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


RefSeq Accession Definition Sequence Price Select
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. Full Lenth $2476.35
ORF Sequence $354.09


RefSeq Version NM_000294.2, 289063420
Length 5503 bp
Structure linear
Update Date 12-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.
Product phosphorylase b kinase gamma catalytic chain, testis/liver 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.


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
Exon (1)1..192
Exon (2)1..192
Exon (3)193..305
Exon (4)306..481
Exon (5)482..536
Exon (6)537..602
Exon (7)603..766
Exon (8)767..857
Exon (9)858..1011
Exon (10)1012..1137
Exon (11)1138..5503
Translation MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAE RLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLT EKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEP GEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPW NLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGH WVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG
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Position Chain Variation Link
340+c, tdbSNP:137853590
527+a, tdbSNP:137853589
643+c, tdbSNP:137853591
776+a, gdbSNP:137853588
887+g, tdbSNP:137853592
Gene SymbolPHKG2
Gene SynonymGSD9C
Chromosome16
Locus Map16p11.2
All Transcripts NM_000294 , NM_001172432
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 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 The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition .
Author Lowe,E.D., Noble,M.E., Skamnaki,V.T., Oikonomakos,N.G., Owen,D.J. and Johnson,L.N.
Journal EMBO J. 16 (22), 6646-6658 (1997)
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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