Aliases for TMEM173 Gene
External Ids for TMEM173 Gene
Previous GeneCards Identifiers 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 wolfram syndrome 2. Among its related pathways are Immune System and Cytosolic sensors of pathogen-associated DNA. 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).