LOCUS       NM_001042376             831 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2,
            mRNA.
ACCESSION   NM_001042376
VERSION     NM_001042376.3
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 831)
  AUTHORS   Jian,X. and Felsenfeld,G.
  TITLE     Large parental differences in chromatin organization in pancreatic
            beta cell line explaining diabetes susceptibility effects
  JOURNAL   Nat Commun 12 (1), 4338 (2021)
   PUBMED   34267199
  REMARK    GeneRIF: Large parental differences in chromatin organization in
            pancreatic beta cell line explaining diabetes susceptibility
            effects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 831)
  AUTHORS   Masuda,T., Low,S.K., Akiyama,M., Hirata,M., Ueda,Y., Matsuda,K.,
            Kimura,T., Murakami,Y., Kubo,M., Kamatani,Y. and Okada,Y.
  TITLE     GWAS of five gynecologic diseases and cross-trait analysis in
            Japanese
  JOURNAL   Eur J Hum Genet 28 (1), 95-107 (2020)
   PUBMED   31488892
  REMARK    GeneRIF: GWAS of five gynecologic diseases and cross-trait analysis
            in Japanese.
REFERENCE   3  (bases 1 to 831)
  AUTHORS   Gao,S., Lin,Z., Li,C., Wang,Y., Yang,L., Zou,B., Chen,J., Li,J.,
            Feng,D., Song,Z. and Liu,G.
  TITLE     lncINS-IGF2 Promotes Cell Proliferation and Migration by Promoting
            G1/S Transition in Lung Cancer
  JOURNAL   Technol Cancer Res Treat 18, 1533033818823029 (2019)
   PUBMED   30803359
  REMARK    GeneRIF: High INS-IGF2 expression is associated with Lung Cancer.
REFERENCE   4  (bases 1 to 831)
  AUTHORS   Ng,M.C., Shriner,D., Chen,B.H., Li,J., Chen,W.M., Guo,X., Liu,J.,
            Bielinski,S.J., Yanek,L.R., Nalls,M.A., Comeau,M.E.,
            Rasmussen-Torvik,L.J., Jensen,R.A., Evans,D.S., Sun,Y.V., An,P.,
            Patel,S.R., Lu,Y., Long,J., Armstrong,L.L., Wagenknecht,L.,
            Yang,L., Snively,B.M., Palmer,N.D., Mudgal,P., Langefeld,C.D.,
            Keene,K.L., Freedman,B.I., Mychaleckyj,J.C., Nayak,U., Raffel,L.J.,
            Goodarzi,M.O., Chen,Y.D., Taylor,H.A. Jr., Correa,A., Sims,M.,
            Couper,D., Pankow,J.S., Boerwinkle,E., Adeyemo,A., Doumatey,A.,
            Chen,G., Mathias,R.A., Vaidya,D., Singleton,A.B., Zonderman,A.B.,
            Igo,R.P. Jr., Sedor,J.R., Kabagambe,E.K., Siscovick,D.S.,
            McKnight,B., Rice,K., Liu,Y., Hsueh,W.C., Zhao,W., Bielak,L.F.,
            Kraja,A., Province,M.A., Bottinger,E.P., Gottesman,O., Cai,Q.,
            Zheng,W., Blot,W.J., Lowe,W.L., Pacheco,J.A., Crawford,D.C.,
            Grundberg,E., Rich,S.S., Hayes,M.G., Shu,X.O., Loos,R.J.,
            Borecki,I.B., Peyser,P.A., Cummings,S.R., Psaty,B.M., Fornage,M.,
            Iyengar,S.K., Evans,M.K., Becker,D.M., Kao,W.H., Wilson,J.G.,
            Rotter,J.I., Sale,M.M., Liu,S., Rotimi,C.N. and Bowden,D.W.
  CONSRTM   FIND Consortium; eMERGE Consortium; DIAGRAM Consortium; MuTHER
            Consortium; MEta-analysis of type 2 DIabetes in African Americans
            Consortium
  TITLE     Meta-analysis of genome-wide association studies in African
            Americans provides insights into the genetic architecture of type 2
            diabetes
  JOURNAL   PLoS Genet 10 (8), e1004517 (2014)
   PUBMED   25102180
  REMARK    GeneRIF: We identified three known loci (TCF7L2, HMGA2 and KCNQ1)
            and two novel loci (HLA-B and INS-IGF2) at genome-wide significance
            (4.15 x 10(-94)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 831)
  AUTHORS   Obermann-Borst,S.A., Heijmans,B.T., Eilers,P.H., Tobi,E.W.,
            Steegers,E.A., Slagboom,P.E. and Steegers-Theunissen,R.P.
  TITLE     Periconception maternal smoking and low education are associated
            with methylation of INSIGF in children at the age of 17 months
  JOURNAL   J Dev Orig Health Dis 3 (5), 315-320 (2012)
   PUBMED   25102259
  REMARK    GeneRIF: Periconception maternal smoking and low education are
            associated with dna methylation on INSIGF in the very young child.
REFERENCE   6  (bases 1 to 831)
  AUTHORS   Monk,D., Sanches,R., Arnaud,P., Apostolidou,S., Hills,F.A.,
            Abu-Amero,S., Murrell,A., Friess,H., Reik,W., Stanier,P.,
            Constancia,M. and Moore,G.E.
  TITLE     Imprinting of IGF2 P0 transcript and novel alternatively spliced
            INS-IGF2 isoforms show differences between mouse and human
  JOURNAL   Hum Mol Genet 15 (8), 1259-1269 (2006)
   PUBMED   16531418
REFERENCE   7  (bases 1 to 831)
  AUTHORS   Polychronakos,C., Kukuvitis,A., Giannoukakis,N. and Colle,E.
  TITLE     Parental imprinting effect at the INS-IGF2 diabetes susceptibility
            locus
  JOURNAL   Diabetologia 38 (6), 715-719 (1995)
   PUBMED   7672495
REFERENCE   8  (bases 1 to 831)
  AUTHORS   Polychronakos,C., Giannoukakis,N. and Deal,C.L.
  TITLE     Imprinting of IGF2, insulin-dependent diabetes, immune function,
            and apoptosis: a hypothesis
  JOURNAL   Dev Genet 17 (3), 253-262 (1995)
   PUBMED   8565331
REFERENCE   9  (bases 1 to 831)
  AUTHORS   Mannens,M., Hoovers,J.M., Redeker,E., Verjaal,M., Feinberg,A.P.,
            Little,P., Boavida,M., Coad,N., Steenman,M., Bliek,J. et al.
  TITLE     Parental imprinting of human chromosome region 11p15.3-pter
            involved in the Beckwith-Wiedemann syndrome and various human
            neoplasia
  JOURNAL   Eur J Hum Genet 2 (1), 3-23 (1994)
   PUBMED   7913866
REFERENCE   10 (bases 1 to 831)
  AUTHORS   Cox,N.J., Bell,G.I. and Xiang,K.S.
  TITLE     Linkage disequilibrium in the human insulin/insulin-like growth
            factor II region of human chromosome II
  JOURNAL   Am J Hum Genet 43 (4), 495-501 (1988)
   PUBMED   2902788
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ104204.1, AC132217.15 and
            BQ128162.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001042376.2.
            
            Summary: This locus includes two alternatively spliced read-through
            transcript variants which align to the INS gene in the 5' region
            and to the IGF2 gene in the 3' region. One transcript is predicted
            to encode a protein which shares the N-terminus with the INS
            protein but has a distinct and longer C-terminus, whereas the other
            transcript is a candidate for nonsense-mediated decay (NMD). The
            transcripts are imprinted and are paternally expressed in the limb
            and eye. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2, also known as INSIGF short)
            represents the shorter transcript and is protein-coding.
            
            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 :: DQ104204.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 16531418
            readthrough transcript :: includes exons from GeneID 3481, 3630
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-489               DQ104204.1         1-489
            490-490             AC132217.15        99844-99844
            491-828             DQ104204.1         491-828
            829-831             BQ128162.1         17-19               c
FEATURES             Location/Qualifiers
     source          1..831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..831
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /note="INS-IGF2 readthrough"
                     /db_xref="GeneID:723961"
                     /db_xref="HGNC:HGNC:33527"
     exon            1..42
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /inference="alignment:Splign:2.1.0"
     exon            43..246
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..662
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /note="INS-IGF2 readthrough transcript protein; insulin-
                     insulin-like growth factor 2 read-through product"
                     /codon_start=1
                     /product="insulin, isoform 2 precursor"
                     /protein_id="NP_001035835.1"
                     /db_xref="GeneID:723961"
                     /db_xref="HGNC:HGNC:33527"
                     /translation="MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCG
                     ERGFFYTPKTRREAEDLQASALSLSSSTSTWPEGLDATARAPPALVVTANIGQAGGSS
                     SRQFRQRALGTSDSPVLFIHCPGAAGTAQGLEYRGRRVTTELVWEEVDSSPQPQGSES
                     LPAQPPAQPAPQPEPQQAREPSPEVSCCGLWPRRPQRSQN"
     exon            247..466
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /inference="alignment:Splign:2.1.0"
     exon            467..708
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /inference="alignment:Splign:2.1.0"
     exon            709..831
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      812..817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /note="hexamer: AATAAA"
     polyA_site      831
                     /gene="INS-IGF2"
                     /gene_synonym="INSIGF"
                     /note="major polyA site"
ORIGIN      
        1 agccctccag gacaggctgc atcagaagag gccatcaagc agatcactgt ccttctgcca
       61 tggccctgtg gatgcgcctc ctgcccctgc tggcgctgct ggccctctgg ggacctgacc
      121 cagccgcagc ctttgtgaac caacacctgt gcggctcaca cctggtggaa gctctctacc
      181 tagtgtgcgg ggaacgaggc ttcttctaca cacccaagac ccgccgggag gcagaggacc
      241 tgcaggcctc agctttgtcc ctctcctcct ccacgtcaac ctggccagag ggtctggacg
      301 ccacagccag ggcaccccct gctttggtgg tgactgctaa tattggccag gccggcggat
      361 catcgtccag gcagtttcgg cagagagcct tgggcaccag tgactccccg gtcctcttta
      421 tccactgtcc aggagctgcg gggactgcgc agggactaga gtacaggggc cgaagagtca
      481 ccaccgagct tgtgtgggag gaggtggatt ccagccccca gccccagggc tctgaatcgc
      541 tgccagctca gccccctgcc cagcctgccc cacagcctga gccccagcag gccagagagc
      601 ccagtcctga ggtgagctgc tgtggcctgt ggcccaggcg accccagcgc tcccagaact
      661 gaggctggca gccagcccca gcctcagccc caactgcgag gcagagaggg cctgcaggga
      721 gggatccagc aggtgactct tcaggctgat ttgcccatcc cagatagaag ccgggagtgt
      781 tctttcaaag gtgtctttac cttagacact caataaaatg gtaacacagt g
//
