IG2AS_HUMAN
ID IG2AS_HUMAN Reviewed; 168 AA.
AC Q6U949; A5PKV8; A6NNQ2; Q7Z712; Q9P2W0;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 25-MAY-2022, entry version 97.
DE RecName: Full=Putative insulin-like growth factor 2 antisense gene protein;
DE AltName: Full=IGF2 antisense RNA 1;
DE AltName: Full=IGF2 antisense gene protein 1;
DE AltName: Full=PEG8/IGF2AS protein;
DE AltName: Full=Putative insulin-like growth factor 2 antisense gene protein 1;
DE Short=IGF2-AS1;
GN Name=IGF2-AS; Synonyms=IGF2-AS1, IGF2AS;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS VAL-125 AND ALA-150.
RC TISSUE=Kidney;
RX PubMed=10731720; DOI=10.1093/oxfordjournals.jbchem.a022630;
RA Okutsu T., Kuroiwa Y., Kagitani F., Kai M., Aisaka K., Tsutsumi O.,
RA Kaneko Y., Yokomori K., Surani M.A., Kohda T., Kaneko-Ishino T., Ishino F.;
RT "Expression and imprinting status of human PEG8/IGF2AS, a paternally
RT expressed antisense transcript from the IGF2 locus, in Wilms' tumors.";
RL J. Biochem. 127:475-483(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS VAL-125 AND ALA-150.
RX PubMed=12702581;
RA Vu T.H., Chuyen N.V., Li T., Hoffman A.R.;
RT "Loss of imprinting of IGF2 sense and antisense transcripts in Wilms'
RT tumor.";
RL Cancer Res. 63:1900-1905(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-106; THR-112; VAL-125
RP AND ALA-150.
RG SeattleSNPs variation discovery resource;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- DEVELOPMENTAL STAGE: Overexpressed in Wilms' tumor samples.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90470.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/igf2as/";
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DR EMBL; AB030733; BAA90470.1; ALT_FRAME; mRNA.
DR EMBL; AY149295; AAP50262.1; -; mRNA.
DR EMBL; AY375532; AAQ86595.1; -; Genomic_DNA.
DR EMBL; AC132217; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC142634; AAI42635.1; -; mRNA.
DR EMBL; BC142691; AAI42692.1; -; mRNA.
DR PIR; JC7217; JC7217.
DR AlphaFoldDB; Q6U949; -.
DR BioMuta; HGNC:14062; -.
DR DMDM; 126302557; -.
DR MassIVE; Q6U949; -.
DR PeptideAtlas; Q6U949; -.
DR PRIDE; Q6U949; -.
DR ProteomicsDB; 67400; -.
DR GeneCards; IGF2-AS; -.
DR HGNC; HGNC:14062; IGF2-AS.
DR MIM; 610146; gene.
DR neXtProt; NX_Q6U949; -.
DR InParanoid; Q6U949; -.
DR PhylomeDB; Q6U949; -.
DR TreeFam; TF341861; -.
DR PathwayCommons; Q6U949; -.
DR Pharos; Q6U949; Tdark.
DR PRO; PR:Q6U949; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q6U949; protein.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..168
FT /note="Putative insulin-like growth factor 2 antisense gene
FT protein"
FT /id="PRO_0000076224"
FT REGION 1..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 108..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 106
FT /note="S -> I (in dbSNP:rs17883406)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_024844"
FT VARIANT 112
FT /note="P -> T (in dbSNP:rs17883142)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_024845"
FT VARIANT 125
FT /note="F -> V (in dbSNP:rs1003483)"
FT /evidence="ECO:0000269|PubMed:10731720,
FT ECO:0000269|PubMed:12702581, ECO:0000269|Ref.3"
FT /id="VAR_024846"
FT VARIANT 150
FT /note="T -> A (in dbSNP:rs1003484)"
FT /evidence="ECO:0000269|PubMed:10731720,
FT ECO:0000269|PubMed:12702581, ECO:0000269|Ref.3"
FT /id="VAR_024847"
FT CONFLICT 163
FT /note="P -> T (in Ref. 1; BAA90470)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 168 AA; 18035 MW; 4641D52BCBFE64D2 CRC64;
MSKRKWRGFR GAQQERAQPP AASPQPCPAP HAGLPGGSRR RAPAPAGQQQ MRAESRSGAQ
RRRGSARRGA HREAGGCVRG RTRSSGSERS NALWQAVDAA EALALSSPLR RPWDQAQHFT
NPAPFSKGPQ SAPPSPPAGR RRRGADLALT PLAGEGHTRW RQPGRPGK
