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Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_021957 Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_021957.3, 119372285
Length 3132 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.
Product glycogen [starch] synthase, liver
Comment

Summary: The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009].

RefSeq NP_068776.2
CDS 256..2367
Misc Feature(1)214..216
Misc Feature(2)355..2163
Misc Feature(3)355..2163
Misc Feature(4)355..2100
Exon (1)1..376
Gene:GYS2
Gene Synonym:GYS2
Exon (2)377..558
Gene:GYS2
Gene Synonym:GYS2
Exon (3)559..750
Gene:GYS2
Gene Synonym:GYS2
Exon (4)751..933
Gene:GYS2
Gene Synonym:GYS2
Exon (5)934..1078
Gene:GYS2
Gene Synonym:GYS2
Exon (6)1079..1196
Gene:GYS2
Gene Synonym:GYS2
Exon (7)1197..1317
Gene:GYS2
Gene Synonym:GYS2
Exon (8)1318..1424
Gene:GYS2
Gene Synonym:GYS2
Exon (9)1425..1484
Gene:GYS2
Gene Synonym:GYS2
Exon (10)1485..1563
Gene:GYS2
Gene Synonym:GYS2
Exon (11)1564..1677
Gene:GYS2
Gene Synonym:GYS2
Exon (12)1678..1804
Gene:GYS2
Gene Synonym:GYS2
Exon (13)1805..1900
Gene:GYS2
Gene Synonym:GYS2
Exon (14)1901..2064
Gene:GYS2
Gene Synonym:GYS2
Exon (15)2065..2145
Gene:GYS2
Gene Synonym:GYS2
Exon (16)2146..3132
Gene:GYS2
Gene Synonym:GYS2
Translation MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGIYTVIQTKAKTTADEWG ENYFLIGPYFEHNMKTQVEQCEPVNDAVRRAVDAMNKHGCQVHFGRWLIEGSPYVVLFDI GYSAWNLDRWKGDLWEACSVGIPYHDREANDMLIFGSLTAWFLKEVTDHADGKYVVAQFH EWQAGIGLILSRARKLPIATIFTTHATLLGRYLCAANIDFYNHLDKFNIDKEAGERQIYH RYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDVVTPNGLNVKKFSAVHEFQNLHAMY KARIQDFVRGHFYGHLDFDLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSDI TVMVFFIMPAKTNNFNVETLKGQAVRKQLWDVAHSVKEKFGKKLYDALLRGEIPDLNDIL DRDDLTIMKRAIFSTQRQSLPPVTTHNMIDDSTDPILSTIRRIGLFNNRTDRVKVILHPE FLSSTSPLLPMDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSVTTNLSGFGCFMQE HVADPTAYGIYIVDRRFRSPDDSCNQLTKFLYGFCKQSRRQRIIQRNRTERLSDLLDWRY LGRYYQHARHLTLSRAFPDKFHVELTSPPTTEGFKYPRPSSVPPSPSGSQASSPQSSDVE DEVEDERYDEEEEAERDRLNIKSPFSLSHVPHGKKKLHGEYKN
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Position Chain Variation Link
complement(37)-dbSNP:
complement(37)-c, adbSNP:184607089
complement(126)-g, adbSNP:145691307
complement(157)-g, adbSNP:149962927
complement(166)-g, adbSNP:139793446
complement(239)-t, cdbSNP:181144954
complement(249)-t, cdbSNP:188755678
complement(272)-g, cdbSNP:141614479
complement(298)-g, adbSNP:200917760
complement(371)-g, adbSNP:121918423
complement(397)-dbSNP:
complement(397)-t, cdbSNP:199980772
complement(405)-t, cdbSNP:139109200
complement(431)-g, cdbSNP:201868350
complement(496)-t, c, adbSNP:146200724
complement(504)-g, adbSNP:141639243
complement(535)-t, cdbSNP:34225615
complement(549)-g, adbSNP:200876060
complement(554)-c, adbSNP:144077289
complement(676)-dbSNP:
complement(676)-t, cdbSNP:149533049
complement(691)-c, adbSNP:187237403
complement(717)-t, cdbSNP:200401082
complement(726)-g, adbSNP:146811659
complement(780)-dbSNP:
complement(780)-g, adbSNP:77486019
complement(793)-g, adbSNP:139544285
complement(798)-t, cdbSNP:138104080
complement(802)-g, adbSNP:201157731
complement(815..816)-, cdbSNP:35585202
complement(829)-t, g, adbSNP:150382575
complement(832)-t, cdbSNP:16924038
complement(885)-t, cdbSNP:201503558
complement(890)-t, cdbSNP:139047283
complement(906..907)-, tdbSNP:35788164
complement(949)-dbSNP:
complement(949)-g, cdbSNP:146467702
complement(953)-g, adbSNP:142484821
complement(977)-t, cdbSNP:151087668
complement(982)-g, adbSNP:142937277
complement(991)-t, cdbSNP:121918419
complement(1005)-g, adbSNP:200713752
complement(1077)-c, adbSNP:112911729
complement(1095)-dbSNP:
complement(1095)-g, adbSNP:148986381
complement(1139)-t, cdbSNP:145848121
complement(1141)-g, adbSNP:201431712
complement(1248)-dbSNP:
complement(1248)-c, adbSNP:201958662
complement(1270)-g, cdbSNP:121918421
complement(1342)-dbSNP:
complement(1342)-t, cdbSNP:2306180
complement(1383)-g, adbSNP:139043251
complement(1384)-t, cdbSNP:199855783
complement(1411)-g, adbSNP:146195866
complement(1500)-dbSNP:
complement(1500)-g, cdbSNP:16924002
complement(1506)-g, adbSNP:139882761
complement(1526)-t, adbSNP:200907849
complement(1532)-g, adbSNP:150557084
complement(1534)-t, gdbSNP:201855039
complement(1551)-t, gdbSNP:141721723
complement(1586)-dbSNP:
complement(1586)-t, gdbSNP:148039067
complement(1591)-g, cdbSNP:121918425
complement(1617)-g, adbSNP:144580757
complement(1644)-g, adbSNP:146434233
complement(1661)-t, cdbSNP:139031614
complement(1691)-dbSNP:
complement(1691)-c, adbSNP:121918420
complement(1702)-t, cdbSNP:121918424
complement(1707)-g, adbSNP:142418217
complement(1719)-t, cdbSNP:35403985
complement(1727)-t, gdbSNP:121918422
complement(1804)-g, cdbSNP:199936257
complement(1808)-dbSNP:
complement(1808)-t, gdbSNP:150433001
complement(1815)-g, adbSNP:140529413
complement(1846)-t, gdbSNP:151300918
complement(1852)-t, cdbSNP:201650590
complement(1873)-t, cdbSNP:143894309
complement(1891)-t, cdbSNP:61733199
complement(1899)-g, adbSNP:146660038
complement(1900)-t, cdbSNP:143199072
complement(1912)-dbSNP:
complement(1912)-t, cdbSNP:186184722
complement(1927)-g, adbSNP:148617918
complement(1956)-t, cdbSNP:78337075
complement(1965)-g, adbSNP:149907949
complement(1968)-g, adbSNP:139122418
complement(1990)-g, adbSNP:138595701
complement(2022)-g, adbSNP:147417298
complement(2029)-g, cdbSNP:202136674
complement(2127)-dbSNP:
complement(2127)-t, cdbSNP:142883971
complement(2135)-g, adbSNP:182582633
complement(2144)-g, adbSNP:140646346
complement(2147)-dbSNP:
complement(2147)-g, cdbSNP:147224434
complement(2161)-g, adbSNP:143798221
complement(2196)-t, cdbSNP:199501555
complement(2220)-g, cdbSNP:117639846
complement(2260)-t, cdbSNP:142656537
complement(2288)-t, cdbSNP:114025396
complement(2289)-t, cdbSNP:115682999
complement(2309)-g, adbSNP:117474773
complement(2310)-c, adbSNP:201063818
complement(2322)-g, adbSNP:7954038
complement(2323)-c, adbSNP:148461282
complement(2327)-g, adbSNP:144564037
complement(2352)-g, adbSNP:146628312
complement(2364)-g, adbSNP:34099383
complement(2373)-t, adbSNP:10431213
complement(2376)-g, adbSNP:201090154
complement(2416)-g, adbSNP:113707924
complement(2448)-t, gdbSNP:142797571
complement(2506)-t, c, adbSNP:984
complement(2519)-t, cdbSNP:936
complement(2618)-g, adbSNP:189034646
complement(2626)-t, adbSNP:140445396
complement(2657)-t, gdbSNP:17849015
complement(2721)-t, gdbSNP:184562302
complement(2754)-g, adbSNP:193206230
complement(2759..2760)-, gdbSNP:199969786
complement(2759)-g, adbSNP:116576673
complement(2799)-t, cdbSNP:17849016
complement(2803..2804)-, adbSNP:60154469
complement(2804..2805)-, adbSNP:143037708
complement(2825)-t, adbSNP:76993768
complement(2878)-t, cdbSNP:137866749
Gene SymbolGYS2
Gene SynonymGYS2
Chromosome12
Locus Map12p12.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_021957 Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. On-demand $849.00 20
Title Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition .
Author Hwang,J.Y., Lee,E.J., Jin Go,M., Sung,Y.A., Lee,H.J., Heon Kwak,S., Jang,H.C., Soo Park,K., Lee,H.J., Byul Jang,H., Song,J., Park,K.H., Kim,H.L., Cho,M.C. and Lee,J.Y.
Journal J. Hum. Genet. 57 (10), 660-664 (2012)
Title Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia .
Author Nessa,A., Kumaran,A., Kirk,R., Dalton,A., Ismail,D. and Hussain,K.
Journal J. Pediatr. Endocrinol. Metab. 25 (9-10), 963-967 (2012)
Title Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study .
Author Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A.
Journal Mutat. Res. 694 (1-2), 13-19 (2010)
Title Genetic associations of brain structural networks in schizophrenia: a preliminary study .
Author Jagannathan,K., Calhoun,V.D., Gelernter,J., Stevens,M.C., Liu,J., Bolognani,F., Windemuth,A., Ruano,G., Assaf,M. and Pearlson,G.D.
Journal Biol. Psychiatry 68 (7), 657-666 (2010)
Title Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? .
Author Ruano,G., Thompson,P.D., Kane,J.P., Pullinger,C.R., Windemuth,A., Seip,R.L., Kocherla,M., Holford,T.R. and Wu,A.H.
Journal Pharmacogenomics 11 (7), 959-971 (2010)
Title Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0 .
Author Orho,M., Bosshard,N.U., Buist,N.R., Gitzelmann,R., Aynsley-Green,A., Blumel,P., Gannon,M.C., Nuttall,F.Q. and Groop,L.C.
Journal J. Clin. Invest. 102 (3), 507-515 (1998)
Title Primary structure of human liver glycogen synthase deduced by cDNA cloning .
Author Nuttall,F.Q., Gannon,M.C., Bai,G. and Lee,E.Y.
Journal Arch. Biochem. Biophys. 311 (2), 443-449 (1994)
Title The human liver Glycogen synthase isozyme gene is located on the short arm of chromosome 12 .
Author Nuttall,F.Q., Gannon,M.C., Kubic,V.L. and Hoyt,K.J.
Journal Genomics 19 (2), 404-405 (1994)
Title Comparative characterization of human and rat liver glycogen synthase .
Author Westphal,S.A. and Nuttall,F.Q.
Journal Arch. Biochem. Biophys. 292 (2), 479-486 (1992)
Title Short-term hormonal control of protein phosphatases involved in hepatic glycogen metabolism .
Author Stalmans,W., Bollen,M., Toth,B. and Gergely,P.
Journal Adv. Enzyme Regul. 30, 305-327 (1990)


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