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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
  • Stimulator Of Interferon Genes Protein 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
  • 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 Human cytomegalovirus infection and Innate Immune System. 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) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740, PubMed:23027953, PubMed:23910378, PubMed:23747010, PubMed:30842659). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm (PubMed:26300263). Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol (PubMed:21947006, PubMed:23258412, PubMed:23707065, PubMed:23722158, PubMed:26229117, PubMed:23910378, PubMed:23747010, PubMed:30842659). Upon binding of c-di-GMP or cGAMP, TMEM173/STING oligomerizes, translocates from the endoplasmic reticulum and is phosphorylated by TBK1 on the pLxIS motif, leading to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent anti-viral state (PubMed:22394562, PubMed:25636800, PubMed:30842653). In addition to promote the production of type I interferons, plays a direct role in autophagy (PubMed:30568238, PubMed:30842662). Following cGAMP-binding, TMEM173/STING buds from the endoplasmic reticulum into COPII vesicles, which then form the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) (PubMed:30842662). The ERGIC serves as the membrane source for WIPI2 recruitment and LC3 lipidation, leading to formation of autophagosomes that target cytosolic DNA or DNA viruses for degradation by the lysosome (PubMed:30842662). The autophagy- and interferon-inducing activities can be uncoupled and autophagy induction is independent of TBK1 phosphorylation (PubMed:30568238, PubMed:30842662). Autophagy is also triggered upon infection by bacteria: following c-di-GMP-binding, which is produced by live Gram-positive bacteria, promotes reticulophagy (By similarity). Exhibits 2',3' phosphodiester linkage-specific ligand recognition: can bind both 2'-3' linked cGAMP (2'-3'-cGAMP) and 3'-3' linked cGAMP but is preferentially activated by 2'-3' linked cGAMP (PubMed:26300263, PubMed:23910378, PubMed:23747010). The preference for 2'-3'-cGAMP, compared to other linkage isomers is probably due to the ligand itself, whichs adopts an organized free-ligand conformation that resembles the TMEM173/STING-bound conformation and pays low energy costs in changing into the active conformation (PubMed:26150511). May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons (PubMed:18724357). May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II) (By similarity).
  • (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 622.5 +0.9 887 3.3 ZFX MLLT1 GTF2F1 ZNF687 NFIB ZSCAN21 BACH1 TRIM24 SP7 KLF14 TMEM173 LOC101059986 ANKHD1 DNAJC18 PURA IGIP SMIM33 GC05M139466 GC05P138946
GH05J139484 Enhancer 0.3 dbSUPER 618.7 -2.0 -1985 1.1 MLLT1 TMEM173 LOC101059986 ENSG00000249689 GC05M139466 GC05P138946
GH05J139633 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -170.5 -170494 40.2 ZNF652 ZFX SP1 CTCF ELF3 CC2D1A ZKSCAN8 MNT CBFA2T2 ZNF148 CXXC5 ANKHD1 TMCO6 APBB3 IK TMEM173 ENSG00000254363 PSD2 DNAJC18 ENSG00000253404
GH05J139478 Enhancer 1 ENCODE dbSUPER 22.3 +4.0 4040 1.1 GTF2F1 ZNF639 SMARCA4 IKZF1 PKNOX1 LEF1 ZNF740 HDAC1 MTA2 EP300 TMEM173 LOC101059986 SMIM33 GC05M139466 GC05P138946
GH05J139468 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 16.4 +14.0 14000 1.2 CTCF CEBPB NFIL3 BCL6 MYC HLF SMIM33 TMEM173 ECSCR GC05M139466 GC05P138946
- 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:
  • AP-1
  • c-Fos
  • c-Jun
  • Evi-1
  • FosB
  • Fra-1
  • GATA-1
  • JunB
  • POU2F1
  • POU2F1a

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:
    • Homodimer; forms a homodimer in absence of cyclic nucleotide (c-di-GMP or cGAMP); 'Lys-63'-linked ubiquitination at Lys-150 is required for homodimerization (PubMed:22579474, PubMed:22705373, PubMed:22728658, PubMed:22728660, PubMed:22728659, PubMed:19285439, PubMed:30842659). Homotetramer; in presence of cyclic nucleotide (c-di-GMP or cGAMP), forms tetramers and higher-order oligomers through side-by-side packing (Probable). Interacts (when phosphorylated) with IRF3; following activation and phosphorylation on the pLxIS motif by TBK1, recruits IRF3 (PubMed:22394562, PubMed:25636800, PubMed:27302953). Interacts with DDX58/RIG-I, MAVS and SSR2 (PubMed:18818105, PubMed:18724357). Interacts with RNF5 and TRIM56 (PubMed:19285439, PubMed:21074459). Interacts with TBK1; when homodimer, leading to subsequent production of IFN-beta (PubMed:19416887). Interacts with IFIT1 and IFIT2 (PubMed:19416887). Interacts with TRIM29; this interaction induces TMEM173/STING ubiquitination and subsequent degradation (PubMed:29038422). Associates with the MHC-II complex (By similarity). Interacts with SEC24C; promoting translocation to the COPII vesicles (PubMed:30842662). Interacts (when ubiquitinated) with SQSTM1; leading to relocalization to autophagosomes (By similarity).
    • (Microbial infection) Interacts with human papillomavirus (HPV) protein E7.
    • (Microbial infection) Interacts with adenovirus early E1A protein.
    • (Microbial infection) Interacts with herpes simplex virus 1 protein ICP34.5; this interaction inhibits the intracellular DNA sensing pathway.

    Three dimensional structures from OCA and Proteopedia for TMEM173 Gene

neXtProt entry for TMEM173 Gene

Post-translational modifications for TMEM173 Gene

  • Phosphorylation by TBK1 leads to activation and production of IFN-beta (PubMed:18818105, PubMed:19433799, PubMed:25636800, PubMed:30842659, PubMed:30842653, PubMed:27302953). Following cyclic nucleotide (c-di-GMP or cGAMP)-binding, activation and translocation from the endoplasmic reticulum, TMEM173/STING is phosphorylated by TBK1 at Ser-366 in the pLxIS motif (PubMed:25636800). The phosphorylated pLxIS motif constitutes an IRF3-binding motif, leading to recruitment of the transcription factor IRF3 to induce type-I interferons and other cytokines (PubMed:25636800). Phosphorylated on tyrosine residues upon MHC-II aggregation (By similarity).
  • Ubiquitinated (PubMed:19285439, PubMed:19433799, PubMed:21074459, PubMed:25254379). Ubiquitinated via 'Lys-63'-linked ubiquitin chains in response to double-stranded DNA treatment, leading to relocalization to autophagosomes and subsequent degradation; this process is dependent on SQSTM1 (By similarity). '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

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:
  • Stimulator of interferon genes protein (TM173_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WV6

UniProtKB/Swiss-Prot:

STING_HUMAN :
  • In absence of cGAMP, the transmembrane and cytoplasmic regions interact to form an integrated, domain-swapped dimeric assembly (By similarity). In absence of cyclic nucleotide (c-di-GMP or cGAMP), the protein is autoinhibited by an intramolecular interaction between the cyclic dinucleotide-binding domain (CBD) and the C-terminal tail (CTT) (PubMed:22579474, PubMed:22705373, PubMed:22728658, PubMed:22728660, PubMed:22728659). Following cGAMP-binding, the cyclic dinucleotide-binding domain (CBD) is closed, leading to a 180 degrees rotation of the CBD domain relative to the transmembrane domain. This rotation is coupled to a conformational change in a loop on the side of the CBD dimer, which leads to the formation of the TMEM173/STING tetramer and higher-order oligomers through side-by-side packing (By similarity). 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, PubMed:22728659).
  • Belongs to the TMEM173 family.
Domain:
  • In absence of cGAMP, the transmembrane and cytoplasmic regions interact to form an integrated, domain-swapped dimeric assembly (By similarity). In absence of cyclic nucleotide (c-di-GMP or cGAMP), the protein is autoinhibited by an intramolecular interaction between the cyclic dinucleotide-binding domain (CBD) and the C-terminal tail (CTT) (PubMed:22579474, PubMed:22705373, PubMed:22728658, PubMed:22728660, PubMed:22728659). Following cGAMP-binding, the cyclic dinucleotide-binding domain (CBD) is closed, leading to a 180 degrees rotation of the CBD domain relative to the transmembrane domain. This rotation is coupled to a conformational change in a loop on the side of the CBD dimer, which leads to the formation of the TMEM173/STING tetramer and higher-order oligomers through side-by-side packing (By similarity). 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, PubMed:22728659).
  • The pLxIS motif constitutes an IRF3-binding motif: following phosphorylation by TBK1, the phosphorylated pLxIS motif of TMEM173/STING recruits IRF3 (PubMed:25636800). IRF3 is then phosphorylated and activated by TBK1 to induce type-I interferons and other cytokines (PubMed:25636800).
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) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740, PubMed:23027953, PubMed:23910378, PubMed:23747010, PubMed:30842659). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm (PubMed:26300263). Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol (PubMed:21947006, PubMed:23258412, PubMed:23707065, PubMed:23722158, PubMed:26229117, PubMed:23910378, PubMed:23747010, PubMed:30842659). Upon binding of c-di-GMP or cGAMP, TMEM173/STING oligomerizes, translocates from the endoplasmic reticulum and is phosphorylated by TBK1 on the pLxIS motif, leading to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent anti-viral state (PubMed:22394562, PubMed:25636800, PubMed:30842653). In addition to promote the production of type I interferons, plays a direct role in autophagy (PubMed:30568238, PubMed:30842662). Following cGAMP-binding, TMEM173/STING buds from the endoplasmic reticulum into COPII vesicles, which then form the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) (PubMed:30842662). The ERGIC serves as the membrane source for WIPI2 recruitment and LC3 lipidation, leading to formation of autophagosomes that target cytosolic DNA or DNA viruses for degradation by the lysosome (PubMed:30842662). The autophagy- and interferon-inducing activities can be uncoupled and autophagy induction is independent of TBK1 phosphorylation (PubMed:30568238, PubMed:30842662). Autophagy is also triggered upon infection by bacteria: following c-di-GMP-binding, which is produced by live Gram-positive bacteria, promotes reticulophagy (By similarity). Exhibits 2',3' phosphodiester linkage-specific ligand recognition: can bind both 2'-3' linked cGAMP (2'-3'-cGAMP) and 3'-3' linked cGAMP but is preferentially activated by 2'-3' linked cGAMP (PubMed:26300263, PubMed:23910378, PubMed:23747010). The preference for 2'-3'-cGAMP, compared to other linkage isomers is probably due to the ligand itself, whichs adopts an organized free-ligand conformation that resembles the TMEM173/STING-bound conformation and pays low energy costs in changing into the active conformation (PubMed:26150511). May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons (PubMed:18724357). May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II) (By similarity).
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).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated upon binding to the hydrolysis-resistant 2'3'-cG(s)A(s)MP, an analog of cGAMP, in which phosphodiester linkages are replaced by phosphothioate linkages (PubMed:25344812). In contrast to mouse protein, not activated by anticancer molecule 5,6-dimethylxanthenone 4-acetic acid (DMXAA) (PubMed:26669264, PubMed:23910378, PubMed:25199835). Inhibited by compound 18 ([(3s,4s)-2-(4-Tert-Butyl-3-Chlorophenyl)-3-(2,3- Dihydro-1,4-Benzodioxin-6-Yl)-7-Fluoro-1-Oxo-1,2,3,4- Tetrahydroisoquinolin-4-Yl]acetate), a competite inhibitor with slow dissociation kinetics and good oral bioavailability (PubMed:30655953).

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 IPI --
GO:0035438 cyclic-di-GMP binding IEA,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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for TMEM173 - Now 50% OFF >
  • * TMEM173 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TMEM173 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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. Cytoplasm, perinuclear region. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=In response to double-stranded DNA stimulation, translocates from the endoplasmic reticulum through the endoplasmic reticulum-Golgi intermediate compartment and Golgi to post-Golgi vesicles, where the kinase TBK1 is recruited (PubMed:19433799, PubMed:30842659, PubMed:30842653, PubMed:29694889). Upon cGAMP-binding, translocates to the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) in a process that is dependent on COPII vesicles; TMEM173/STING-containing ERGIC serves as a membrane source for LC3 lipidation, which is a key step in autophagosome biogenesis (PubMed:30842662). {ECO:0000269 PubMed:19433799, ECO:0000269 PubMed:29694889, ECO:0000269 PubMed:30842653, ECO:0000269 PubMed:30842659, ECO:0000269 PubMed:30842662}.

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
endoplasmic reticulum 5
plasma membrane 4
mitochondrion 4
cytosol 2
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TMEM173 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 18818105
GO:0005768 endosome IDA 29694889
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:0000045 autophagosome assembly IDA 30568238
GO:0002218 activation of innate immune response IMP,IEA 18818105
GO:0002230 positive regulation of defense response to virus by host IMP,IBA 18818105
GO:0002376 immune system process IEA --
GO:0006915 apoptotic 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

mRNA/cDNA for TMEM173 Gene

Unigene Clusters for TMEM173 Gene

Transmembrane protein 173:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for TMEM173 - Now 50% OFF >
  • * TMEM173 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TMEM173 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 35 34
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM173 35 34
  • 85.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM173 35 34
  • 84.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem173 34
  • 77.25 (n)
mouse
(Mus musculus)
Mammalia Tmem173 17 35 34
  • 76.92 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM173 35
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM173 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM173 35 34
  • 56.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM173 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem173 34
  • 51.46 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem173 35 34
  • 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
rs1131769 benign, not specified, - 139,478,334(-) T/C coding_sequence_variant, missense_variant
rs114834699 benign, Sting-associated vasculopathy, infantile-onset 139,478,449(-) C/A coding_sequence_variant, missense_variant
rs1240603758 uncertain-significance, Sting-associated vasculopathy, infantile-onset 139,478,497(-) G/A coding_sequence_variant, missense_variant
rs140011636 likely-benign, Sting-associated vasculopathy, infantile-onset 139,481,644(-) C/T coding_sequence_variant, intron_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

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

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

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

Disorders for TMEM173 Gene

MalaCards: The human disease database

(11) 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, ECO:0000269 PubMed:25401470, ECO:0000269 PubMed:30842659}. 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. Autophagy induction via STING trafficking is a primordial function of the cGAS pathway. (PMID: 30842662) Gui X … Chen ZJ (Nature 2019) 3 4 58
  3. Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. (PMID: 30842659) Shang G … Zhang X (Nature 2019) 3 4 58
  4. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. (PMID: 29694889) Konno H … Barber GN (Cell reports 2018) 3 4 58
  5. STING directly activates autophagy to tune the innate immune response. (PMID: 30568238) Liu D … Chen Q (Cell death and differentiation 2018) 3 4 58

Products for TMEM173 Gene

Sources for TMEM173 Gene

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