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    TMEM173 transmembrane protein 173 [ Homo sapiens (human) ]

    Gene ID: 340061, updated on 14-Jan-2018
    Official Symbol
    TMEM173provided by HGNC
    Official Full Name
    transmembrane protein 173provided by HGNC
    Primary source
    HGNC:HGNC:27962
    See related
    Ensembl:ENSG00000184584 MIM:612374; Vega:OTTHUMG00000129239
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERIS; MITA; MPYS; SAVI; NET23; STING; hMITA; hSTING
    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 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]
    Expression
    Ubiquitous expression in lung (RPKM 37.4), spleen (RPKM 28.8) and 24 other tissues See more
    Orthologs
    Location:
    5q31.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (139475528..139482790, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138855113..138862343, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U5B small nuclear 4, pseudogene Neighboring gene endothelial cell surface expressed chemotaxis and apoptosis regulator Neighboring gene cancer-related nucleoside-triphosphatase pseudogene Neighboring gene nuclear receptor coactivator 4 pseudogene 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Sting-associated vasculopathy, infantile-onset
    MedGen: C4014722 OMIM: 615934 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr antagonizes TMEM173 (STING)-mediated innate immune recognition in TZM-bl STING cells (TZM-bl cells engineered to express TMEM173 (STING)) PubMed

    Go to the HIV-1, Human Interaction Database

    • Cytosolic DNA-sensing pathway, organism-specific biosystem (from KEGG)
      Cytosolic DNA-sensing pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
    • Cytosolic DNA-sensing pathway, conserved biosystem (from KEGG)
      Cytosolic DNA-sensing pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
    • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
      Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
    • IRF3-mediated induction of type I IFN, organism-specific biosystem (from REACTOME)
      IRF3-mediated induction of type I IFN, organism-specific biosystemTANK-binding kinase 1 (TBK1) and interferon regulatory factor 3 (IRF3) are central regulators of type-I interferon induction during bacterial or viral infection. TBK1 was found to form complexes with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • RIG-I-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
      RIG-I-like Receptor Signaling, organism-specific biosystemViral pathogen RNA are recognized by host helicases called RIG-I-like receptors (RLRs) that include DDX58 (RIG-I), DHX58 (LGP2), IFIH1 (MDA5), SNW1, and DDX17. These RLR proteins then go on to initia...
    • RIG-I-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      RIG-I-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
    • RIG-I-like receptor signaling pathway, conserved biosystem (from KEGG)
      RIG-I-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
    • Regulation of innate immune responses to cytosolic DNA, organism-specific biosystem (from REACTOME)
      Regulation of innate immune responses to cytosolic DNA, organism-specific biosystemInnate immune responses are coordinated and regulated to provide an efficient first line of defense against pathogens and at the same time to prevent host self-damage. Here we present some regulatory...
    • STAT6-mediated induction of chemokines, organism-specific biosystem (from REACTOME)
      STAT6-mediated induction of chemokines, organism-specific biosystemSignal transducer and activator of transcription 6 (STAT6) may function as a signaling molecule and as a transcription factor. The canonical activation of STAT6 in IL4 and IL13 signaling pathways is ...
    • STING mediated induction of host immune responses, organism-specific biosystem (from REACTOME)
      STING mediated induction of host immune responses, organism-specific biosystemSTING (stimulator of IFN genes; also known as MITA/ERIS/MPYS/TMEM173) is an endoplasmic reticulum (ER) resident, which is required for effective type I IFN production in response to nucleic acids. In...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ38577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cyclic-GMP-AMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cyclic-GMP-AMP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cyclic-di-GMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to exogenous dsRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to interferon-beta IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interferon-beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein import into nucleus, translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription factor import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peroxisome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    stimulator of interferon genes protein
    Names
    N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner
    endoplasmic reticulum IFN stimulator
    endoplasmic reticulum interferon stimulator
    mitochondrial mediator of IRF3 activation

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034249.1 RefSeqGene

      Range
      5001..12263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301738.1NP_001288667.1  stimulator of interferon genes protein isoform 2

      See identical proteins and their annotated locations for NP_001288667.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter 5' UTR and lacks an exon in the 3' coding region which results in a frameshift. The encoded isoform (2) has a shorter and distinct C-terminus.
      Source sequence(s)
      AC138517, AK095896, BE548954, BM981219, KF430638
      UniProtKB/TrEMBL
      V5V0K2
      Conserved Domains (1) summary
      pfam15009
      Location:44253
      TMEM173; Transmembrane protein 173
    2. NM_198282.3NP_938023.1  stimulator of interferon genes protein isoform 1

      See identical proteins and their annotated locations for NP_938023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC138517, BC047779, BM981219
      Consensus CDS
      CCDS4215.1
      UniProtKB/Swiss-Prot
      Q86WV6
      Related
      ENSP00000331288.4, OTTHUMP00000159544, ENST00000330794.8, OTTHUMT00000251338
      Conserved Domains (1) summary
      pfam15009
      Location:44337
      TMEM173; Transmembrane protein 173

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      139475528..139482790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537640.2XP_011535942.1  stimulator of interferon genes protein isoform X3

      Conserved Domains (1) summary
      pfam15009
      Location:1218
      TMEM173; Transmembrane protein 173
    2. XM_005268445.3XP_005268502.1  stimulator of interferon genes protein isoform X1

      See identical proteins and their annotated locations for XP_005268502.1

      Conserved Domains (1) summary
      pfam15009
      Location:44253
      TMEM173; Transmembrane protein 173
    3. XM_011537639.2XP_011535941.1  stimulator of interferon genes protein isoform X2

      Related
      ENSP00000427455.1, OTTHUMP00000223442, ENST00000510817.1, OTTHUMT00000372331
      Conserved Domains (1) summary
      pfam15009
      Location:44253
      TMEM173; Transmembrane protein 173

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      138287678..138294947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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