{ "uniprot_canonical_ac": "O14862-1", "uniprot_ac": "O14862", "uniprot_id": "AIM2_HUMAN", "mass": { "chemical_mass": 38954.0, "monoisotopic_mass": 38954.0 }, "refseq": { "ac": "NP_004824", "name": "interferon-inducible protein AIM2 isoform 1", "summary": "AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, "gene_names": [ { "name": "AIM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14862", "id": "O14862" }, { "name": "AIM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824", "id": "NP_004824" }, { "name": "PYHIN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824", "id": "NP_004824" } ], "protein_names": [ { "name": "Interferon-inducible protein AIM2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14862" }, { "name": "Absent in melanoma 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14862" }, { "name": "interferon-inducible protein AIM2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824", "id": "NP_004824" }, { "name": "interferon-inducible protein AIM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824", "id": "NP_004824" } ], "function": [ { "annotation": "AIM2 inflammasome: A potential therapeutic target in ischemic stroke. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, { "database": "PubMed", "id": "38142900", "url": "https://glygen.org/publication/PubMed/38142900" } ] }, { "annotation": "AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ] }, { "annotation": "AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-kappaB activation in oral squamous cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, { "database": "PubMed", "id": "38166970", "url": "https://glygen.org/publication/PubMed/38166970" } ] }, { "annotation": "Absent in melanoma 2 attenuates proliferation and migration and promotes apoptosis of human colorectal cancer cells by activating P38MAPK signaling pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, { "database": "PubMed", "id": "38186575", "url": "https://glygen.org/publication/PubMed/38186575" } ] }, { "annotation": "Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, { "database": "PubMed", "id": "37787533", "url": "https://glygen.org/publication/PubMed/37787533" } ] }, { "annotation": "Also acts as a tumor suppressor independently of its role in inflammatory response (PubMed:16432157). Able to suppress overt cell proliferation in enterocytes: restricts stem cell proliferation in the intestinal mucosa in an inflammasome-independent manner, contributing to a decrease in the likelihood of colorectal cancer development (By similarity). AIM2 suppresses cell proliferation by inhibiting phosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Inhibits AKT1 phosphorylation both by inhibiting the activity of PRKDC/DNA-PK kinase and promoting dephosphorylation by PP2A phosphatase (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) homeostasis by promoting their stability: acts by preventing AKT1 activation (By similarity). Its role in Treg homeostasis is important to restain autoimmune diseases (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862#function" }, { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprot/Q91VJ1#function" }, { "database": "PubMed", "id": "16432157", "url": "https://glygen.org/publication/PubMed/16432157" } ] }, { "annotation": "Sensor component of the AIM2 inflammasome, which mediates inflammasome activation in response to the presence of double-stranded DNA (dsDNA) in the cytosol, leading to subsequent pyroptosis (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:23530044, PubMed:26583071, PubMed:33980849). Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:33980849). Acts as a recognition receptor (PRR): specifically recognizes and binds dsDNA in the cytosol, and mediates the formation of the inflammasome polymeric complex composed of AIM2, CASP1 and PYCARD/ASC (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:33980849). Recruitment of pro-caspase-1 (proCASP1) to the AIM2 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831). In some cells, CASP1 activation mediates cleavage and activation of GSDMD, triggering pyroptosis without promoting cytokine secretion (PubMed:19158675, PubMed:19158676). Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:26583071, PubMed:33980849). Involved in the DNA damage response caused by acute ionizing radiation by mediating pyroptosis of intestinal epithelial cells and bone marrow cells in response to double-strand DNA breaks (By similarity). Mechanistically, AIM2 senses DNA damage in the nucleus to mediate inflammasome assembly and inflammatory cell death (By similarity). Also acts as a regulator of neurodevelopment via its role in the DNA damage response: acts by promoting neural cell death in response to DNA damage in the developing brain, thereby purging genetically compromised cells of the central nervous system (By similarity). Pyroptosis mediated by the AIM2 inflammasome in response to DNA damage is dependent on GSDMD without involving IL1B and IL18 cytokine secretion (By similarity). Also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). Can also trigger PYCARD/ASC-dependent, caspase-1-independent cell death that involves caspase-8 (CASP8) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862#function" }, { "database": "PubMed", "id": "17726700", "url": "https://glygen.org/publication/PubMed/17726700" }, { "database": "PubMed", "id": "19158676", "url": "https://glygen.org/publication/PubMed/19158676" }, { "database": "PubMed", "id": "19158679", "url": "https://glygen.org/publication/PubMed/19158679" }, { "database": "PubMed", "id": "20566831", "url": "https://glygen.org/publication/PubMed/20566831" }, { "database": "PubMed", "id": "19158675", "url": "https://glygen.org/publication/PubMed/19158675" }, { "database": "PubMed", "id": "26583071", "url": "https://glygen.org/publication/PubMed/26583071" }, { "database": "PubMed", "id": "23530044", "url": "https://glygen.org/publication/PubMed/23530044" }, { "database": "PubMed", "id": "29440442", "url": "https://glygen.org/publication/PubMed/29440442" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" }, { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprot/Q91VJ1#function" } ] }, { "annotation": "TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" }, { "database": "PubMed", "id": "37804507", "url": "https://glygen.org/publication/PubMed/37804507" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 10, "end_pos": 11, "sequence_org": "LL", "sequence_mut": "AA", "comment": "Impaired double-stranded DNA (dsDNA)-binding, preventing homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 11, "end_pos": 11, "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 147, "end_pos": 147, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly reduced ability to homooligomerize upon double-stranded DNA (dsDNA)-binding.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 14, "end_pos": 14, "sequence_org": "L", "sequence_mut": "A", "comment": "Fails to activate interleukin-1 beta production.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "19158679", "url": "https://glygen.org/publication/PubMed/19158679" } ] }, { "start_pos": 160, "end_pos": 160, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-K162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 162, "end_pos": 162, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 163, "end_pos": 163, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 165, "end_pos": 165, "sequence_org": "F", "sequence_mut": "A", "comment": "Impairs DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "19158679", "url": "https://glygen.org/publication/PubMed/19158679" } ] }, { "start_pos": 167, "end_pos": 167, "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly reduced ability to homooligomerize upon double-stranded DNA (dsDNA)-binding.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 173, "end_pos": 173, "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired double-stranded DNA (dsDNA)-binding, preventing homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 198, "end_pos": 198, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 19, "end_pos": 23, "sequence_org": "DEELD", "sequence_mut": "AAALA", "comment": "In Mut2; abolished interaction with PYCARD/ASC. Abolished ability to bind double-stranded DNA (dsDNA).", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "23530044", "url": "https://glygen.org/publication/PubMed/23530044" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 204, "end_pos": 204, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "E", "sequence_mut": "K", "comment": "Impaired ability to nucleate with PYCARD/ASC.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "D", "sequence_mut": "K", "comment": "Impaired homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 244, "end_pos": 244, "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 251, "end_pos": 251, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 258, "end_pos": 258, "sequence_org": "Q", "sequence_mut": "A", "comment": "Impaired double-stranded DNA (dsDNA)-binding, preventing homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 272, "end_pos": 272, "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly reduced ability to homooligomerize upon double-stranded DNA (dsDNA)-binding.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "F", "sequence_mut": "G", "comment": "Abolished ability to homooligomerize.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "24406744", "url": "https://glygen.org/publication/PubMed/24406744" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "F", "sequence_mut": "L", "comment": "Strongly impaired ability to homooligomerize.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "24406744", "url": "https://glygen.org/publication/PubMed/24406744" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "F", "sequence_mut": "W", "comment": "Impaired ability to homooligomerize.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "24406744", "url": "https://glygen.org/publication/PubMed/24406744" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "F", "sequence_mut": "Y", "comment": "Impaired ability to homooligomerize.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "24406744", "url": "https://glygen.org/publication/PubMed/24406744" } ] }, { "start_pos": 27, "end_pos": 28, "sequence_org": "FF", "sequence_mut": "AA", "comment": "In Mut1; abolished interaction with PYCARD/ASC.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "23530044", "url": "https://glygen.org/publication/PubMed/23530044" } ] }, { "start_pos": 309, "end_pos": 309, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 311, "end_pos": 311, "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 335, "end_pos": 335, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 337, "end_pos": 337, "sequence_org": "I", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204. Impairs DNA binding; when associated with A-160; A-162; A-163; A-198; A-204; A-244; A-251; A-309; A-311; A-355 and A-337.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "start_pos": 36, "end_pos": 36, "sequence_org": "A", "sequence_mut": "D", "comment": "Impaired homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 36, "end_pos": 36, "sequence_org": "A", "sequence_mut": "R", "comment": "Impaired homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 46, "end_pos": 46, "sequence_org": "I", "sequence_mut": "D", "comment": "Impaired homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "start_pos": 50, "end_pos": 50, "sequence_org": "T", "sequence_mut": "A", "comment": "Impaired double-stranded DNA (dsDNA)-binding, preventing homooligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "N", "sequence_mut": "L", "comment": "Impaired ability to form AIM2 inflammasome filaments in response to double-stranded DNA (dsDNA).", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": 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"database": "BioXpress", "id": "O14862", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14862" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://www.ensembl.org/id/ENSP00000357111.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 65, "end_pos": 65, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14862", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14862" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr65" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Biochemical and growth regulatory activities of the HIN-200 family member and putative tumor suppressor protein, AIM2.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2005", "authors": "Cresswell Kim S, Clarke Christopher J P, Jackson Jacob T, Darcy Phillip K, Trapani Joseph A, Johnstone Ricky W", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "15582594", "url": "https://glygen.org/publication/PubMed/15582594" } ] }, { "title": "AIM2 suppresses human breast cancer cell proliferation in vitro and mammary tumor growth in a mouse model.", "journal": "Molecular cancer therapeutics", "date": "2006-01", "authors": "Chen I-Fen, Ou-Yang Fu, Hung Jen-Yu, Liu Jaw-Ching, Wang Hongying, Wang Shao-Chun, Hou Ming-Feng, Hortobagyi Gabriel N, Hung Mien-Chie", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "16432157", "url": "https://glygen.org/publication/PubMed/16432157" } ] }, { "title": "The putative tumor suppressor AIM2 is frequently affected by different genetic alterations in microsatellite unstable colon cancers.", "journal": "Genes, chromosomes & cancer", "date": "2007-12", "authors": "Woerner Stefan M, Kloor Matthias, Schwitalle Yvette, Youmans Hanni, Doeberitz Magnus von Knebel, Gebert Johannes, Dihlmann Susanne", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "17726700", "url": "https://glygen.org/publication/PubMed/17726700" } ] }, { "title": "AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC.", "journal": "Nature", "date": "2009", "authors": "Hornung V, Ablasser A, Charrel-Dennis M, Bauernfeind F, Horvath G, Caffrey DR, Latz E, Fitzgerald KA", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158675", "url": "https://glygen.org/publication/PubMed/19158675" } ] }, { "title": "AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA.", "journal": "Nature", "date": "2009", "authors": "Fernandes-Alnemri T, Yu JW, Datta P, Wu J, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158676", "url": "https://glygen.org/publication/PubMed/19158676" } ] }, { "title": "An orthogonal proteomic-genomic screen identifies AIM2 as a cytoplasmic DNA sensor for the inflammasome.", "journal": "Nature immunology", "date": "2009", "authors": "Burckstummer T, Baumann C, Bluml S, Dixit E, Durnberger G, Jahn H, Planyavsky M, Bilban M, Colinge J, Bennett KL, Superti-Furga G", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" }, { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19158679", "url": "https://glygen.org/publication/PubMed/19158679" } ] }, { "title": "RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate.", "journal": "Nature immunology", "date": "2009", "authors": "Ablasser A, Bauernfeind F, Hartmann G, Latz E, Fitzgerald KA, Hornung V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19609254", "url": "https://glygen.org/publication/PubMed/19609254" } ] }, { "title": "RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway.", "journal": "Cell", "date": "2009", "authors": "Chiu YH, Macmillan JB, Chen ZJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1834949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949" } ], "reference": [ { "type": "PubMed", "id": "19631370", "url": "https://glygen.org/publication/PubMed/19631370" } ] }, { "title": "Involvement of absent in melanoma 2 in inflammasome activation in macrophages infected with Listeria monocytogenes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010-07-15", "authors": "Tsuchiya Kohsuke, Hara Hideki, Kawamura Ikuo, Nomura Takamasa, Yamamoto Takeshi, Daim Sylvia, Dewamitta Sita R, Shen Yanna, Fang Rendong, Mitsuyama Masao", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "20566831", "url": "https://glygen.org/publication/PubMed/20566831" } ] }, { "title": "Cutting edge: Ku70 is a novel cytosolic DNA sensor that induces type III rather than type I IFN.", "journal": 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"title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] }, { "title": "Novel role of PKR in inflammasome activation and HMGB1 release.", "journal": "Nature", "date": "2012", "authors": "Lu B, Nakamura T, Inouye K, Li J, Tang Y, Lundback P, Valdes-Ferrer SI, Olofsson PS, Kalb T, Roth J, Zou Y, Erlandsson-Harris H, Yang H, Ting JP, Wang H, Andersson U, Antoine DJ, Chavan SS, Hotamisligil GS, Tracey KJ", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "22801494", "url": "https://glygen.org/publication/PubMed/22801494" } ] }, { "title": "Interactome-wide analysis identifies end-binding protein 1 as a crucial component for the speck-like particle formation of activated AIM2 inflammasomes.", "journal": "Mol. 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Immunol.", "date": "2014", "authors": "Khare S, Ratsimandresy RA, de Almeida L, Cuda CM, Rellick SL, Misharin AV, Wallin MC, Gangopadhyay A, Forte E, Gottwein E, Perlman H, Reed JC, Greaves DR, Dorfleutner A, Stehlik C", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "24531343", "url": "https://glygen.org/publication/PubMed/24531343" } ] }, { "title": "Assembly-driven activation of the AIM2 foreign-dsDNA sensor provides a polymerization template for downstream ASC.", "journal": "Nature communications", "date": "2015-07-22", "authors": "Morrone Seamus R, Matyszewski Mariusz, Yu Xiong, Delannoy Michael, Egelman Edward H, Sohn Jungsan", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "26197926", "url": "https://glygen.org/publication/PubMed/26197926" } ] }, { "title": "Plasticity in PYD assembly revealed by cryo-EM structure of the PYD filament of AIM2.", "journal": "Cell discovery", "date": "2015", "authors": "Lu Alvin, Li Yang, Yin Qian, Ruan Jianbin, Yu Xiong, Egelman Edward, Wu Hao", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "26583071", "url": "https://glygen.org/publication/PubMed/26583071" } ] }, { "title": "TRIM11 Suppresses AIM2 Inflammasome by Degrading AIM2 via p62-Dependent Selective Autophagy.", "journal": "Cell reports", "date": "2016", "authors": "Liu T, Tang Q, Liu K, Xie W, Liu X, Wang H, Wang RF, Cui J", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "27498865", "url": "https://glygen.org/publication/PubMed/27498865" } ] }, { "title": "Digital signaling network drives the assembly of the AIM2-ASC inflammasome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018-02-27", "authors": "Matyszewski Mariusz, Morrone Seamus R, Sohn Jungsan", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "29440442", "url": "https://glygen.org/publication/PubMed/29440442" } ] }, { "title": "Distinct axial and lateral interactions within homologous filaments dictate the signaling specificity and order of the AIM2-ASC inflammasome.", "journal": "Nature communications", "date": "2021-05-12", "authors": "Matyszewski Mariusz, Zheng Weili, Lueck Jacob, Mazanek Zachary, Mohideen Naveen, Lau Albert Y, Egelman Edward H, Sohn Jungsan", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "33980849", "url": "https://glygen.org/publication/PubMed/33980849" } ] }, { "title": "Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.", "journal": "Journal of virology", "date": "2023-10-31", "authors": "Li Yongqi, Yang Yang, Li Tianyang, Wang Zhengmin, Gao Chunfeng, Deng Rilin, Ma Faxiang, Li Xinyang, Ma Licong, Tian Renyun, Li Huiyi, Zhu Haizhen, Zeng Lei, Gao Yanhang, Lv Guoyue, Niu Junqi, Crispe Ian Nicholas, Tu Zhengkun", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ], "reference": [ { "type": "PubMed", "id": "37787533", "url": "https://glygen.org/publication/PubMed/37787533" } ] }, { "title": "TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.", "journal": "Cell reports", "date": "2023-10-31", "authors": "Yu Ting, Yang Xiaofang, Fu Qiang, Liang Junyu, Wu Xinger, Sheng Junli, Chen Yitian, Xiao Lu, Wu Yuxia, Nie Dingnai, You Xiaolong, Mai Haiyan, Chen Kang, Hu Shengfeng", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ], "reference": [ { "type": "PubMed", "id": "37804507", "url": "https://glygen.org/publication/PubMed/37804507" } ] }, { "title": "AIM2 inflammasome: A potential therapeutic target in ischemic stroke.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2023-12-23", "authors": "Fu Rong, Zhao Linna, Guo Yuying, Qin Xiaoli, Xu Wenzhe, Cheng Xueqi, Zhang Yunsha, Xu Shixin", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ], "reference": [ { "type": "PubMed", "id": "38142900", "url": "https://glygen.org/publication/PubMed/38142900" } ] }, { "title": "AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-\u03baB activation in oral squamous cell carcinoma.", "journal": "Journal of translational medicine", "date": "2024-01-03", "authors": "Chiu Hui-Wen, Lee Hsin-Lun, Lee Hsun-Hua, Lu Hsiao-Wei, Lin Kent Yu-Hsien, Lin Yuan-Feng, Lin Che-Hsuan", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ], "reference": [ { "type": "PubMed", "id": "38166970", "url": "https://glygen.org/publication/PubMed/38166970" } ] }, { "title": "Absent in melanoma 2 attenuates proliferation and migration and promotes apoptosis of human colorectal cancer cells by activating P38MAPK signaling pathway.", "journal": "Oncology research", "date": "2023", "authors": "Zhang Zhi, Li Xiaosong, Zhang Ying, Zhu Hao, Qiao Zhenguo, Lu Yang, Mi Xiuwei, Cao Huihua, Shen Genhai, He Songbing", "evidence": [ { "database": "RefSeq", "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824" } ], "reference": [ { "type": "PubMed", "id": "38186575", "url": "https://glygen.org/publication/PubMed/38186575" } ] }, { "title": "Interferon action: cytoplasmic and nuclear localization of the interferon-inducible 52-kD protein that is encoded by the Ifi 200 gene from the gene 200 cluster.", "journal": "J. Interferon Res.", "date": "1993", "authors": "Choubey D, Lengyel P", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "8454910", "url": "https://glygen.org/publication/PubMed/8454910" } ] }, { "title": "Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma.", "journal": "Oncogene", "date": "1997", "authors": "DeYoung K L, Ray M E, Su Y A, Anzick S L, Johnstone R W, Trapani J A, Meltzer P S, Trent J M", "evidence": [ { "database": "UniProtKB", "id": "O14862", "url": "https://www.uniprot.org/uniprot/O14862" } ], "reference": [ { "type": "PubMed", "id": "9242382", "url": "https://glygen.org/publication/PubMed/9242382" } ] } ], "pathway": [ { "id": "R-HSA-1834949", "name": "Cytosolic sensors of pathogen-associated DNA", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834949", "resource": 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