LOCUS       NM_001308170            3541 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens adenosine monophosphate deaminase 2 (AMPD2),
            transcript variant 6, mRNA.
ACCESSION   NM_001308170 XM_005270752
VERSION     NM_001308170.1
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 3541)
  AUTHORS   Flores-Mendez,M., Ohl,L., Roule,T., Zhou,Y., Tintos-Hernandez,J.A.,
            Walsh,K., Ortiz-Gonzalez,X.R. and Akizu,N.
  TITLE     IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
  JOURNAL   EMBO Rep 25 (9), 3990-4012 (2024)
   PUBMED   39075237
  REMARK    GeneRIF: IMPDH2 filaments protect from neurodegeneration in AMPD2
            deficiency.
REFERENCE   2  (bases 1 to 3541)
  AUTHORS   Gilboa,T., Elefant,N., Meiner,V. and Hacohen,N.
  TITLE     Delineating the phenotype and genetic basis of AMPD2-related
            pontocerebellar hypoplasia
  JOURNAL   Neurogenetics 24 (1), 61-66 (2023)
   PUBMED   36445597
  REMARK    GeneRIF: Delineating the phenotype and genetic basis of
            AMPD2-related pontocerebellar hypoplasia.
REFERENCE   3  (bases 1 to 3541)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   4  (bases 1 to 3541)
  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   5  (bases 1 to 3541)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3541)
  AUTHORS   Van den Bergh,F. and Sabina,R.L.
  TITLE     Characterization of human AMP deaminase 2 (AMPD2) gene expression
            reveals alternative transcripts encoding variable N-terminal
            extensions of isoform L
  JOURNAL   Biochem J 312 (Pt 2) (Pt 2), 401-410 (1995)
   PUBMED   8526848
REFERENCE   7  (bases 1 to 3541)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   8  (bases 1 to 3541)
  AUTHORS   Bausch-Jurken,M.T., Mahnke-Zizelman,D.K., Morisaki,T. and
            Sabina,R.L.
  TITLE     Molecular cloning of AMP deaminase isoform L. Sequence and
            bacterial expression of human AMPD2 cDNA
  JOURNAL   J Biol Chem 267 (31), 22407-22413 (1992)
   PUBMED   1429593
REFERENCE   9  (bases 1 to 3541)
  AUTHORS   Mahnke-Zizelman,D.K. and Sabina,R.L.
  TITLE     Cloning of human AMP deaminase isoform E cDNAs. Evidence for a
            third AMPD gene exhibiting alternatively spliced 5'-exons
  JOURNAL   J Biol Chem 267 (29), 20866-20877 (1992)
   PUBMED   1400401
REFERENCE   10 (bases 1 to 3541)
  AUTHORS   Ashby,B. and Holmsen,H.
  TITLE     Platelet AMP deaminase. Purification and kinetic studies
  JOURNAL   J Biol Chem 256 (20), 10519-10523 (1981)
   PUBMED   7287721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U16268.1, AK302939.1,
            BC007711.2 and BC030217.1.
            
            On Apr 28, 2015 this sequence version replaced XM_005270752.2.
            
            Summary: The protein encoded by this gene is important in purine
            metabolism by converting AMP to IMP. The encoded protein, which
            acts as a homotetramer, is one of three AMP deaminases found in
            mammals. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            lacks an exon in the 5' coding region compared to variant 4. This
            variant represents translation initiation at an alternate start
            codon compared to variant 4; the 5'-most initiation codon, as used
            in variant 4, is associated with a truncated ORF that would render
            the transcript a candidate for nonsense-mediated decay (NMD). Leaky
            scanning may allow translation initiation at an alternate start
            codon to encode an isoform (5) that is shorter and has a distinct
            N-terminus, compared to isoform 1.
            
            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 :: SRR1660809.99011.1,
                                           SRR1803614.271134.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-353               U16268.1           261-613
            354-1402            AK302939.1         196-1244
            1403-3508           BC007711.2         1572-3677
            3509-3541           BC030217.1         1688-1720
FEATURES             Location/Qualifiers
     source          1..3541
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3541
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="adenosine monophosphate deaminase 2"
                     /db_xref="GeneID:271"
                     /db_xref="HGNC:HGNC:469"
                     /db_xref="MIM:102771"
     exon            1..353
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..2609
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /EC_number="3.5.4.6"
                     /note="isoform 5 is encoded by transcript variant 6;
                     adenosine monophosphate deaminase 2 (isoform L); AMP
                     deaminase 2"
                     /codon_start=1
                     /product="AMP deaminase 2 isoform 5"
                     /protein_id="NP_001295099.1"
                     /db_xref="GeneID:271"
                     /db_xref="HGNC:HGNC:469"
                     /db_xref="MIM:102771"
                     /translation="MWQSQAPAGAAQTPPLSPPWSQPWHPIHLALASPRPNIPLRSGP
                     ACRPPLQLQELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLEPDI
                     LLRAKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPFT
                     DLLDAAKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSA
                     DAPVHPPALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPD
                     LQEFVADVNVLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDF
                     YNIRKVDTHIHASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTA
                     YDLSVDTLDVHADRNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEV
                     MSDLEESKYQNAELRLSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRT
                     KGQLANFQEMLENIFLPLFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLE
                     SPLPEAWVEEDNPPYAYYLYYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVS
                     AFMLAENISHGLLLRKAPVLQYLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGL
                     MVSLSTDDPLQFHFTKEPLMEEYSIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHW
                     LGPNYTKEGPEGNDIRRTNVPDIRVGYRYETLCQELALITQAVQSEMLETIPEEAGIT
                     MSPGPQ"
     exon            354..484
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            485..553
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            554..662
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            663..849
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            850..991
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1081
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1211
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1406
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1538
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1702
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1829
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1830..1993
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2114
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2115..2288
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2399
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2400..3512
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3489..3494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="hexamer: AATAAA"
     polyA_site      3508
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="major polyA site"
ORIGIN      
        1 gcccagccac catcagtcac gtcactcctg ggactgagga ggcaggggag ggataagggg
       61 cagagatgga ggccccactc cccgaggttg cctagacaac atgagaaatc gtggccaggg
      121 cctcttccgc ctgcggagcc gctgcttcct gcatcagtca ctcccgctgg gggcggggcg
      181 gaggaagggg ttggatgtgg cagagccagg ccccagccgg tgccgctcag actcccccgc
      241 tgtcgccgcc gtggtcccag ccatggcatc ctatccatct ggctctggca agcccaaggc
      301 caaatatccc tttaagaagc gggccagcct gcaggcctcc actgcagctc caggagctgt
      361 tcacccgctc actggctgag agcgagctcc gtagtgcccc gtatgagttc cccgaggaga
      421 gccccattga acagctggag gagcggcggc agcggctgga gcggcagatc agccaggatg
      481 tcaagctgga gccagacatc ctgcttcggg ccaagcaaga tttcctgaag acggacagtg
      541 actcggacct acagctctac aaggaacagg gtgaggggca gggtgaccgg agcctgcggg
      601 agcgtgatgt gctggaacgg gagtttcagc gggtcaccat ctctggggag gagaagtgtg
      661 gggtgccgtt cacagacctg ctggatgcag ccaagagtgt ggtgcgggcg ctcttcatcc
      721 gggagaagta catggccctg tccctgcaga gcttctgccc caccacccgc cgctacctgc
      781 agcagctggc tgaaaagcct ctggagaccc ggacctatga acagggcccc gacacccctg
      841 tgtctgctga tgccccggtg cacccccctg cgctggagca gcacccgtat gagcactgtg
      901 agccaagcac catgcctggg gacctgggct tgggtctgcg catggtgcgg ggtgtggtgc
      961 acgtctacac ccgcagggaa cccgacgagc attgctcaga ggtggagctg ccataccctg
     1021 acctgcagga atttgtggct gacgtcaatg tgctgatggc cctgattatc aatggcccca
     1081 taaagtcatt ctgctaccgc cggctgcagt acctgagctc caagttccag atgcatgtgc
     1141 tactcaatga gatgaaggag ctggccgccc agaagaaagt gccacaccga gatttctaca
     1201 acatccgcaa ggtggacacc cacatccatg cctcgtcctg catgaaccag aagcatctgc
     1261 tgcgcttcat caagcgggca atgaagcggc acctggagga gatcgtgcac gtggagcagg
     1321 gccgtgaaca gacgctgcgg gaggtctttg agagcatgaa tctcacggcc tacgacctga
     1381 gtgtggacac gctggatgtg catgcggaca ggaacacttt ccatcgcttt gacaagttta
     1441 atgccaaata caaccctatt ggggagtccg tcctccgaga gatcttcatc aagacggaca
     1501 acagggtatc tgggaagtac tttgctcaca tcatcaagga ggtgatgtca gacctggagg
     1561 agagcaaata ccagaatgca gagctgcggc tctccattta cgggcgctcg agggatgagt
     1621 gggacaagct ggcgcgctgg gccgtcatgc accgcgtgca ctcccccaac gtgcgctggc
     1681 tggtgcaggt gccccgcctc tttgatgtgt accgtaccaa gggccagctg gccaacttcc
     1741 aggagatgct ggagaacatc ttcctgccac tgttcgaggc cactgtgcac cctgccagcc
     1801 acccggaact gcatctcttc ttagagcacg tggatggttt tgacagcgtg gatgatgagt
     1861 ccaagcctga aaaccatgtc ttcaacctgg agagccccct gcctgaggcg tgggtggagg
     1921 aggacaaccc accctatgcc tactacctgt actacacctt tgccaacatg gccatgttga
     1981 accacctgcg caggcagagg ggcttccaca cgtttgtgct gaggccacac tgtggggagg
     2041 ctgggcccat ccaccacctg gtgtcagcct tcatgctggc tgagaacatt tcccacgggc
     2101 tccttctgcg caaggccccc gtcctgcagt acctgtacta cctggcccag atcggcatcg
     2161 ccatgtctcc gctcagcaac aacagcctct tcctcagcta tcaccggaat ccgctaccgg
     2221 agtacctgtc ccgcggcctc atggtctccc tgtccactga tgatcccttg cagttccact
     2281 tcaccaagga gccgctgatg gaggagtaca gcatcgccac ccaggtgtgg aagctcagct
     2341 cctgcgatat gtgtgagctg gcccgcaaca gcgtgctcat gagcggcttc tcgcacaagg
     2401 taaagagcca ctggctggga cccaactata ccaaggaagg ccctgagggg aatgacatcc
     2461 gccggaccaa tgtgccagac atccgcgtgg gctaccgcta cgagaccctg tgccaggagc
     2521 tggcgctcat cacgcaggca gtccagagtg agatgctgga gaccattcca gaggaggcgg
     2581 gtatcaccat gagcccaggg cctcaatgag cctggtccat gaagtgccca ccacatcgca
     2641 gcacttttac cacgttttgt cctcagaccc cgcccatgct gtgtggtctc tgcatgtctc
     2701 cattcttctc tgtctctgtc ttgcatgtct cctaccatgt cactgtccct gggccaccca
     2761 gtgaaagcaa agcctgggaa tctgctcatt gttgtttggg ctcaggtatt gagcctgatg
     2821 gcccaggtat tgagggcctc ccctgctggt ggccctgtcc tgggatcctc agaagcctga
     2881 ctgtcctatg ggcttctcca gtgtccacag gggcttggga tggttgtggg gggctggccc
     2941 ctctagcctt tccggtcctt cctgggcaaa tctaagcctt ggccagggcc gaagtttagg
     3001 cccctgtctt gttcatgtag ccgaggggca ggcgggggac ctctacacct ctgctgtggg
     3061 cacggggctg ctgagggtct gtggaactcc agcagctctg cactgggtag agctgggcct
     3121 agagctcagt cacaggcctg ggcttcctgg cctgagtggg tagacgcagg cggcagaggt
     3181 gctggaccac atctccgcca agtcactgcc cagcagcctt ctccgtcctg tccccagccc
     3241 acgtgctcct tgggtgtcag cttcctgtgc ctctgtggga gagggcagct gccttgtgtt
     3301 atgtctgggg ccacagttgc tgcaaagtcc tggatctgcc actcaacccc gggagtggtg
     3361 ttcccagtgt ggctcccaga gctttgacca gattgtgatc ccagctggcc cctatgttgt
     3421 gttctggact gaggcctttg ctgtgaactg cagtgtttca tacgaaccat ctttcctagt
     3481 gcatgagaaa taaagattat ttaagtaatg agaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     3541 a
//
