LOCUS       NM_001625               5970 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens adenylate kinase 2 (AK2), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001625
VERSION     NM_001625.4
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 5970)
  AUTHORS   Sobh,A., Encinas,E., Patel,A., Surapaneni,G., Bonilla,E.,
            Kaestner,C., Poullard,J., Clerio,M., Vasan,K., Freeman,T., Lv,D.,
            Dupere-Richer,D., Riva,A., Barwick,B.G., Zhou,D., Boise,L.H.,
            Mitsiades,C.S., Kim,B., Bennett,R.L., Chandel,N.S. and Licht,J.D.
  TITLE     NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2
            by diverting one-carbon metabolism to the epigenome
  JOURNAL   Blood 144 (3), 283-295 (2024)
   PUBMED   38598835
  REMARK    GeneRIF: NSD2 drives t(4;14) myeloma cell dependence on adenylate
            kinase 2 by diverting one-carbon metabolism to the epigenome.
REFERENCE   2  (bases 1 to 5970)
  AUTHORS   Kim,Y., Ahmed,S. and Miller,W.T.
  TITLE     Colorectal cancer-associated mutations impair EphB1 kinase function
  JOURNAL   J Biol Chem 299 (9), 105115 (2023)
   PUBMED   37527777
  REMARK    GeneRIF: Colorectal cancer-associated mutations impair EphB1 kinase
            function.
REFERENCE   3  (bases 1 to 5970)
  AUTHORS   Liu,Z., Tang,C., Teng,X., Mohamed,Z.A. and Fan,J.
  TITLE     Adenylate kinase 2 is a biomarker related to the prognosis of
            glioma and the immune microenvironment
  JOURNAL   J Clin Lab Anal 37 (8), e24892 (2023)
   PUBMED   37161605
  REMARK    GeneRIF: Adenylate kinase 2 is a biomarker related to the prognosis
            of glioma and the immune microenvironment.
REFERENCE   4  (bases 1 to 5970)
  AUTHORS   Kim,H., Jeong,M., Na,D.H., Ryu,S.H., Jeong,E.I., Jung,K., Kang,J.,
            Lee,H.J., Sim,T., Yu,D.Y., Yu,H.C., Cho,B.H. and Jung,Y.K.
  TITLE     AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis
  JOURNAL   Cell Death Dis 13 (5), 469 (2022)
   PUBMED   35585049
  REMARK    GeneRIF: AK2 is an AMP-sensing negative regulator of BRAF in
            tumorigenesis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5970)
  AUTHORS   Noma,T., Song,S., Yoon,Y.S., Tanaka,S. and Nakazawa,A.
  TITLE     cDNA cloning and tissue-specific expression of the gene encoding
            human adenylate kinase isozyme 2
  JOURNAL   Biochim Biophys Acta 1395 (1), 34-39 (1998)
   PUBMED   9434148
REFERENCE   6  (bases 1 to 5970)
  AUTHORS   Lee,Y., Kim,J.W., Lee,S.M., Kim,H.J., Lee,K.S., Park,C. and
            Choe,I.S.
  TITLE     Cloning and expression of human adenylate kinase 2 isozymes:
            differential expression of adenylate kinase 1 and 2 in human muscle
            tissues
  JOURNAL   J Biochem 123 (1), 47-54 (1998)
   PUBMED   9504408
REFERENCE   7  (bases 1 to 5970)
  AUTHORS   Lee,Y., Kim,J.W., Lee,I.A., Kang,H.B., Choe,Y.K., Lee,H.G.,
            Lim,J.S., Kim,H.J., Park,C. and Choe,I.S.
  TITLE     Cloning and characterization of cDNA for human adenylate kinase 2A
  JOURNAL   Biochem Mol Biol Int 39 (4), 833-842 (1996)
   PUBMED   8843353
REFERENCE   8  (bases 1 to 5970)
  AUTHORS   Hamada,M., Sumida,M., Okuda,H., Watanabe,T., Nojima,M. and
            Kuby,S.A.
  TITLE     Adenosine triphosphate-adenosine-5'-monophosphate
            phosphotransferase from normal human liver mitochondria. Isolation,
            chemical properties, and immunochemical comparison with Duchenne
            dystrophic serum aberrant adenylate kinase
  JOURNAL   J Biol Chem 257 (21), 13120-13128 (1982)
   PUBMED   6182143
REFERENCE   9  (bases 1 to 5970)
  AUTHORS   Carritt,B., King,J. and Welch,H.M.
  TITLE     Gene order and localization of enzyme loci on the short arm of
            chromosome 1
  JOURNAL   Ann Hum Genet 46 (4), 329-335 (1982)
   PUBMED   6961883
REFERENCE   10 (bases 1 to 5970)
  AUTHORS   Bruns,G.A. and Regina,V.M.
  TITLE     Adenylate kinase 2, a mitochondrial enzyme
  JOURNAL   Biochem Genet 15 (5-6), 477-486 (1977)
   PUBMED   195572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC409829.1, BC070127.1 and
            AL020995.14.
            
            On Mar 20, 2019 this sequence version replaced NM_001625.3.
            
            Summary: Adenylate kinases are involved in regulating the adenine
            nucleotide composition within a cell by catalyzing the reversible
            transfer of phosphate groups among adenine nucleotides. Three
            isozymes of adenylate kinase, namely 1, 2, and 3, have been
            identified in vertebrates; this gene encodes isozyme 2. Expression
            of these isozymes is tissue-specific and developmentally regulated.
            Isozyme 2 is localized in the mitochondrial intermembrane space and
            may play a role in apoptosis. Mutations in this gene are the cause
            of reticular dysgenesis. Alternate splicing results in multiple
            transcript variants. Pseudogenes of this gene are found on
            chromosomes 1 and 2.[provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1), also known as AK2A, encodes
            the longest isoform (a).
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000672715.1/
                                                  ENSP00000499935.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DC409829.1         12-41
            31-912              BC070127.1         1-882
            913-5970            AL020995.14        17506-22563         c
FEATURES             Location/Qualifiers
     source          1..5970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..5970
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="adenylate kinase 2"
                     /db_xref="GeneID:204"
                     /db_xref="HGNC:HGNC:362"
                     /db_xref="MIM:103020"
     exon            1..148
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..775
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /EC_number="2.7.4.3"
                     /note="isoform a is encoded by transcript variant 1;
                     adenylate kinase isoenzyme 2, mitochondrial; ATP-AMP
                     transphosphorylase 2; ATP:AMP phosphotransferase;
                     adenylate monophosphate kinase; testis secretory
                     sperm-binding protein Li 220n"
                     /codon_start=1
                     /product="adenylate kinase 2, mitochondrial isoform a"
                     /protein_id="NP_001616.1"
                     /db_xref="CCDS:CCDS374.1"
                     /db_xref="GeneID:204"
                     /db_xref="HGNC:HGNC:362"
                     /db_xref="MIM:103020"
                     /translation="MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHL
                     ATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFP
                     RTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
                     EPMKDDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDV
                     VFASILAAFSKATCKDLVMFI"
     exon            149..274
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     exon            275..385
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     exon            386..480
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     exon            481..553
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     exon            554..5970
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      888..893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="hexamer: ATTAAA"
     polyA_site      912
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="major polyA site"
     regulatory      4014..4019
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="hexamer: AATAAA"
     polyA_site      4036
                     /gene="AK2"
                     /gene_synonym="ADK2"
     regulatory      5054..5059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="hexamer: AATAAA"
     polyA_site      5076
                     /gene="AK2"
                     /gene_synonym="ADK2"
     regulatory      5950..5955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /note="hexamer: ATTAAA"
     polyA_site      5970
                     /gene="AK2"
                     /gene_synonym="ADK2"
ORIGIN      
        1 aagcactgga cctgtgaggc gtgcgaactg gtggcagtga gagacttcgg cggacatggc
       61 tcccagcgtg ccagcggcag aacccgagta tcctaaaggc atccgggccg tgctgctggg
      121 gcctcccggg gccggtaaag ggacccaggc acccagattg gctgaaaact tctgtgtctg
      181 ccatttagct actggggaca tgctgagggc catggtggct tctggctcag agctaggaaa
      241 aaagctgaag gcaactatgg atgctgggaa actggtgagt gatgaaatgg tagtggagct
      301 cattgagaag aatttggaga cccccttgtg caaaaatggt tttcttctgg atggcttccc
      361 tcggactgtg aggcaggcag aaatgctcga tgacctcatg gagaagagga aagagaagct
      421 tgattctgtg attgaattca gcatcccaga ctctctgctg atccgaagaa tcacaggaag
      481 gctgattcac cccaagagtg gccgttccta ccacgaggag ttcaaccctc caaaagagcc
      541 catgaaagat gacatcaccg gggaaccctt gatccgtcga tcagatgata atgaaaaggc
      601 cttgaaaatc cgcctgcaag cctaccacac tcaaaccacc ccactcatag agtactacag
      661 gaaacggggg atccactccg ccatcgatgc atcccagacc cccgatgtcg tgttcgcaag
      721 catcctagca gccttctcca aagccacatg taaagacttg gttatgttta tctaatgttg
      781 ggtccaagaa ggaatttctt tccatccctg tgaggcaatg ggtgggaatg ataggacagg
      841 caaagagaag cttcctcagg ctagcaaaaa tatcatttga tgtattgatt aaaaaagcac
      901 ttgcttgatg tatctttggc gtgtgtgcta ctctcatctg tgtgtatgtg tgttgtgtgt
      961 gtgtgtgtgt gcatgcacat atgtgttcac tctgctactt tgtaagtttt aggctaggtt
     1021 gctttaccag ctgtttactt cttttttgtt gttgttttga gacaaggttt cgctctgcca
     1081 ccctggctgg agtgcagtgg cgtgatcttg gctcacggca acctctgcct cctggggctc
     1141 aagcaattat cccacctcag cctcctgagc agctgggact acaggtgcat gccacaacac
     1201 ctggctgata tttgtatttt ttgtagagac aggattttgc caagttgccc aggctggtct
     1261 tgaactccta ggcttaagca atccacccac cttggcctcc tgaagtgcca ggatcacaga
     1321 cgtgagccac tacacccagc ccagctgttt acttctttaa ccatactttt gattttattt
     1381 tttgaccaaa atgaactaac ccaggtaatc ttccagggac cgcaattcca gaacctcata
     1441 gtatttcttc catttccagc agctgattag aagtccagga tcatgtgaag tcaggcaggg
     1501 tcacagttcc tgatggcaca ttatggacag agaattccat tttgttttct aacccatgat
     1561 gaaaacccac gtgagtcagt gtgtgaacag ggatcattaa ttttttcccc ctaggtggaa
     1621 ggaaaaaggc acttactttg caggttacag aaattactgg gagaggatat cgtcataaaa
     1681 agagccaggc caaattggaa tatttttgtg atctgcatca tgatgctgaa aatagcaatt
     1741 atttgggaat tgggtttgaa aactgaattg ttgccagaga attaaaccag gtgaaaggtc
     1801 cttttgaatt cagattgtct tctgaacatc caggctgatc atctgagagc agtcaaatct
     1861 acttccccaa aaagagacca gggtaggttt atttgctttt atttttaatg tttgcctgtg
     1921 tttccaagtg tgaacaaaac agtgtgtgat ctattcttgg attcattttg atcagtattt
     1981 attcaaaccc agtctctctc caggacataa aactgaaatc agatatgttc tttttaagcc
     2041 caaaccctct cctttctaga tccaaccctt cacccctaat tttatgatgg ctatagccat
     2101 ggacttcccc aagaaaagat cacccagaaa taagaccacc tgtgacagtt accagctttt
     2161 attcataacc ttagcttccc aactattgag cattttctaa ggtccctgct gtcttttggt
     2221 ctctggtttg atttgtggca aacagatgaa gtaacagact gctatgaagg accacaaaaa
     2281 cggcagcctc tggaaaaacc attagaaagt cagtggcaga tccagtaaat aatatcgcca
     2341 gcctcagcat aatctgctgc tgactcgatt cagtggactc taaagtgccc agcctcctga
     2401 cctgagctct cctgccatct gtgagactac cagaggtctt atctgctgtc cacatggcaa
     2461 ctgggcatga gtacctggcc accttgcttc cctctttgcc tggtccaagt gagtgtctgc
     2521 tgcctctgtc ctgccttgtt ttcctggctc taaaccaact ccacccactc ttaatggaaa
     2581 ctcagtctgg ctttgtgtgt ttctgggaag cacatgactt ctgggaatgg gcaaggaaga
     2641 ggagtgaaac aaaaactgtc agctatgtgt gcctggtctg ggatccttct ctgggtgaca
     2701 gtggcatcat gaatcttaga atcagctccc ctttaactag ggacaattgt aagcacttgg
     2761 cctcaaagtt gaggttcttg aatgtttgct aattttatgt gcatgatcct tgcccaaata
     2821 tttgtcatcc gtccacatag attcacgtgt gcatacaaca tgtacaagta atatttgggc
     2881 tgcccataag aactggaaga ttcataggga atgcatatac ccttctcagt atggttagga
     2941 ttctgttttt gcttcattta attccagagt tcctcagcct cagcaggttc tgcttttacc
     3001 tgtcacagaa atgtccagtg tttaatgcat ttggttgctg gggcttacat gccagcctcc
     3061 tctgatatgt acttggtttt taaaaaccca ttttgttctc tcttgtttcc tctctatttc
     3121 agcctagtat cagaaggcca ggcgagactg caacactgct catcaccccg cggcgtgatc
     3181 cctgctctta ggtgctgggc agaggggaag ggtggtcagg gtgaggatgg tgagggaggg
     3241 ctggtgaggg gctcagagga atacttggaa caacagcagt gttattgtag tgtggcagtt
     3301 tcttttatac ataggtgaga gtttttaaag tgtaagggaa aaattaattt tttaaaaaac
     3361 accatgcttg gagggtgggg gtagaaatag acacaatatt atttctaagg aatcgggttt
     3421 tcatttactc tggactggtg aaaatatttt ttaaagccag tgctctaaga cctcagcttt
     3481 tatctcagaa ccccatgggt tccagaccaa gagtacagga aatcaaattg ttgtcctgtc
     3541 tgtctatagc ttggaacagg gagctttgat tactgactcc ggttccacac actgtaagat
     3601 caaaaaacca tctccacatt tgaaagagat gtaaggtgta ttcataggga tggtggctca
     3661 acaaatcaag caaactggaa tcaaggggag ggggaaggga atgaaatgga aagggaggct
     3721 gattcccttc ccctgactta ccactaattt actaggctac ctactttcat gagtaacctc
     3781 tcacagctac ccagcacatg ccacaatcct atgctcttgc cttcttttat ctgcactgtg
     3841 tgaagggact cttttaaata aatgagcaag tgtcctaagc tatgtcatcc aaagattgtc
     3901 ctttccattc tcaaatcctg tgactgggat cactcaacag cactgtgatg tattattttc
     3961 aatgaggtgc ctttcttaac tgaccaaatg ctgccttgtt tggcccctaa atcaataaaa
     4021 tatgttaaaa tttgtatccc ctgttgtggc atttttttta gataatctaa gctagaaaaa
     4081 tgacattgaa ttctggacct ggctggaagg aaaagaagcc ctttcttgtc gctggcagct
     4141 gtgtggtagg gaggtccaag tatgtgcata tgagataagc ctgcaacctc ttgaccttca
     4201 gctcctatgc aggcttctct tgagcccaga gacaaggcag cttggtctag tggagatagc
     4261 actgtgcttg gagttcaggg gacctaggac aaatcccagc cagttagtta ttcactgtgc
     4321 tcctgtttcc tcagctgaaa aaggaagttg gttatgccac cttcttggcc ttaatggcat
     4381 taaatgaaat ttataggaag aaggtttttg ctcagtacct ggcatgcaac agacattgga
     4441 taaatgttag ttggatccag atatacacag aaagatatct gcttcctgcc aggctggata
     4501 actgttgaat ggacacttgt ccatagtcta gaaagccagt gcttctaatc cttaagccag
     4561 atctttgact accttttcag ttgcttcttt aacactcttt gttgcttctc tgtgtgtcct
     4621 agtttaaatt catttcctct ccagcaaaag tgagcttaaa taatttctcc aaactaaagc
     4681 tctcatgttt ttggaagggc tgcctttgca agtgaggttt ctgagaaatg actgttgttc
     4741 ccaaaacaag agggagctgg gctggaagca ccactattct tctttaggca tcttgttaca
     4801 gagagaggca gggtcttcac tgacatatta aatcctgttc cctgaaccag cccctccctc
     4861 ttctgctcca cttcctcacc tgtgcagagt cattttcagg tgttagcctt actgatttgc
     4921 actgatctgt ttgttccctg agctttttaa ataccctgtg aaaattttct ttcctccctt
     4981 ggtcatcatg catctaattg tggggaaatg tttgtcaaac caacctgcaa agcagcatgg
     5041 tgtagttgag aagaataaac agagaagact gggtgagcta ttgtttgttt gcttctttgg
     5101 gcctgggttt cctcatctaa tctgcaaacc aagaatgcag actagtccta ccactcccgg
     5161 aagactgacg ttgtgccagg tattatgcaa aggcttcatg taaccctcga cttcacgtaa
     5221 ccctcacaca gcaccctgtg gagtcagaac tgtccttcac ttttataggt gaggaaacca
     5281 gactcagaga ggtgaagtgg cattcctgag gtcatgcata agaggcagtc aggactgaaa
     5341 cacagtctct aacacttatc cgtccccttg atcttgttgc tgaagtgatt taattacttg
     5401 cgtagctctg cacacaggaa gggctgctct gaataagagc tcttttccat ggacactcag
     5461 cgctgccgga actgattttg aagaagtcac tgccggctct gagggcctag ggtatgtgtc
     5521 ttaggatctc ctgtgtgcac aaagtgtcac tgacagaaca cagcaggatg gagagcagcc
     5581 tcctcagaag cctcacaagt ctttcctcag atgaagacag agcaacgagt cagaagacag
     5641 atttcaacag cgacttcacc atgcgacctt ggacaagtta tctcacctca tcagtagaat
     5701 aggaatgatc cctacccctc aaaggtgctg atgacactag tgaccaagat actcatgtgg
     5761 gttggactgc ccaggacaca gcagatgctt agtaaacaca gatggaattc agagggaaaa
     5821 tgtaggcatt gaagaaagtt gtcttactga ccatccggaa ccaggctaag gatcccctag
     5881 aaatcataga cctctgaaat tatatgcaga attctttatg tgttttcata attaataata
     5941 gtctaacata ttaaattctt agctgtgtga
//
