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Database:

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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 14-MAY-2014
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)352..2229
Misc Feature(3)352..2229
Misc Feature(4)352..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(23)-dbSNP:
complement(23)-t, cdbSNP:369197384
complement(37)-c, adbSNP:184607089
complement(103)-c, adbSNP:374862200
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(289)-g, adbSNP:371246172
complement(298)-g, adbSNP:200917760
complement(305)-t, cdbSNP:376935348
371+a, gdbSNP:121918423
complement(397)-dbSNP:
complement(397)-t, cdbSNP:199980772
complement(405)-t, cdbSNP:139109200
complement(431)-g, cdbSNP:201868350
complement(496)-t, adbSNP:146200724
complement(504)-g, adbSNP:141639243
complement(535)-t, cdbSNP:34225615
complement(549)-g, adbSNP:200876060
complement(554)-c, adbSNP:144077289
complement(563)-dbSNP:
complement(563)-t, cdbSNP:376308462
complement(615)-t, adbSNP:371292004
complement(648)-c, adbSNP:373285780
complement(651)-g, adbSNP:368873811
complement(676)-t, cdbSNP:149533049
complement(682)-g, adbSNP:376712209
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(794)-t, cdbSNP:373237271
complement(798)-t, cdbSNP:138104080
complement(802)-g, adbSNP:201157731
complement(811)-t, adbSNP:376889935
complement(815..816)-, cdbSNP:35585202
complement(829)-t, g, adbSNP:150382575
complement(832)-t, cdbSNP:16924038
complement(866)-g, adbSNP:373914217
complement(885)-t, cdbSNP:201503558
complement(890)-t, cdbSNP:139047283
complement(905..906)-, 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
991+c, tdbSNP:121918419
complement(1005)-g, adbSNP:200713752
complement(1064)-g, adbSNP:375739160
complement(1077)-c, adbSNP:112911729
complement(1095)-dbSNP:
complement(1095)-g, adbSNP:148986381
complement(1139)-t, cdbSNP:145848121
complement(1141)-g, adbSNP:201431712
complement(1162)-t, cdbSNP:373811432
complement(1180)-g, adbSNP:267603422
complement(1203)-dbSNP:
complement(1203)-g, adbSNP:374841625
complement(1248)-c, adbSNP:201958662
complement(1267)-t, cdbSNP:370654455
1270+c, gdbSNP:121918421
complement(1342)-dbSNP:
complement(1342)-t, cdbSNP:2306180
complement(1383)-g, adbSNP:139043251
complement(1384)-t, cdbSNP:199855783
complement(1385)-g, adbSNP:377377357
complement(1411)-g, adbSNP:146195866
complement(1441)-dbSNP:
complement(1441)-t, cdbSNP:372161233
complement(1446)-t, cdbSNP:368757293
complement(1457)-c, adbSNP:375464696
complement(1500)-dbSNP:
complement(1500)-g, cdbSNP:16924002
complement(1506)-g, adbSNP:139882761
complement(1507)-t, cdbSNP:370887018
complement(1526)-t, adbSNP:200907849
complement(1532)-g, adbSNP:150557084
complement(1534)-t, gdbSNP:201855039
complement(1551)-t, gdbSNP:141721723
complement(1573)-dbSNP:
complement(1573)-g, adbSNP:371025503
1591+c, gdbSNP:121918425
complement(1600)-t, cdbSNP:377706682
complement(1617)-g, adbSNP:144580757
complement(1643)-g, adbSNP:374490374
complement(1644)-g, adbSNP:146434233
complement(1651)-g, adbSNP:370152970
complement(1656)-t, gdbSNP:377081650
complement(1659)-g, adbSNP:372862031
complement(1661)-t, cdbSNP:139031614
1691+dbSNP:
1691+a, cdbSNP:121918420
1702+c, tdbSNP:121918424
complement(1707)-g, adbSNP:142418217
complement(1719)-t, cdbSNP:35403985
complement(1723)-g, adbSNP:374053036
complement(1725)-g, adbSNP:373027409
1727+g, tdbSNP:121918422
complement(1738)-g, cdbSNP:369595121
complement(1771)-g, adbSNP:267603421
complement(1804)-g, cdbSNP:199936257
complement(1808)-dbSNP:
complement(1808)-t, gdbSNP:150433001
complement(1815)-g, adbSNP:140529413
complement(1846)-t, gdbSNP:151300918
complement(1851)-g, adbSNP:368306247
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(1922)-t, cdbSNP:376869969
complement(1927)-g, adbSNP:148617918
complement(1928)-t, cdbSNP:373682083
complement(1956)-t, cdbSNP:78337075
complement(1962)-t, cdbSNP:376507992
complement(1965)-g, adbSNP:149907949
complement(1968)-g, adbSNP:139122418
complement(1990)-g, adbSNP:138595701
complement(2000)-t, cdbSNP:369069984
complement(2005)-t, cdbSNP:376892583
complement(2022)-g, adbSNP:147417298
complement(2029)-g, cdbSNP:202136674
complement(2120)-dbSNP:
complement(2120)-t, cdbSNP:372925801
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(2172)-c, adbSNP:370217725
complement(2179)-t, cdbSNP:367881123
complement(2196)-t, cdbSNP:199501555
complement(2220)-g, cdbSNP:117639846
complement(2260)-t, cdbSNP:142656537
complement(2264)-t, cdbSNP:374040928
complement(2288)-t, cdbSNP:114025396
complement(2289)-t, cdbSNP:115682999
complement(2307)-t, cdbSNP:370719571
complement(2309)-g, adbSNP:117474773
complement(2310)-c, adbSNP:201063818
complement(2315)-t, adbSNP:377417090
complement(2322)-g, adbSNP:7954038
complement(2323)-c, adbSNP:148461282
complement(2327)-g, adbSNP:144564037
complement(2328)-g, adbSNP:376999864
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
2506+a, c, tdbSNP:984
complement(2519)-t, cdbSNP:386622091
2519+c, tdbSNP:936
complement(2582)-g, adbSNP:371093819
complement(2618)-g, adbSNP:189034646
2626+a, tdbSNP:140445396
2657+g, tdbSNP:17849015
complement(2721)-t, gdbSNP:184562302
complement(2754)-g, adbSNP:193206230
complement(2759..2760)-, gdbSNP:199969786
complement(2759)-g, adbSNP:116576673
complement(2798..2799)-, adbSNP:397968947
2799+c, tdbSNP:17849016
complement(2804..2805)-, adbSNP:60154469
complement(2825)-t, adbSNP:76993768
complement(2836)-c, adbSNP:372475444
complement(2878)-t, cdbSNP:137866749
complement(2905)-t, cdbSNP:367936743
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
XM_005253352 PREDICTED: Homo sapiens glycogen synthase 2 (liver) (GYS2), transcript variant X1, mRNA. On-demand $849.00 20
XM_006719062 PREDICTED: Homo sapiens glycogen synthase 2 (liver) (GYS2), transcript variant X4, mRNA. On-demand $849.00 20
XM_005253353 PREDICTED: Homo sapiens glycogen synthase 2 (liver) (GYS2), transcript variant X2, mRNA. On-demand $849.00 20
XM_005253354 PREDICTED: Homo sapiens glycogen synthase 2 (liver) (GYS2), transcript variant X3, mRNA. On-demand $849.00 20
XM_006719063 PREDICTED: Homo sapiens glycogen synthase 2 (liver) (GYS2), transcript variant X5, 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 JY, Lee EJ, Jin Go M, Sung YA, Lee HJ, Heon Kwak S, Jang HC, Soo Park K, Lee HJ, Byul Jang H, Song J, Park KH, Kim HL, Cho MC and Lee JY.
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 VD, Gelernter J, Stevens MC, Liu J, Bolognani F, Windemuth A, Ruano G, Assaf M and Pearlson GD.
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 PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR and Wu AH.
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 NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ and Groop LC.
Journal J. Clin. Invest. 102 (3), 507-515 (1998)
Title Primary structure of human liver glycogen synthase deduced by cDNA cloning .
Author Nuttall FQ, Gannon MC, Bai G and Lee EY.
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 FQ, Gannon MC, Kubic VL and Hoyt KJ.
Journal Genomics 19 (2), 404-405 (1994)
Title Comparative characterization of human and rat liver glycogen synthase .
Author Westphal SA and Nuttall FQ.
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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