LOCUS       NM_016203               3279 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens protein kinase AMP-activated non-catalytic subunit
            gamma 2 (PRKAG2), transcript variant 1, mRNA.
ACCESSION   NM_016203
VERSION     NM_016203.4
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 3279)
  AUTHORS   van der Steld,L.P., Rocha,M.S., Ladeia,A.M.T., Livramento,H.L.,
            Campos,G.B., Darrieux,F.C.D.C., Campuzano,O. and Brugada,R.
  TITLE     PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian
            long-term follow-up with extracardiac disorders
  JOURNAL   Einstein (Sao Paulo) 22, eAO0549 (2024)
   PUBMED   39082507
  REMARK    GeneRIF: PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a
            Brazilian long-term follow-up with extracardiac disorders.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3279)
  AUTHORS   Braverman,E.L., McQuaid,M.A., Schuler,H., Qin,M., Hani,S.,
            Hippen,K., Monlish,D.A., Dobbs,A.K., Ramsey,M.J., Kemp,F.,
            Wittmann,C., Ramgopal,A., Brown,H., Blazar,B. and Byersdorfer,C.A.
  TITLE     Overexpression of AMPKgamma2 increases AMPK signaling to augment
            human T cell metabolism and function
  JOURNAL   J Biol Chem 300 (1), 105488 (2024)
   PUBMED   38000657
  REMARK    GeneRIF: Overexpression of AMPKgamma2 increases AMPK signaling to
            augment human T cell metabolism and function.
REFERENCE   3  (bases 1 to 3279)
  AUTHORS   Song,X.W., Su,T., Li,B., Huang,Y.J., He,W.X., Jiang,L.L., Li,C.J.,
            Huang,S.Q., Li,S.H., Guo,Z.F., Wu,H. and Zhang,B.L.
  TITLE     Abnormal expression of PRKAG2-AS results in dysfunction of
            cardiomyocytes through regulating PRKAG2 transcription by
            interacting with PPARG
  JOURNAL   Clin Epigenetics 15 (1), 178 (2023)
   PUBMED   37932845
  REMARK    GeneRIF: Abnormal expression of PRKAG2-AS results in dysfunction of
            cardiomyocytes through regulating PRKAG2 transcription by
            interacting with PPARG.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3279)
  AUTHORS   Janin,A., Gouy,E., Putoux,A., Perouse-de-Monclos,T., Chevalier,P.,
            Faucherre,A., Mancilla Abaroa,J., Jopling,C., Collardeau
            Frachon,S., Radojevic,J., El Chehadeh,S. and Millat,G.
  TITLE     Biallelic PRKAG2 Truncating Variants Are Associated with Severe
            Neonatal Cardiomyopathies
  JOURNAL   Circ Genom Precis Med 16 (3), 277-279 (2023)
   PUBMED   37013823
  REMARK    GeneRIF: Biallelic PRKAG2 Truncating Variants Are Associated with
            Severe Neonatal Cardiomyopathies.
REFERENCE   5  (bases 1 to 3279)
  AUTHORS   Maron,B.J. and Maron,M.S.
  TITLE     PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness
            and Into the Light
  JOURNAL   J Am Coll Cardiol 76 (2), 198-200 (2020)
   PUBMED   32646570
REFERENCE   6  (bases 1 to 3279)
  AUTHORS   Gollob,M.H., Green,M.S., Tang,A.S., Gollob,T., Karibe,A., Ali
            Hassan,A.S., Ahmad,F., Lozado,R., Shah,G., Fananapazir,L.,
            Bachinski,L.L. and Roberts,R.
  TITLE     Identification of a gene responsible for familial
            Wolff-Parkinson-White syndrome
  JOURNAL   N Engl J Med 344 (24), 1823-1831 (2001)
   PUBMED   11407343
  REMARK    Erratum:[N Engl J Med 2001 Aug 16;345(7):552. Hassan AS [corrected
            to Ali Hassan AS]]
REFERENCE   7  (bases 1 to 3279)
  AUTHORS   Blair,E., Redwood,C., Ashrafian,H., Oliveira,M., Broxholme,J.,
            Kerr,B., Salmon,A., Ostman-Smith,I. and Watkins,H.
  TITLE     Mutations in the gamma(2) subunit of AMP-activated protein kinase
            cause familial hypertrophic cardiomyopathy: evidence for the
            central role of energy compromise in disease pathogenesis
  JOURNAL   Hum Mol Genet 10 (11), 1215-1220 (2001)
   PUBMED   11371514
REFERENCE   8  (bases 1 to 3279)
  AUTHORS   MacRae,C.A., Ghaisas,N., Kass,S., Donnelly,S., Basson,C.T.,
            Watkins,H.C., Anan,R., Thierfelder,L.H., McGarry,K., Rowland,E. et
            al.
  TITLE     Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White
            syndrome maps to a locus on chromosome 7q3
  JOURNAL   J Clin Invest 96 (3), 1216-1220 (1995)
   PUBMED   7657794
REFERENCE   9  (bases 1 to 3279)
  AUTHORS   Hofmann,B., Nishanian,P., Nguyen,T., Insixiengmay,P. and Fahey,J.L.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   10 (bases 1 to 3279)
  AUTHORS   Hofmann,B., Nishanian,P., Baldwin,R.L., Insixiengmay,P., Nel,A. and
            Fahey,J.L.
  TITLE     HIV inhibits the early steps of lymphocyte activation, including
            initiation of inositol phospholipid metabolism
  JOURNAL   J Immunol 145 (11), 3699-3705 (1990)
   PUBMED   1978848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA123009.1, AJ249976.1 and
            BC020540.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016203.3.
            
            Summary: AMP-activated protein kinase (AMPK) is a heterotrimeric
            protein composed of a catalytic alpha subunit, a noncatalytic beta
            subunit, and a noncatalytic regulatory gamma subunit. Various forms
            of each of these subunits exist, encoded by different genes. AMPK
            is an important energy-sensing enzyme that monitors cellular energy
            status and functions by inactivating key enzymes involved in
            regulating de novo biosynthesis of fatty acid and cholesterol. This
            gene is a member of the AMPK gamma subunit family. Mutations in
            this gene have been associated with Wolff-Parkinson-White syndrome,
            familial hypertrophic cardiomyopathy, and glycogen storage disease
            of the heart. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. [provided by RefSeq,
            Jan 2015].
            
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a, also referred to as
            PRKAG2-a).
            
            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 :: SRR1803617.43012.1,
                                           SRR1803617.91844.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287878.9/ ENSP00000287878.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-405               DA123009.1         44-448
            406-1751            AJ249976.1         1-1346
            1752-3279           BC020540.1         574-2101
FEATURES             Location/Qualifiers
     source          1..3279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..3279
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="protein kinase AMP-activated non-catalytic subunit
                     gamma 2"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
     exon            1..609
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     CDS             496..2205
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="isoform a is encoded by transcript variant 1;
                     5'-AMP-activated protein kinase subunit gamma-2; AMPK
                     subunit gamma-2; protein kinase, AMP-activated, gamma 2
                     non-catalytic subunit; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="5'-AMP-activated protein kinase subunit gamma-2
                     isoform a"
                     /protein_id="NP_057287.2"
                     /db_xref="CCDS:CCDS5928.1"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
                     /translation="MGSAVMDTKKKKDVSSPGGSGGKKNASQKRRSLRVHIPDLSSFA
                     MPLLDGDLEGSGKHSSRKVDSPFGPGSPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSP
                     KTVFPFSYQESPPRSPRRMSFSGIFRSSSKESSPNSNPATSPGGIRFFSRSRKTSGLS
                     SSPSTPTQVTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLA
                     SPTHYAPSKAAALAAALGPAEAGMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPT
                     SSKLVVFDTTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSP
                     MVQIYELEEHKIETWRELYLQETFKPLVNISPDASLFDAVYSLIKNKIHRLPVIDPIS
                     GNALYILTHKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALN
                     IFVERRISALPVVDESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGV
                     VKCNKLEILETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKET
                     ETE"
     exon            610..681
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            682..961
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1179
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1249
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1359
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1441
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1500
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1546
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1601
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1728
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1729..1894
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1895..1932
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1933..2079
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..2173
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            2174..3279
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2866..2871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="hexamer: AATAAA"
     polyA_site      2889
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
     regulatory      3257..3262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="hexamer: ATTAAA"
     polyA_site      3279
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="major polyA site"
ORIGIN      
        1 attctgcggc cgaggattac atttatgcac gaacgggctt actggttcca gattccccac
       61 ttgggcacag gcataggagg cttgttttcc aaattgctgg ttttaattgc acctgccttt
      121 cagattacct ctgggaatct gtgggaggag ccgagagggt ggaaaatgtt tcttagcttt
      181 gcaaaaggaa gaaaactttg tcacccagcg ggagacctca gccacgagta acccggggag
      241 acaccagaac cgggacgggc tttgactgat ttgcctacga gggttccgta ggaaaggacg
      301 cttgaattcg gcgcttcggc ggcggcggcg gccgcgcgag ttccctgctc accctccctc
      361 tccgcggaag tccccacgag gtggcttcag ggtgtaacag agcgcgcggc tccagtccga
      421 aggcagcggc cgggggaggg aaggagggga ccgaaccccc gaggagtttc gcagaatcaa
      481 cttctggtta gagttatggg aagcgcggtt atggacacca agaagaaaaa agatgtttcc
      541 agccccggcg ggagcggcgg caagaaaaat gccagccaga agaggcgttc gctgcgcgtg
      601 cacattccgg acctgagctc cttcgccatg ccgctcctgg acggagacct ggagggttcc
      661 ggaaagcatt cctctcgaaa ggtggacagc cccttcggcc cgggcagccc ctccaaaggg
      721 ttcttctcca gaggccccca gccccggccc tccagcccca tgtctgcacc tgtgaggccc
      781 aagaccagcc ccggctctcc caaaaccgtg ttcccgttct cctaccagga gtccccgcca
      841 cgctcccctc gacgcatgag cttcagtggg atcttccgct cctcctccaa agagtcttcc
      901 cccaactcca accctgctac ctcgcccggg ggcatcaggt ttttctcccg ctccagaaaa
      961 acctccggcc tctcctcctc tccgtcaaca cccacccaag tgaccaagca gcacacgttt
     1021 cccctggaat cctataagca cgagcctgaa cggttagaga atcgcatcta tgcctcgtct
     1081 tcccccccgg acacagggca gaggttctgc ccgtcttcct tccagagccc gaccaggcct
     1141 ccactggcat caccgacaca ctatgctccc tccaaagccg cggcgctggc ggcggccctg
     1201 ggacccgcgg aagccggcat gctggagaag ctggagttcg aggacgaagc agtagaagac
     1261 tcagaaagtg gtgtttacat gcgattcatg aggtcacaca agtgttatga catcgttcca
     1321 accagttcaa agcttgttgt ctttgatact acattacaag ttaaaaaggc cttctttgct
     1381 ttggtagcca acggtgtccg agcagcgcca ctgtgggaga gtaaaaaaca aagttttgta
     1441 ggaatgctaa caattacaga tttcataaat atactacata gatactataa atcacctatg
     1501 gtacagattt atgaattaga ggaacataaa attgaaacat ggagggagct ttatttacaa
     1561 gaaacattta agcctttagt gaatatatct ccagatgcaa gcctcttcga tgctgtatac
     1621 tccttgatca aaaataaaat ccacagattg cccgttattg accctatcag tgggaatgca
     1681 ctttatatac ttacccacaa aagaatcctc aagttcctcc agctttttat gtctgatatg
     1741 ccaaagcctg ccttcatgaa gcagaacctg gatgagcttg gaataggaac gtaccacaac
     1801 attgccttca tacatccaga cactcccatc atcaaagcct tgaacatatt tgtggaaaga
     1861 cgaatatcag ctctgcctgt tgtggatgag tcaggaaaag ttgtagatat ttattccaaa
     1921 tttgatgtaa ttaatcttgc tgctgagaaa acatacaata acctagatat cacggtgacc
     1981 caggcccttc agcaccgttc acagtatttt gaaggtgttg tgaagtgcaa taagctggaa
     2041 atactggaga ccatcgtgga cagaatagta agagctgagg tccatcggct ggtggtggta
     2101 aatgaagcag atagtattgt gggtattatt tccctgtcgg acattctgca agccctgatc
     2161 ctcacaccag caggtgccaa acaaaaggag acagaaacgg agtgaccgcc gtgaatgtag
     2221 acgccctagg aggagaactt gaacaaagtc tctgggtcac gttttgcctc atgaacactg
     2281 gctgcaagtg gttaagaatg tatatcaggg tttaacaata ggtatttctt ccagtgatgt
     2341 tgaaattaag cttaaaaaag aaagatttta tgtgcttgaa gattcaggct tgcattaaaa
     2401 gactgttttc agacctttgt ctgaaggatt ttaaatgctg tatgtcatta aagtgcactg
     2461 tgtcctgaag ttttcattat ttttcatttc aaagaattca ctggtatgga acaggtgatg
     2521 tggcataagg tgagtgcacg gtatgttcag atcacagtgc cttatgtccg aatacagcaa
     2581 tatgtcaccg ccgcagccgg ggcgcacgcg tgtgaaacaa caccgagctt gaatgtggaa
     2641 gtctttgaac cttttaccaa atcagtttgt tttctttaga tttgtcaaaa agttgtaatt
     2701 tgaatataaa taattacttt aaaattgtaa tgacactttt acacgtaagt gttttgttct
     2761 gggctaccgt gtcaacgagg ctgctttaca acagctttat ttatttttac tttcatgcaa
     2821 tttttttaca catcttttgg tggagtaaac ttcaccacat ccatgaataa actctcagtt
     2881 attttgaaat ggcaaatttc tcattattta agtttggatc tggaaaggac atgacttctg
     2941 aaatagccgc tgctgggttt taaaagctga ggtctctcaa agtgtggagg agacgttgcc
     3001 gtcaggcggg agccaagtgc cgggaagatg tctatttttt ttcttgtgta ttgaaatgta
     3061 aaatcatgat gtttgttatg actgctgatg cgattgtttt tgtaaatttt attgtggcat
     3121 atacagtatt gtcatacagt tgaagagaaa caatgtttcc taatgtaagt gctctgaaaa
     3181 tgttgacact gtatatatat atatgaggat agtttgtttt ttttttgttt tgggtttttt
     3241 tttttcagat tgaaaaatta aaatagatcc tactatcta
//
