LOCUS       NM_001348247            1112 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens absent in melanoma 2 (AIM2), transcript variant 2,
            mRNA.
ACCESSION   NM_001348247 XM_005245616
VERSION     NM_001348247.2
KEYWORDS    RefSeq.
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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 1112)
  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 AL359753.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001348247.1.
            
            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].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' coding
            region, resulting in the use of a downstream start codon, compared
            to variant 1. The encoded isoform (2) has a shorter N-terminus
            compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1163658.2764.1,
                                           SRR1163657.278263.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-134               AL359753.9         173501-173634       c
            135-268             AL359753.9         165436-165569       c
            269-688             AL359753.9         162778-163197       c
            689-877             AL359753.9         160354-160542       c
            878-1112            AL359753.9         159352-159586       c
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
                     /map="1q23.1-q23.2"
     gene            1..1112
                     /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..268
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..904
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     interferon-inducible protein AIM2"
                     /codon_start=1
                     /product="interferon-inducible protein AIM2 isoform 2"
                     /protein_id="NP_001335176.1"
                     /db_xref="GeneID:9447"
                     /db_xref="HGNC:HGNC:357"
                     /db_xref="MIM:604578"
                     /translation="MSPAASAAIRNDVAKQRAAPKVSPHVKPEQKQMVAQQESIREGF
                     QKRCLPVMVLKAKKPFTFETQEGKQEMFHATVATEKEFFFVKVFNTLLKDKFIPKRII
                     IIARYYRHSGFLEVNSASRVLDAESDQKVNVPLNIIRKAGETPKINTLQTQPLGTIVN
                     GLFVVQKVTEKKKNILFDLSDNTGKMEVLGVRNEDTMKCKEGDKVRLTFFTLSKNGEK
                     LQLTSGVHSTIKVIKAKKKT"
     exon            269..688
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            689..877
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1112
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1090..1095
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIM2"
                     /gene_synonym="PYHIN4"
                     /note="hexamer: AATAAA"
     polyA_site      1112
                     /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 ggagttgata agcaatacaa atcggtaaca aaaccaaagc cactaagtca
      181 agctgaaatg agtcctgctg catctgcagc catcagaaat gatgtcgcaa agcaacgtgc
      241 tgcaccaaaa gtctctcctc atgttaagcc tgaacagaaa cagatggtgg cccagcagga
      301 atctatcaga gaagggtttc agaagcgctg tttgccagtt atggtactga aagcaaagaa
      361 gcccttcacg tttgagaccc aagaaggcaa gcaggagatg tttcatgcta cagtggctac
      421 agaaaaggaa ttcttctttg taaaagtttt taatacactg ctgaaagata aattcattcc
      481 aaagagaata attataatag caagatatta tcggcacagt ggtttcttag aggtaaatag
      541 cgcctcacgt gtgttagatg ctgaatctga ccaaaaggtt aatgtcccgc tgaacattat
      601 cagaaaagct ggtgaaaccc cgaagatcaa cacgcttcaa actcagcccc ttggaacaat
      661 tgtgaatggt ttgtttgtag tccagaaggt aacagaaaag aagaaaaaca tattatttga
      721 cctaagtgac aacactggga aaatggaagt actgggggtt agaaacgagg acacaatgaa
      781 atgtaaggaa ggagataagg ttcgacttac attcttcaca ctgtcaaaaa atggagaaaa
      841 actacagctg acatctggag ttcatagcac cataaaggtt attaaggcca aaaaaaaaac
      901 atagagaagt aaaaaggacc aattcaagcc aactggtcta agcagcattt aattgaagaa
      961 tatgtgatac agcctcttca atcagattgt aagttacctg aaagctgcag ttcacaggct
     1021 cctctctcca ccaaattagg atagaataat tgctggataa acaaattcag aatatcaaca
     1081 gatgatcaca ataaacatct gtttctcatt ca
//
