LOCUS       NM_000294               5384 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphorylase kinase catalytic subunit gamma 2
            (PHKG2), transcript variant 1, mRNA.
ACCESSION   NM_000294
VERSION     NM_000294.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5384)
  AUTHORS   Zhu,W., Liu,D., Lu,Y., Sun,J., Zhu,J., Xing,Y., Ma,X., Wang,Y.,
            Ji,M. and Jia,Y.
  TITLE     PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori
            related gastric cancer
  JOURNAL   Arch Biochem Biophys 740, 109560 (2023)
   PUBMED   36948350
  REMARK    GeneRIF: PHKG2 regulates RSL3-induced ferroptosis in Helicobacter
            pylori related gastric cancer.
REFERENCE   2  (bases 1 to 5384)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 5384)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 5384)
  AUTHORS   Waheed,N., Saeed,A., Ijaz,S., Fayyaz,Z., Anjum,M.N., Zahoor,Y. and
            Cheema,H.A.
  TITLE     Variability of clinical and biochemical phenotype in liver
            phosphorylase kinase deficiency with variants in the phosphorylase
            kinase (PHKG2) gene
  JOURNAL   J Pediatr Endocrinol Metab 33 (9), 1117-1123 (2020)
   PUBMED   32697758
  REMARK    GeneRIF: Variability of clinical and biochemical phenotype in liver
            phosphorylase kinase deficiency with variants in the phosphorylase
            kinase (PHKG2) gene.
REFERENCE   5  (bases 1 to 5384)
  AUTHORS   Buljan,M., Ciuffa,R., van Drogen,A., Vichalkovski,A., Mehnert,M.,
            Rosenberger,G., Lee,S., Varjosalo,M., Pernas,L.E., Spegg,V.,
            Snijder,B., Aebersold,R. and Gstaiger,M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (bases 1 to 5384)
  AUTHORS   Huang,C.Y., Yuan,C.J., Livanova,N.B. and Graves,D.J.
  TITLE     Expression, purification, characterization, and deletion mutations
            of phosphorylase kinase gamma subunit: identification of an
            inhibitory domain in the gamma subunit
  JOURNAL   Mol Cell Biochem 127-128, 7-18 (1993)
   PUBMED   7935363
REFERENCE   7  (bases 1 to 5384)
  AUTHORS   Herbert,M., Goldstein,J.L., Rehder,C., Austin,S., Kishnani,P.S. and
            Bali,D.S.
  TITLE     Phosphorylase Kinase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21634085
REFERENCE   8  (bases 1 to 5384)
  AUTHORS   Hanks,S.K.
  TITLE     Messenger ribonucleic acid encoding an apparent isoform of
            phosphorylase kinase catalytic subunit is abundant in the adult
            testis
  JOURNAL   Mol Endocrinol 3 (1), 110-116 (1989)
   PUBMED   2915644
REFERENCE   9  (bases 1 to 5384)
  AUTHORS   Hanks,S.K.
  TITLE     Homology probing: identification of cDNA clones encoding members of
            the protein-serine kinase family
  JOURNAL   Proc Natl Acad Sci U S A 84 (2), 388-392 (1987)
   PUBMED   2948189
REFERENCE   10 (bases 1 to 5384)
  AUTHORS   Sovik,O., deBarsy,T. and Maehle,B.
  TITLE     Phosphorylase kinase deficiency: severe glycogen storage disease
            with evidence of autosomal recessive mode of inheritance
  JOURNAL   Eur J Pediatr 139 (3), 210 (1982)
   PUBMED   6962066
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106886.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000294.2.
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.76650.1,
                                           SRR1803615.213690.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000563588.6/ ENSP00000455607.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AC106886.3         127358-127423
            67-179              AC106886.3         127736-127848
            180-355             AC106886.3         130039-130214
            356-410             AC106886.3         130482-130536
            411-476             AC106886.3         132165-132230
            477-640             AC106886.3         132327-132490
            641-731             AC106886.3         135115-135205
            732-885             AC106886.3         135300-135453
            886-1011            AC106886.3         135523-135648
            1012-5384           AC106886.3         135737-140109
FEATURES             Location/Qualifiers
     source          1..5384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..5384
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="phosphorylase kinase catalytic subunit gamma 2"
                     /db_xref="GeneID:5261"
                     /db_xref="HGNC:HGNC:8931"
                     /db_xref="MIM:172471"
     exon            1..66
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            67..179
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1305
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /EC_number="2.7.11.19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Phosphorylase kinase, gamma 2 (testis/liver);
                     phosphorylase kinase gamma subunit 2; PSK-C3; PHK-gamma-T;
                     phosphorylase kinase, gamma 2 (testis); phosphorylase
                     kinase subunit gamma-2; serine/threonine-protein kinase
                     PHKG2; PHK-gamma-LT"
                     /codon_start=1
                     /product="phosphorylase b kinase gamma catalytic chain,
                     liver/testis isoform isoform 1"
                     /protein_id="NP_000285.1"
                     /db_xref="CCDS:CCDS10690.1"
                     /db_xref="GeneID:5261"
                     /db_xref="HGNC:HGNC:8931"
                     /db_xref="MIM:172471"
                     /translation="MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHR
                     ATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSF
                     MFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENIL
                     LDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWA
                     CGVILFTLLAGSPPFWHRRQILMLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDP
                     EARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKN
                     ALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGD
                     SAAITEDEAVLVLG"
     exon            180..355
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            356..410
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            411..476
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            477..640
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            641..731
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            732..885
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1011
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..5384
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1546..1551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="hexamer: AATAAA"
     polyA_site      1570
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="major polyA site"
     regulatory      5358..5363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="hexamer: AATAAA"
     polyA_site      5384
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
ORIGIN      
        1 gactgcaggc aaacccggcg acagcgcagc tcgcgtcgac cctggctcct ctgcctgccc
       61 cctcaggccc ccgcctcctt caggatgacg ctggacgtgg ggccggagga tgagctgccc
      121 gactgggccg ccgccaaaga gttttaccag aagtacgacc ctaaggacgt catcggcaga
      181 ggagtgagct ctgtggtccg ccgttgtgtt catcgagcta ctggccacga gtttgcggtg
      241 aagattatgg aagtgacagc tgagcggctg agtcctgagc agctggagga ggtgcgggaa
      301 gccacacggc gagagacaca catccttcgc caggtcgccg gccaccccca catcatcacc
      361 ctcatcgatt cctacgagtc ttctagcttc atgttcctgg tgtttgacct gatgcggaag
      421 ggagagctgt ttgactatct cacagagaag gtggccctct ctgaaaagga aaccaggtcc
      481 atcatgcggt ctctgctgga agcagtgagc tttctccatg ccaacaacat tgtgcatcga
      541 gatctgaagc ccgagaatat tctcctagat gacaatatgc agatccgact ttcagatttc
      601 gggttctcct gccacttgga acctggcgag aagcttcgag agttgtgtgg gaccccaggg
      661 tatctagcgc cagagatcct taaatgctcc atggatgaaa cccacccagg ctatggcaag
      721 gaggtcgacc tctgggcctg tggggtgatc ttgttcacac tcctggctgg ctcgccaccc
      781 ttctggcacc ggcggcagat cctgatgtta cgcatgatca tggagggcca gtaccagttc
      841 agttcccccg agtgggatga ccgttccagc actgtcaaag acctgatctc caggctgctg
      901 caggtggatc ctgaggcacg cctgacagct gagcaggccc tacagcaccc cttctttgag
      961 cgttgtgaag gcagccaacc ctggaacctc accccccgcc agcggttccg ggtggcagtg
     1021 tggacagtgc tggctgctgg acgagtggcc ctaagcaccc atcgtgtacg gccactgacc
     1081 aagaatgcac tgttgaggga cccttatgcg ctgcggtcag tgcggcacct catcgacaac
     1141 tgtgccttcc ggctctacgg gcactgggta aagaaagggg agcagcagaa ccgggcggct
     1201 ctctttcagc accggccccc tgggcctttt cccatcatgg gccctgaaga ggagggagac
     1261 tctgctgcta taactgagga tgaggccgtg cttgtgctgg gctaggacct caaccccagg
     1321 gattcccagg aagcagaact ctccagaaga agggttttga tcattccagc tcctctgggc
     1381 tctggcctct ggcctcaggc ccactaatga tcctgctacc ctcttgaaga ccagcccggt
     1441 acctctctcc ccactggcca ggactctgag atcagagctg gggtggaagg gagccattct
     1501 gaacgccacg cctggcccgg tcagtgctgc atgcactgca tatgaaataa aatctgctac
     1561 acgccaggga gaacaggtgt cctgtgtctg tctggcttgg gcaggaaagc ccagaaggtg
     1621 ctcagcaggg tgcagggatg gtgccattct ggcccagacc tttattgggg aaaatgttgg
     1681 gggtcacttg gtcttgctct tgcctttacc cggaggtagc tggaagggcc gctctagtgc
     1741 agtcaacttg ctgctgagcc tttcctcgct ggccttgagc cgctcctcca ccagcccctg
     1801 gagctgctcc agctctttgt tcacttgggt cttgatgtag gctcggagga cgtggatgtg
     1861 gcctgcaggg gcagggaaga aggggcaggg tgaggagaga tgctgtctgg caatgggggg
     1921 atggtcccta gttgggcaaa cagtccccaa atttcccctg gtggggatat agaggtagca
     1981 atgttgtttc cctttaggaa atgttagcaa gcccttgtgt gagaggtagt tgggtagggt
     2041 ggctatgctg gactttgcag cttcaaattc tgatccctac tcagtagctg tgtgacctta
     2101 ggcaggttat ttaacctatc tgtgcctcag tttccttgta tgaaatgtgg atagtgatac
     2161 ctagcacata ggattgaggg aggattaaat gagttaattt atgtaaaatg cttagagcag
     2221 ggcatgcact gcacacctat tgccaagtat gtgctggctg ttattgtcat tggctttctc
     2281 tttttttttt tttttttgag atggagtctt gctttatccc ccaggctgga gtgcagtggc
     2341 agcgatctca gctcactgca agctctgcct cccaggttca tgccattctc ctgcctcagc
     2401 ctcccagtag ctgggactac aggcacccgc caccacgccc ggctaacttt ttgtattttt
     2461 agtagagacg gggtttcaca gtgttagcca ggatggactc gatctcctga cctcgtgatc
     2521 cgcctgcctc agcctcccaa agtgctggga ttacagttgt gagccactgc acctggcctg
     2581 ttctttgttt ttttttaact cttaagttct gggatacgag cagaacatgc aggtttgcta
     2641 cgtaggtata catgggccat ggtggtttgc tttacccatc aacccatcat ataggtttta
     2701 agccaccgtc attggctttc taatgatcat ttctctggag ccacttcagc tgtgcttttt
     2761 gtttgtttgt ttgtttgttt tgagacagag tcttgctctg ttgcccaggc tggagtgcag
     2821 tggccagatc ttggctcact gcagtctcca cctcctgggt tcatgcagtt ctcctgcctc
     2881 agcctcctga gtagctggga ctacaagcgc gcaccaccat gcctggctat tttttgtatt
     2941 ttagtagata gggggtttca cggtgttgcc caggctggtc gcgaactcct gagctcaggc
     3001 aatccgcctg cctcagattg tgctgggatt acaggtgtga gccaccacgc ctggcctgca
     3061 gctgtgcttt tatctgtcat cttggacttc tgcataaggg atcatttaga gaaaggactc
     3121 tgactaaaaa caaaaagtct gaagtcctga tgtcatccaa acccttcatt ctacacctgc
     3181 tcagagggac agggcagcct gccctctcca gatcctcact tggctctggc tctggtgggg
     3241 ccactgtctc tagttcctct ttctgcgggg taactgcctg ctcctccatc tccttgcttt
     3301 cttctttctc tgcaaaccag aagcaggaag agactgtggc cccaggcctg gcccagccca
     3361 gccctgccct ggcactctcc cttacccgtc tcactctctg gccacagttt gggtggctgt
     3421 agccccatgt aagtcaaaga cagatccagc cgcacctggg aagcaaggca gagggaggct
     3481 gaaaggagtg cacctgtgct gaggggaggg gcggttgagg gtggctcctc atggtccacc
     3541 accccctacc tggggtgtga agacgtattt atagagcttg aagtggcgga agtaagtgtt
     3601 gaccacgtag tcttccaagg ccagcagctg ttcctctttg aagaggtcga tgctgaaagg
     3661 aggccgctgt ggtggtgact cggaattaga accctgacta ccttccggag ccctggcttt
     3721 gcctccaaaa gcccagcaac aggagcaagg agagcccact ggggtcttca caagaagata
     3781 agggtgatga atgtgagaga gactgggtga gaccttgtct ggggatgggt aaagtttcca
     3841 gaatgttcca ggggaactga ccctgactcc atggcaaaaa aggacactgg tgaagtagcg
     3901 gtagcactcc tccacgttgc ccaagggggt tgctggtagg gaaagcaaga tgcagcagtg
     3961 aggccctctc tggtatccat tcattcactt cactcaacag ctgtttatga ccatgagctt
     4021 cagaagcaga cagatctggg tttcagcact ggcttgtttc cttaactcat gtaacaaata
     4081 ctgaataccc actatatgcc cactgtatgg ttttcggcac tgaacaagac agacaaggtc
     4141 ctgcccttac gaagcttata ttctagggga ataaaccaag aaatagatca tttcagctat
     4201 taaacattct gaagcaagag ctattaaaca ttctaaagca ggtgttattg tgcactatgc
     4261 atatatttgc atatattatt tctcagaaca gtcctgtaaa atgtgtgctg tatccttaat
     4321 ttctagataa ggaagcagtg gattggaaag ctgatggctt gtgtatgatg atgctactaa
     4381 taatgacata ttccaggcag aaatcccctg cttctgcttc ccatggtcac ttgtgccagg
     4441 cccggttcct cttctccctg gggctcaaac ctggtagctg ccccctctca ccaatacaag
     4501 ccttgtgaag atcctggagc agggcacaag ccgctgacgt ctgctccagt gagaagccct
     4561 gctggcggca gaaaatgagc gcgtggcaga agaggtccag ggtgatggcg tccctcaggc
     4621 tctgctcagg acaccctagc tccagcagct cagccagcac ccttgggagg gagagaggag
     4681 tgagtgacaa ctgggcctcc tttcatcacc ctacacccac cacatgcttt ggagtcagcc
     4741 attcctcatg ttttcccaac ctgacccctc agcctttgcc aagagctctt cccacgcccc
     4801 cctcagtccc tactccctca tctcagcatt ggtggtcttc tccagctggt gcatggaatg
     4861 gacgtccagg tacttcctgt tatagtaaaa gaaaaagagt attggtggcc gttacctatc
     4921 atgacaaggc tgtgacagct agtgcgtgag actgggagtt ggccaccggc gtgaagctgg
     4981 gctcttttgc cagcttgctg tgtgactatg caaatcgtta actctctggg cctaaatgaa
     5041 ctcttatgag cctctccatt tctaaagcct agggttagga atcttgaatt cttttttctg
     5101 ctctgccact accttgtatg accttggtca agtactccct gtggccctca gtgtccccct
     5161 ctgtacaata ctccttagcg gccatgagac tccatttaca ttctgtcttt ggctcttttt
     5221 ttctcacact gcctcctctt tggactggag aggctggaaa gccaacttcc agtcacctgg
     5281 agtaattgca tctccaggcc tcagtctcat ctgtaaaatg gggatgccct ggccacagac
     5341 aggactgttg gggagacaat aaagaacgca aatattcagt gtaa
//
