LOCUS       NM_001363698            2682 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens protein kinase AMP-activated non-catalytic subunit
            gamma 2 (PRKAG2), transcript variant 6, mRNA.
ACCESSION   NM_001363698 XM_017012273
VERSION     NM_001363698.2
KEYWORDS    RefSeq.
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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 2682)
  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 AC006358.6 and AC006966.3.
            
            On Aug 13, 2020 this sequence version replaced NM_001363698.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038193.1385594.1,
                                           SRR14038197.1211409.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-364               AC006358.6         28661-29024
            365-582             AC006358.6         89287-89504
            583-652             AC006358.6         132786-132855
            653-762             AC006966.3         26454-26563
            763-844             AC006966.3         45456-45537
            845-903             AC006966.3         46959-47017
            904-949             AC006966.3         49199-49244
            950-1004            AC006966.3         51683-51737
            1005-1131           AC006966.3         53066-53192
            1132-1297           AC006966.3         56023-56188
            1298-1335           AC006966.3         56525-56562
            1336-1482           AC006966.3         57684-57830
            1483-1576           AC006966.3         61291-61384
            1577-2682           AC006966.3         64676-65781
FEATURES             Location/Qualifiers
     source          1..2682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..2682
                     /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..364
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     CDS             271..1608
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="isoform e is encoded by transcript variant 6;
                     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 e"
                     /protein_id="NP_001350627.1"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
                     /translation="MKRFGSLRSNKKHKDQNRSTERRQSEPHGLFASGLSSSPSTPTQ
                     VTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAPS
                     KAAALAAALGPAEAGMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKLVVFD
                     TTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELE
                     EHKIETWRELYLQETFKPLVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILT
                     HKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRIS
                     ALPVVDESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEI
                     LETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKETETE"
     exon            365..582
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            583..652
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            653..762
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            763..844
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            845..903
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            904..949
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1004
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1131
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1297
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1335
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1482
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1576
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..2682
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2269..2274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="hexamer: AATAAA"
     polyA_site      2292
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
     regulatory      2660..2665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="hexamer: ATTAAA"
     polyA_site      2682
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /note="major polyA site"
ORIGIN      
        1 gctgtggccg gaggtgcagc cccgtcagga cggctccact ccctggcgcc tcacagactc
       61 tggggctgcg gtgaggtcgc cctgaagacc ccctggtgag gacgcttgaa cccgggctgt
      121 cacctgagca caggctgcca ctctgagctt ttggggcgcc ctgtgcctgt cgggctgatg
      181 ctcctctggc tcccggccac ctggggctga caccggttct gtgggtcctg atatgttcac
      241 ctgtcgccac tcctgtggcc acagctaccc atgaagcgct ttgggagcct caggagcaac
      301 aagaaacaca aggaccaaaa tcgaagcacg gagaggcgcc agtcggagcc tcatggcctt
      361 ttcgcctccg gcctctcctc ctctccgtca acacccaccc aagtgaccaa gcagcacacg
      421 tttcccctgg aatcctataa gcacgagcct gaacggttag agaatcgcat ctatgcctcg
      481 tcttcccccc cggacacagg gcagaggttc tgcccgtctt ccttccagag cccgaccagg
      541 cctccactgg catcaccgac acactatgct ccctccaaag ccgcggcgct ggcggcggcc
      601 ctgggacccg cggaagccgg catgctggag aagctggagt tcgaggacga agcagtagaa
      661 gactcagaaa gtggtgttta catgcgattc atgaggtcac acaagtgtta tgacatcgtt
      721 ccaaccagtt caaagcttgt tgtctttgat actacattac aagttaaaaa ggccttcttt
      781 gctttggtag ccaacggtgt ccgagcagcg ccactgtggg agagtaaaaa acaaagtttt
      841 gtaggaatgc taacaattac agatttcata aatatactac atagatacta taaatcacct
      901 atggtacaga tttatgaatt agaggaacat aaaattgaaa catggaggga gctttattta
      961 caagaaacat ttaagccttt agtgaatata tctccagatg caagcctctt cgatgctgta
     1021 tactccttga tcaaaaataa aatccacaga ttgcccgtta ttgaccctat cagtgggaat
     1081 gcactttata tacttaccca caaaagaatc ctcaagttcc tccagctttt tatgtctgat
     1141 atgccaaagc ctgccttcat gaagcagaac ctggatgagc ttggaatagg aacgtaccac
     1201 aacattgcct tcatacatcc agacactccc atcatcaaag ccttgaacat atttgtggaa
     1261 agacgaatat cagctctgcc tgttgtggat gagtcaggaa aagttgtaga tatttattcc
     1321 aaatttgatg taattaatct tgctgctgag aaaacataca ataacctaga tatcacggtg
     1381 acccaggccc ttcagcaccg ttcacagtat tttgaaggtg ttgtgaagtg caataagctg
     1441 gaaatactgg agaccatcgt ggacagaata gtaagagctg aggtccatcg gctggtggtg
     1501 gtaaatgaag cagatagtat tgtgggtatt atttccctgt cggacattct gcaagccctg
     1561 atcctcacac cagcaggtgc caaacaaaag gagacagaaa cggagtgacc gccgtgaatg
     1621 tagacgccct aggaggagaa cttgaacaaa gtctctgggt cacgttttgc ctcatgaaca
     1681 ctggctgcaa gtggttaaga atgtatatca gggtttaaca ataggtattt cttccagtga
     1741 tgttgaaatt aagcttaaaa aagaaagatt ttatgtgctt gaagattcag gcttgcatta
     1801 aaagactgtt ttcagacctt tgtctgaagg attttaaatg ctgtatgtca ttaaagtgca
     1861 ctgtgtcctg aagttttcat tatttttcat ttcaaagaat tcactggtat ggaacaggtg
     1921 atgtggcata aggtgagtgc acggtatgtt cagatcacag tgccttatgt ccgaatacag
     1981 caatatgtca ccgccgcagc cggggcgcac gcgtgtgaaa caacaccgag cttgaatgtg
     2041 gaagtctttg aaccttttac caaatcagtt tgttttcttt agatttgtca aaaagttgta
     2101 atttgaatat aaataattac tttaaaattg taatgacact tttacacgta agtgttttgt
     2161 tctgggctac cgtgtcaacg aggctgcttt acaacagctt tatttatttt tactttcatg
     2221 caattttttt acacatcttt tggtggagta aacttcacca catccatgaa taaactctca
     2281 gttattttga aatggcaaat ttctcattat ttaagtttgg atctggaaag gacatgactt
     2341 ctgaaatagc cgctgctggg ttttaaaagc tgaggtctct caaagtgtgg aggagacgtt
     2401 gccgtcaggc gggagccaag tgccgggaag atgtctattt tttttcttgt gtattgaaat
     2461 gtaaaatcat gatgtttgtt atgactgctg atgcgattgt ttttgtaaat tttattgtgg
     2521 catatacagt attgtcatac agttgaagag aaacaatgtt tcctaatgta agtgctctga
     2581 aaatgttgac actgtatata tatatatgag gatagtttgt tttttttttg ttttgggttt
     2641 ttttttttca gattgaaaaa ttaaaataga tcctactatc ta
//
