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Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

*Business Day

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RefSeq Version NM_000294.2, 289063420
Length 5503 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.
Product phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1
Comment

Summary: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].


Transcript Variant: This variant (1) encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000285.1
CDS 211..1431
Misc Feature(1)280..1083
Misc Feature(2)280..1083
Misc Feature(3)331..1083
Misc Feature(4)order(361..363,367..369,481..483,529..534,538..540,
Misc Feature(5)order(361..363,367..369,481..483,532..540,550..552,
Misc Feature(6)order(550..552,556..558,667..669,673..675,679..681,
Misc Feature(7)order(718..741,766..786)
Misc Feature(8)1126..1200
Misc Feature(9)1246..1320
Exon (1)1..192
Gene:PHKG2
Gene Synonym:GSD9C
Exon (2)193..305
Gene:PHKG2
Gene Synonym:GSD9C
Exon (3)306..481
Gene:PHKG2
Gene Synonym:GSD9C
Exon (4)482..536
Gene:PHKG2
Gene Synonym:GSD9C
Exon (5)537..602
Gene:PHKG2
Gene Synonym:GSD9C
Exon (6)603..766
Gene:PHKG2
Gene Synonym:GSD9C
Exon (7)767..857
Gene:PHKG2
Gene Synonym:GSD9C
Exon (8)858..1011
Gene:PHKG2
Gene Synonym:GSD9C
Exon (9)1012..1137
Gene:PHKG2
Gene Synonym:GSD9C
Exon (10)1138..5503
Gene:PHKG2
Gene Synonym:GSD9C
Translation MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAE RLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLT EKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEP GEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPW NLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGH WVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG
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Position Chain Variation Link
97+dbSNP:
97+c, tdbSNP:11863277
160+c, gdbSNP:112201430
188+c, tdbSNP:11547255
197+dbSNP:
197+c, gdbSNP:11547256
231+a, gdbSNP:200427925
337+dbSNP:
337+c, tdbSNP:202177461
340+c, tdbSNP:137853590
352+c, tdbSNP:202145162
354+c, tdbSNP:141595425
372+g, tdbSNP:199854449
384+a, tdbSNP:56207641
385+a, gdbSNP:144930894
391+c, tdbSNP:201199884
392+a, gdbSNP:147950160
437+a, gdbSNP:138299462
466+a, gdbSNP:143983247
498+dbSNP:
498+c, tdbSNP:56029513
527+a, tdbSNP:137853589
528+g, tdbSNP:199743139
534+c, tdbSNP:138416154
570+dbSNP:
570+a, gdbSNP:149163610
594+c, gdbSNP:201659307
603+dbSNP:
603+a, gdbSNP:55751949
613+c, tdbSNP:148036324
635+g, tdbSNP:141710432
643+c, tdbSNP:137853591
668+a, tdbSNP:146036666
699+c, tdbSNP:138740083
702+c, tdbSNP:141560995
705+g, tdbSNP:146181866
739+c, gdbSNP:45612445
740+a, tdbSNP:139116127
764+a, g, tdbSNP:61733974
776+dbSNP:
776+a, gdbSNP:137853588
795+a, gdbSNP:187710792
818+c, tdbSNP:192866993
866+dbSNP:
866+c, gdbSNP:189032780
887+g, tdbSNP:137853592
917+a, gdbSNP:143915773
950+c, tdbSNP:34006569
988+c, tdbSNP:148776797
992+c, gdbSNP:144792786
1001+c, tdbSNP:111883335
1017+dbSNP:
1017+a, cdbSNP:147966774
1047+a, cdbSNP:141832212
1088+a, gdbSNP:200348735
1123+c, tdbSNP:200288919
1130+a, gdbSNP:145390070
1131+g, tdbSNP:201113602
1196+dbSNP:
1196+a, gdbSNP:200724536
1236+a, gdbSNP:200852313
1254+c, tdbSNP:201829095
1261+a, gdbSNP:151033581
1276+c, tdbSNP:140913831
1281+c, gdbSNP:200630126
1318+c, tdbSNP:201376250
1347+c, tdbSNP:61731628
1350+c, gdbSNP:202215781
1391+c, gdbSNP:145746592
1394+c, tdbSNP:141025408
1446+a, gdbSNP:1804159
1504+g, tdbSNP:139507813
1505+c, gdbSNP:147632793
1506..1512+, ctctggcdbSNP:71820772
1507..1513+, tctggccdbSNP:71900059
1508..1514+, ctggcctdbSNP:71789523
1509..1515+, tggcctcdbSNP:56107910
1512+c, gdbSNP:77175815
1618+c, tdbSNP:1061190
1678+a, gdbSNP:191968602
1679+c, tdbSNP:150529725
1730+c, tdbSNP:184619676
1751+a, gdbSNP:189336168
1889+c, tdbSNP:200334105
1900+c, tdbSNP:138413324
1901+a, gdbSNP:182267845
1911+a, gdbSNP:1048703
1963+c, tdbSNP:201418865
1971+a, gdbSNP:186003632
1986+a, gdbSNP:199800099
2007+a, gdbSNP:57192967
2018+g, tdbSNP:189371716
2024+a, gdbSNP:149242536
2100+a, gdbSNP:111252867
2138+a, gdbSNP:144420827
2220+a, gdbSNP:139412754
2234+c, tdbSNP:181307107
2257+c, gdbSNP:144133909
2265+c, tdbSNP:186181298
2349+c, tdbSNP:190107307
2352+a, gdbSNP:182778444
2397+c, tdbSNP:201737213
2434+a, tdbSNP:185919468
2620+g, tdbSNP:190827459
2621+a, tdbSNP:184000563
2736+c, tdbSNP:187853639
2762+c, tdbSNP:192483412
2767+a, gdbSNP:112113047
2816+c, tdbSNP:182864479
3080+c, tdbSNP:11645367
3155+g, tdbSNP:7193412
3273+c, gdbSNP:7188077
3334+c, tdbSNP:187063168
3373+g, tdbSNP:144755146
3378+c, gdbSNP:61746942
3408+a, tdbSNP:141842194
3535+a, gdbSNP:145518957
3542+c, tdbSNP:147982789
3547+c, tdbSNP:141615439
3608+c, tdbSNP:191838893
3661..3662+, gdbSNP:35293079
3667+a, cdbSNP:150540962
3696+c, tdbSNP:200532920
3716+c, tdbSNP:139508776
3725+c, tdbSNP:143239070
3743+a, gdbSNP:147508732
3747+c, gdbSNP:140233714
3768+a, gdbSNP:117306997
3776+a, cdbSNP:139907701
3781+a, gdbSNP:148722707
3842+c, tdbSNP:189191189
3956+a, gdbSNP:62622830
3957+c, tdbSNP:201836721
4002+a, gdbSNP:142254614
4027+c, tdbSNP:151283168
4269+c, tdbSNP:142375933
4311+g, tdbSNP:193252316
4435+g, tdbSNP:185728673
4636+a, gdbSNP:140609394
4651+c, tdbSNP:144822491
4657+c, tdbSNP:151271860
4728+c, tdbSNP:146729147
4763+a, gdbSNP:140316897
4887+c, tdbSNP:140478640
4934+c, gdbSNP:200933996
4982+c, tdbSNP:150382749
5010+a, gdbSNP:201327122
5011..5012+, ttdbSNP:35446957
5011+, aadbSNP:72455244
5015..5016+, agdbSNP:201882666
5046+a, gdbSNP:4889505
5128+c, tdbSNP:149984900
5135+a, cdbSNP:190683100
5296+a, gdbSNP:147660704
Gene SymbolPHKG2
Gene SynonymGSD9C
Chromosome16
Locus Map16p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. In-stock $418.00 $369.00 10
NM_001172432 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 2, mRNA. On-demand $549.00 14
Title Glycogen storage disease type IX: High variability in clinical phenotype .
Author Beauchamp,N.J., Dalton,A., Ramaswami,U., Niinikoski,H., Mention,K., Kenny,P., Kolho,K.L., Raiman,J., Walter,J., Treacy,E., Tanner,S. and Sharrard,M.
Journal Mol. Genet. Metab. 92 (1-2), 88-99 (2007)
Title Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene .
Author Burwinkel,B., Rootwelt,T., Kvittingen,E.A., Chakraborty,P.K. and Kilimann,M.W.
Journal Pediatr. Res. 54 (6), 834-839 (2003)
Title Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) .
Author Burwinkel,B., Tanner,M.S. and Kilimann,M.W.
Journal J. Med. Genet. 37 (5), 376-377 (2000)
Title Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure .
Author Brushia,R.J. and Walsh,D.A.
Journal Front. Biosci. 4, D618-D641 (1999)
Title Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis .
Author Burwinkel,B., Shiomi,S., Al Zaben,A. and Kilimann,M.W.
Journal Hum. Mol. Genet. 7 (1), 149-154 (1998)
Title Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16 .
Author Whitmore,S.A., Apostolou,S., Lane,S., Nancarrow,J.K., Phillips,H.A., Richards,R.I., Sutherland,G.R. and Callen,D.F.
Journal Genomics 20 (2), 169-175 (1994)
Title Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit .
Author Huang,C.Y., Yuan,C.J., Livanova,N.B. and Graves,D.J.
Journal Mol. Cell. Biochem. 127-128, 7-18 (1993)
Title Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis .
Author Hanks,S.K.
Journal Mol. Endocrinol. 3 (1), 110-116 (1989)
Title Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family .
Author Hanks,S.K.
Journal Proc. Natl. Acad. Sci. U.S.A. 84 (2), 388-392 (1987)
Title Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance .
Author Sovik,O., deBarsy,T. and Maehle,B.
Journal Eur. J. Pediatr. 139 (3), 210 (1982)


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