2 3 4 5
  • Endoplasmic Reticulum Interferon Stimulator 3 4
  • HSTING 3 4
  • STING 3 4
  • HMITA 3 4
  • ERIS 3 4
  • MITA 3 4
  • N-Terminal Methionine-Proline-Tyrosine-Serine Plasma Membrane Tetraspanner 3
  • Mitochondrial Mediator Of IRF3 Activation 3
  • Stimulator Of Interferon Genes Protein 3
  • Endoplasmic Reticulum IFN Stimulator 3
  • Stimulator Of Interferon Protein 3
  • Stimulator Of Interferon Genes 2
  • Mediator Of IRF3 Activation 4
  • STING-Beta 3
  • NET23 3
  • MPYS 3
  • SAVI 3

External Ids for TMEM173 Gene

Previous GeneCards Identifiers for TMEM173 Gene

  • GC05M138836
  • GC05M134001

Summaries for TMEM173 Gene

Entrez Gene Summary for TMEM173 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 signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

GeneCards Summary for TMEM173 Gene

TMEM173 (Transmembrane Protein 173) is a Protein Coding gene. Diseases associated with TMEM173 include Sting-Associated Vasculopathy, Infantile-Onset and Familial Chilblain Lupus. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Cytosolic sensors of pathogen-associated DNA. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding.

UniProtKB/Swiss-Prot for TMEM173 Gene

  • 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). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm. Acts by recognizing and binding cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced in response to DNA virus in the cytosol: upon binding of c-di-GMP or cGAMP, autoinhibition is alleviated and TMEM173/STING is able to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon and exert a potent anti-viral state. May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons. May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II). Mediates death signaling via activation of the extracellular signal-regulated kinase (ERK) pathway. Essential for the induction of IFN-beta in response to human herpes simplex virus 1 (HHV-1) infection. Exhibits 2,3 phosphodiester linkage-specific ligand recognition. Can bind both 2-3 linked cGAMP and 3-3 linked cGAMP but is preferentially activated by 2-3 linked cGAMP (PubMed:26300263).

  • (Microbial infection) Antiviral activity is antagonized by oncoproteins, such as papillomavirus (HPV) protein E7 and adenovirus early E1A protein (PubMed:26405230). Such oncoproteins prevent the ability to sense cytosolic DNA (PubMed:26405230).

Tocris Summary for TMEM173 Gene

  • STING (stimulator of interferon genes) is a pattern recognition receptor and adapter protein that mediates an innate immune response following detection of cytoplasmic DNA. STING-dependent signaling is involved in certain autoimmune diseases and cancer immunology.

Additional gene information for TMEM173 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM173 Gene

Genomics for TMEM173 Gene

GeneHancer (GH) Regulatory Elements for TMEM173 Gene

Promoters and enhancers for TMEM173 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J139480 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 672.5 +0.9 887 3.3 HDGF PKNOX1 SMAD1 FEZF1 DMAP1 ZNF2 POLR2B ZNF766 ZNF213 KLF13 TMEM173 LOC101059986 ANKHD1 DNAJC18 PURA IGIP SMIM33 GC05M139466 GC05P138946
GH05J139484 Enhancer 0.6 Ensembl dbSUPER 668.8 -1.9 -1866 0.8 EBF1 MLLT1 TMEM173 LOC101059986 GC05P139514 GC05M139466 GC05P138946
GH05J139633 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -170.4 -170431 40.3 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 CXXC5 ANKHD1 APBB3 IK TMCO6 TMEM173 LOC101929719 PSD2 DNAJC18 LOC105379194
GH05J139478 Enhancer 1 ENCODE dbSUPER 22.4 +4.0 4040 1.1 HDAC1 HDGF PKNOX1 ZNF766 ATF7 SMARCA5 ZBTB2 ZBTB11 ELF1 ZNF592 TMEM173 LOC101059986 SMIM33 GC05M139466 GC05P138946
GH05J139683 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.9 -209.9 -209925 18.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ANKHD1 HARS2 WDR55 CXXC5 TMCO6 IK PURA LOC101929719 MATR3 APBB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM173 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM173 gene promoter:
  • GATA-1
  • POU2F1a
  • POU2F1
  • Evi-1
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB

Genomic Locations for TMEM173 Gene

Genomic Locations for TMEM173 Gene
chr5:139,475,528-139,482,935
(GRCh38/hg38)
Size:
7,408 bases
Orientation:
Minus strand
chr5:138,855,113-138,862,520
(GRCh37/hg19)
Size:
7,408 bases
Orientation:
Minus strand

Genomic View for TMEM173 Gene

Genes around TMEM173 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM173 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM173 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM173 Gene

Proteins for TMEM173 Gene

  • Protein details for TMEM173 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WV6-STING_HUMAN
    Recommended name:
    Stimulator of interferon genes protein
    Protein Accession:
    Q86WV6
    Secondary Accessions:
    • A8K3P6
    • B6EB35
    • D6RBX0
    • D6RE01
    • D6RID9

    Protein attributes for TMEM173 Gene

    Size:
    379 amino acids
    Molecular mass:
    42193 Da
    Quaternary structure:
    • Associates with the MHC-II complex (By similarity). Homodimer; Lys-63-linked ubiquitination at Lys-150 is required for homodimerization. Interacts with DDX58/RIG-I, MAVS and SSR2. Interacts with RNF5 and TRIM56. Interacts with TBK1; when homodimer, leading to subsequent production of IFN-beta. Interacts with IFIT1 and IFIT2. Interacts with TRIM29; this interaction induces TMEM173/STING ubiquitination and subsequent degradation (PubMed:29038422).
    • (Microbial infection) Interacts with human papillomavirus (HPV) protein E7 (PubMed:26405230). Interacts with adenovirus early E1A protein (PubMed:26405230).
    Miscellaneous:
    • Contrary to human and rat TMEM173/STING, mouse TMEM173/STING mediates not only responses to cyclic nucleotide signaling molecules, but is also strongly activated by antiviral and anticancer molecules, such as 5,6-dimethylxanthenone 4-acetic acid (DMXAA) and 10-carboxymethyl-9-acridanone (CMA).

    Three dimensional structures from OCA and Proteopedia for TMEM173 Gene

neXtProt entry for TMEM173 Gene

Post-translational modifications for TMEM173 Gene

  • Phosphorylated on tyrosine residues upon MHC-II aggregation (By similarity). Phosphorylated on Ser-358 by TBK1, leading to activation and production of IFN-beta.
  • Ubiquitinated (PubMed:19285439, PubMed:19433799, PubMed:21074459, PubMed:25254379). Lys-63-linked ubiquitination mediated by TRIM56 at Lys-150 promotes homodimerization and recruitment of the antiviral kinase TBK1 and subsequent production of IFN-beta (PubMed:21074459). Lys-48-linked polyubiquitination at Lys-150 occurring after viral infection is mediated by RNF5 and leads to proteasomal degradation (PubMed:19285439). Lys-11-linked polyubiquitination at Lys-150 by RNF26 leads to stabilize TMEM173/STING: it protects TMEM173/STING from RNF5-mediated Lys-48-linked polyubiquitination (PubMed:25254379).
  • Ubiquitination at isoforms=150
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM173 Gene

Antibody Products

  • R&D Systems Antibodies for TMEM173 (STING/TMEM173)
  • Abcam antibodies for TMEM173

No data available for DME Specific Peptides for TMEM173 Gene

Domains & Families for TMEM173 Gene

Gene Families for TMEM173 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TMEM173 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM173 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86WV6

UniProtKB/Swiss-Prot:

STING_HUMAN :
  • The c-di-GMP-binding domain (CBD) forms a homodimer via hydrophobic interactions and binds both the cyclic diguanylate monophosphate (c-di-GMP) and the cyclic GMP-AMP (cGAMP) messengers. In absence of c-di-GMP or cGAMP, the protein is autoinhibited by an intramolecular interaction between the CBD and the C-terminal tail (CTT). Binding of c-di-GMP or cGAMP to the CBD releases the autoinhibition by displacing the CTT, leading to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon. The N-terminal part of the CBD region was initially though to contain a fifth transmembrane region (TM5) but is part of the folded, soluble CBD (PubMed:22579474, PubMed:22705373, PubMed:22728658, PubMed:22728660 and PubMed:22728659).
  • Belongs to the TMEM173 family.
Domain:
  • The c-di-GMP-binding domain (CBD) forms a homodimer via hydrophobic interactions and binds both the cyclic diguanylate monophosphate (c-di-GMP) and the cyclic GMP-AMP (cGAMP) messengers. In absence of c-di-GMP or cGAMP, the protein is autoinhibited by an intramolecular interaction between the CBD and the C-terminal tail (CTT). Binding of c-di-GMP or cGAMP to the CBD releases the autoinhibition by displacing the CTT, leading to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon. The N-terminal part of the CBD region was initially though to contain a fifth transmembrane region (TM5) but is part of the folded, soluble CBD (PubMed:22579474, PubMed:22705373, PubMed:22728658, PubMed:22728660 and PubMed:22728659).
Family:
  • Belongs to the TMEM173 family.
genes like me logo Genes that share domains with TMEM173: view

Function for TMEM173 Gene

Molecular function for TMEM173 Gene

UniProtKB/Swiss-Prot 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). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm. Acts by recognizing and binding cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced in response to DNA virus in the cytosol: upon binding of c-di-GMP or cGAMP, autoinhibition is alleviated and TMEM173/STING is able to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon and exert a potent anti-viral state. May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons. May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II). Mediates death signaling via activation of the extracellular signal-regulated kinase (ERK) pathway. Essential for the induction of IFN-beta in response to human herpes simplex virus 1 (HHV-1) infection. Exhibits 2,3 phosphodiester linkage-specific ligand recognition. Can bind both 2-3 linked cGAMP and 3-3 linked cGAMP but is preferentially activated by 2-3 linked cGAMP (PubMed:26300263).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Antiviral activity is antagonized by oncoproteins, such as papillomavirus (HPV) protein E7 and adenovirus early E1A protein (PubMed:26405230). Such oncoproteins prevent the ability to sense cytosolic DNA (PubMed:26405230).

Phenotypes From GWAS Catalog for TMEM173 Gene

Gene Ontology (GO) - Molecular Function for TMEM173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18724357
GO:0008134 transcription factor binding IDA 18818105
GO:0019901 protein kinase binding IPI,IDA 21074459
GO:0031625 ubiquitin protein ligase binding IEA --
GO:0035438 cyclic-di-GMP binding IDA 22705373
genes like me logo Genes that share ontologies with TMEM173: view
genes like me logo Genes that share phenotypes with TMEM173: view

Human Phenotype Ontology for TMEM173 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM173 Gene

MGI Knock Outs for TMEM173:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TMEM173 Gene

Localization for TMEM173 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM173 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Cytoplasm. Note=In response to double-stranded DNA stimulation, relocalizes to perinuclear region, where the kinase TBK1 is recruited.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM173 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
nucleus 4
peroxisome 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for TMEM173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 18818105
GO:0005777 peroxisome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with TMEM173: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM173 Gene

Pathways & Interactions for TMEM173 Gene

genes like me logo Genes that share pathways with TMEM173: view

Gene Ontology (GO) - Biological Process for TMEM173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IMP,IEA 18818105
GO:0002230 positive regulation of defense response to virus by host IMP 18818105
GO:0002376 immune system process IEA --
GO:0006915 apoptotic process IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with TMEM173: view

No data available for SIGNOR curated interactions for TMEM173 Gene

Drugs & Compounds for TMEM173 Gene

No Compound Related Data Available

Transcripts for TMEM173 Gene

Unigene Clusters for TMEM173 Gene

Transmembrane protein 173:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM173 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - -
SP8: - - -
SP9: - -
SP10: -
SP11:

Relevant External Links for TMEM173 Gene

GeneLoc Exon Structure for
TMEM173
ECgene alternative splicing isoforms for
TMEM173

Expression for TMEM173 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM173 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM173 Gene

This gene is overexpressed in Nasal epithelium (17.4), Monocytes (16.8), and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM173 Gene



Protein tissue co-expression partners for TMEM173 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM173 Gene:

TMEM173

SOURCE GeneReport for Unigene cluster for TMEM173 Gene:

Hs.379754

mRNA Expression by UniProt/SwissProt for TMEM173 Gene:

Q86WV6-STING_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed in skin endothelial cells, alveolar type 2 pneumocytes, bronchial epithelium and alveolar macrophages.

Evidence on tissue expression from TISSUES for TMEM173 Gene

  • Lung(4.6)
  • Liver(4.2)
  • Blood(2.3)
  • Spleen(2.2)
  • Nervous system(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM173 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TMEM173: view

No data available for mRNA differential expression in normal tissues for TMEM173 Gene

Orthologs for TMEM173 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM173 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM173 34 33
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM173 34 33
  • 85.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM173 34 33
  • 84.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem173 33
  • 77.25 (n)
mouse
(Mus musculus)
Mammalia Tmem173 16 34 33
  • 76.92 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM173 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM173 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM173 34 33
  • 56.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM173 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem173 33
  • 51.46 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem173 34 33
  • 47.85 (n)
OneToOne
Species where no ortholog for TMEM173 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM173 Gene

ENSEMBL:
Gene Tree for TMEM173 (if available)
TreeFam:
Gene Tree for TMEM173 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM173: view image

Paralogs for TMEM173 Gene

No data available for Paralogs for TMEM173 Gene

Variants for TMEM173 Gene

Sequence variations from dbSNP and Humsavar for TMEM173 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs114834699 benign, Sting-associated vasculopathy, infantile-onset 139,478,449(-) C/A coding_sequence_variant, missense_variant
rs140837017 benign, Sting-associated vasculopathy, infantile-onset 139,477,338(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs142609349 benign, Sting-associated vasculopathy, infantile-onset 139,481,194(-) G/T coding_sequence_variant, missense_variant
rs144010323 benign, Sting-associated vasculopathy, infantile-onset 139,478,370(-) C/A/T coding_sequence_variant, missense_variant
rs201096097 uncertain-significance, Sting-associated vasculopathy, infantile-onset 139,478,454(-) C/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM173 Gene

Variant ID Type Subtype PubMed ID
nsv516200 CNV loss 19592680
nsv519808 CNV loss 19592680

Variation tolerance for TMEM173 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.88; 94.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM173 Gene

Human Gene Mutation Database (HGMD)
TMEM173
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM173

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM173 Gene

Disorders for TMEM173 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMEM173 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STING_HUMAN
  • STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934]: An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease. {ECO:0000269 PubMed:25029335}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM173

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMEM173: view

No data available for Genatlas for TMEM173 Gene

Publications for TMEM173 Gene

  1. STING is a direct innate immune sensor of cyclic di-GMP. (PMID: 21947006) Burdette DL … Vance RE (Nature 2011) 2 3 4 58
  2. Rat and human STINGs profile similarly towards anticancer/antiviral compounds. (PMID: 26669264) Zhang H … Su XD (Scientific reports 2015) 3 4 58
  3. DNA tumor virus oncogenes antagonize the cGAS-STING DNA-sensing pathway. (PMID: 26405230) Lau L … Stetson DB (Science (New York, N.Y.) 2015) 3 4 58
  4. Activated STING in a vascular and pulmonary syndrome. (PMID: 25029335) Liu Y … Goldbach-Mansky R (The New England journal of medicine 2014) 3 4 58
  5. RNF26 temporally regulates virus-triggered type I interferon induction by two distinct mechanisms. (PMID: 25254379) Qin Y … Shu HB (PLoS pathogens 2014) 3 4 58

Products for TMEM173 Gene

Sources for TMEM173 Gene