LOCUS       NM_004833               1394 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens absent in melanoma 2 (AIM2), transcript variant 1,
            mRNA.
ACCESSION   NM_004833
VERSION     NM_004833.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1394)
  AUTHORS   Zhao,Y., Liang,B., Sheng,S., Wang,C., Jin,B., Zhang,X., Cheng,Y.,
            Shen,C. and Zheng,F.
  TITLE     AIM2 inflammasome regulated by the IFN-gamma/JAK2/STAT1 pathway
            promotes activation and pyroptosis of monocytes in Coronary Artery
            Disease
  JOURNAL   Immun Inflamm Dis 12 (6), e1317 (2024)
   PUBMED   38869352
  REMARK    GeneRIF: AIM2 inflammasome regulated by the IFN-gamma/JAK2/STAT1
            pathway promotes activation and pyroptosis of monocytes in Coronary
            Artery Disease.
REFERENCE   2  (bases 1 to 1394)
  AUTHORS   Alanazi,M., Weng,T., McLeod,L., Gearing,L.J., Smith,J.A., Kumar,B.,
            Saad,M.I. and Jenkins,B.J.
  TITLE     Cytosolic DNA sensor AIM2 promotes KRAS-driven lung cancer
            independent of inflammasomes
  JOURNAL   Cancer Sci 115 (6), 1834-1850 (2024)
   PUBMED   38594840
  REMARK    GeneRIF: Cytosolic DNA sensor AIM2 promotes KRAS-driven lung cancer
            independent of inflammasomes.
REFERENCE   3  (bases 1 to 1394)
  AUTHORS   Zhuo,S., Song,S., Wang,C., Wang,Z., Zhang,M., Lin,D. and Chen,K.
  TITLE     Inflammatory corpuscle AIM2 facilitates macrophage foam cell
            formation by inhibiting cholesterol efflux protein ABCA1
  JOURNAL   Sci Rep 14 (1), 10782 (2024)
   PUBMED   38734775
  REMARK    GeneRIF: Inflammatory corpuscle AIM2 facilitates macrophage foam
            cell formation by inhibiting cholesterol efflux protein ABCA1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1394)
  AUTHORS   Caproni,A., Nordi,C., Fontana,R., Facchini,M., Melija,S.,
            Pappada,M., Buratto,M. and Marconi,P.
  TITLE     Herpes Simplex Virus ICP27 Protein Inhibits AIM 2-Dependent
            Inflammasome Influencing Pro-Inflammatory Cytokines Release in
            Human Pigment Epithelial Cells (hTert-RPE 1)
  JOURNAL   Int J Mol Sci 25 (9), 4608 (2024)
   PUBMED   38731826
  REMARK    GeneRIF: Herpes Simplex Virus ICP27 Protein Inhibits AIM
            2-Dependent Inflammasome Influencing Pro-Inflammatory Cytokines
            Release in Human Pigment Epithelial Cells (hTert-RPE 1).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1394)
  AUTHORS   Arnett,E., Wolff,J., Leopold Wager,C.M., Simper,J., Badrak,J.L.,
            Ontiveros,C.O., Ni,B. and Schlesinger,L.S.
  TITLE     Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome
            Proliferator-activated Receptor gamma following Mycobacterium
            tuberculosis Infection of Human Macrophages but Does Not Contribute
            to IL-1beta Release
  JOURNAL   J Immunol 212 (5), 765-770 (2024)
   PUBMED   38251918
  REMARK    GeneRIF: Cutting Edge: Cytosolic Receptor AIM2 Is Induced by
            Peroxisome Proliferator-activated Receptor gamma following
            Mycobacterium tuberculosis Infection of Human Macrophages but Does
            Not Contribute to IL-1beta Release.
REFERENCE   6  (bases 1 to 1394)
  AUTHORS   Choubey,D., Walter,S., Geng,Y. and Xin,H.
  TITLE     Cytoplasmic localization of the interferon-inducible protein that
            is encoded by the AIM2 (absent in melanoma) gene from the 200-gene
            family
  JOURNAL   FEBS Lett 474 (1), 38-42 (2000)
   PUBMED   10828447
REFERENCE   7  (bases 1 to 1394)
  AUTHORS   Landolfo,S., Gariglio,M., Gribaudo,G. and Lembo,D.
  TITLE     The Ifi 200 genes: an emerging family of IFN-inducible genes
  JOURNAL   Biochimie 80 (8-9), 721-728 (1998)
   PUBMED   9865494
  REMARK    Review article
REFERENCE   8  (bases 1 to 1394)
  AUTHORS   DeYoung,K.L., Ray,M.E., Su,Y.A., Anzick,S.L., Johnstone,R.W.,
            Trapani,J.A., Meltzer,P.S. and Trent,J.M.
  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 15 (4), 453-457 (1997)
   PUBMED   9242382
REFERENCE   9  (bases 1 to 1394)
  AUTHORS   Ray,M.E., Su,Y.A., Meltzer,P.S. and Trent,J.M.
  TITLE     Isolation and characterization of genes associated with
            chromosome-6 mediated tumor suppression in human malignant melanoma
  JOURNAL   Oncogene 12 (12), 2527-2533 (1996)
   PUBMED   8700511
REFERENCE   10 (bases 1 to 1394)
  AUTHORS   Choubey,D. and Lengyel,P.
  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 13 (1), 43-52 (1993)
   PUBMED   8454910
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF024714.1 and BC010940.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004833.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292042.1, BC010940.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368130.9/ ENSP00000357112.4
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1393              AF024714.1         92-1484
            1394-1394           BC010940.1         1489-1489
FEATURES             Location/Qualifiers
     source          1..1394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
                     /map="1q23.1-q23.2"
     gene            1..1394
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="absent in melanoma 2"
                     /db_xref="GeneID:9447"
                     /db_xref="HGNC:HGNC:357"
                     /db_xref="MIM:604578"
     exon            1..134
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            135..416
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..1186
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     interferon-inducible protein AIM2"
                     /codon_start=1
                     /product="interferon-inducible protein AIM2 isoform 1"
                     /protein_id="NP_004824.1"
                     /db_xref="CCDS:CCDS1181.1"
                     /db_xref="GeneID:9447"
                     /db_xref="HGNC:HGNC:357"
                     /db_xref="MIM:604578"
                     /translation="MESKYKEILLLTGLDNITDEELDRFKFFLSDEFNIATGKLHTAN
                     RIQVATLMIQNAGAVSAVMKTIRIFQKLNYMLLAKRLQEEKEKVDKQYKSVTKPKPLS
                     QAEMSPAASAAIRNDVAKQRAAPKVSPHVKPEQKQMVAQQESIREGFQKRCLPVMVLK
                     AKKPFTFETQEGKQEMFHATVATEKEFFFVKVFNTLLKDKFIPKRIIIIARYYRHSGF
                     LEVNSASRVLDAESDQKVNVPLNIIRKAGETPKINTLQTQPLGTIVNGLFVVQKVTEK
                     KKNILFDLSDNTGKMEVLGVRNEDTMKCKEGDKVRLTFFTLSKNGEKLQLTSGVHSTI
                     KVIKAKKKT"
     exon            417..550
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            551..970
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1159
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1394
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1372..1377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="hexamer: AATAAA"
     polyA_site      1394
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="major polyA site"
ORIGIN      
        1 agaagtgtca gagtctttgt agctttgaaa gtcacctagg ttatttgggc atgctctcct
       61 gagtcctctg ctagttaagc tctctgaaaa gaaggtggca gacccggttt gctgatcgcc
      121 ccagggatca ggaggctgat cccaaagttg tcagatggag agtaaataca aggagatact
      181 cttgctaaca ggcctggata acatcactga tgaggaactg gataggttta agttctttct
      241 ttcagacgag tttaatattg ccacaggcaa actacatact gcaaacagaa tacaagtagc
      301 taccttgatg attcaaaatg ctggggcggt gtctgcagtg atgaagacca ttcgtatttt
      361 tcagaagttg aattatatgc ttttggcaaa acgtcttcag gaggagaagg agaaagttga
      421 taagcaatac aaatcggtaa caaaaccaaa gccactaagt caagctgaaa tgagtcctgc
      481 tgcatctgca gccatcagaa atgatgtcgc aaagcaacgt gctgcaccaa aagtctctcc
      541 tcatgttaag cctgaacaga aacagatggt ggcccagcag gaatctatca gagaagggtt
      601 tcagaagcgc tgtttgccag ttatggtact gaaagcaaag aagcccttca cgtttgagac
      661 ccaagaaggc aagcaggaga tgtttcatgc tacagtggct acagaaaagg aattcttctt
      721 tgtaaaagtt tttaatacac tgctgaaaga taaattcatt ccaaagagaa taattataat
      781 agcaagatat tatcggcaca gtggtttctt agaggtaaat agcgcctcac gtgtgttaga
      841 tgctgaatct gaccaaaagg ttaatgtccc gctgaacatt atcagaaaag ctggtgaaac
      901 cccgaagatc aacacgcttc aaactcagcc ccttggaaca attgtgaatg gtttgtttgt
      961 agtccagaag gtaacagaaa agaagaaaaa catattattt gacctaagtg acaacactgg
     1021 gaaaatggaa gtactggggg ttagaaacga ggacacaatg aaatgtaagg aaggagataa
     1081 ggttcgactt acattcttca cactgtcaaa aaatggagaa aaactacagc tgacatctgg
     1141 agttcatagc accataaagg ttattaaggc caaaaaaaaa acatagagaa gtaaaaagga
     1201 ccaattcaag ccaactggtc taagcagcat ttaattgaag aatatgtgat acagcctctt
     1261 caatcagatt gtaagttacc tgaaagctgc agttcacagg ctcctctctc caccaaatta
     1321 ggatagaata attgctggat aaacaaattc agaatatcaa cagatgatca caataaacat
     1381 ctgtttctca ttca
//
