LOCUS       NM_001368809            4081 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens adenosine monophosphate deaminase 2 (AMPD2),
            transcript variant 4, mRNA.
ACCESSION   NM_001368809 NM_001257360
VERSION     NM_001368809.2
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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 4081)
  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 AL355310.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 7, 2019 this sequence version replaced NM_001368809.1.
            
            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 (4) represents the longest
            transcript and encodes the longest isoform (1). Variants 1 and 4
            both encode the same isoform (1).
            
            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 :: AK314494.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            MANE Ensembl match               :: ENST00000528667.7/
                                                ENSP00000436541.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-442               AL355310.20        80890-81331
            443-795             AL355310.20        81967-82319
            796-926             AL355310.20        86356-86486
            927-1057            AL355310.20        86715-86845
            1058-1126           AL355310.20        87213-87281
            1127-1235           AL355310.20        87372-87480
            1236-1422           AL355310.20        87779-87965
            1423-1564           AL355310.20        88228-88369
            1565-1654           AL355310.20        88482-88571
            1655-1784           AL355310.20        88827-88956
            1785-1979           AL355310.20        89136-89330
            1980-2111           AL355310.20        89417-89548
            2112-2275           AL355310.20        89696-89859
            2276-2402           AL355310.20        90162-90288
            2403-2566           AL355310.20        90380-90543
            2567-2687           AL355310.20        90849-90969
            2688-2861           AL355310.20        91286-91459
            2862-2972           AL355310.20        91736-91846
            2973-4081           AL355310.20        91996-93104
FEATURES             Location/Qualifiers
     source          1..4081
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..4081
                     /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..442
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            443..795
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     CDS             705..3182
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /EC_number="3.5.4.6"
                     /note="isoform 1 is encoded by transcript variant 4;
                     adenosine monophosphate deaminase 2 (isoform L); AMP
                     deaminase 2"
                     /codon_start=1
                     /product="AMP deaminase 2 isoform 1"
                     /protein_id="NP_001355738.1"
                     /db_xref="CCDS:CCDS805.2"
                     /db_xref="GeneID:271"
                     /db_xref="HGNC:HGNC:469"
                     /db_xref="MIM:102771"
                     /translation="MASYPSGSGKPKAKYPFKKRASLQASTAAPEARGGLGAPPLQSA
                     RSLPGPAPCLKHFPLDLRTSMDGKCKEIAEELFTRSLAESELRSAPYEFPEESPIEQL
                     EERRQRLERQISQDVKLEPDILLRAKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDV
                     LEREFQRVTISGEEKCGVPFTDLLDAAKSVVRALFIREKYMALSLQSFCPTTRRYLQQ
                     LAEKPLETRTYEQGPDTPVSADAPVHPPALEQHPYEHCEPSTMPGDLGLGLRMVRGVV
                     HVYTRREPDEHCSEVELPYPDLQEFVADVNVLMALIINGPIKSFCYRRLQYLSSKFQM
                     HVLLNEMKELAAQKKVPHRDFYNIRKVDTHIHASSCMNQKHLLRFIKRAMKRHLEEIV
                     HVEQGREQTLREVFESMNLTAYDLSVDTLDVHADRNTFHRFDKFNAKYNPIGESVLRE
                     IFIKTDNRVSGKYFAHIIKEVMSDLEESKYQNAELRLSIYGRSRDEWDKLARWAVMHR
                     VHSPNVRWLVQVPRLFDVYRTKGQLANFQEMLENIFLPLFEATVHPASHPELHLFLEH
                     VDGFDSVDDESKPENHVFNLESPLPEAWVEEDNPPYAYYLYYTFANMAMLNHLRRQRG
                     FHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLRKAPVLQYLYYLAQIGIAMSPLS
                     NNSLFLSYHRNPLPEYLSRGLMVSLSTDDPLQFHFTKEPLMEEYSIATQVWKLSSCDM
                     CELARNSVLMSGFSHKVKSHWLGPNYTKEGPEGNDIRRTNVPDIRVGYRYETLCQELA
                     LITQAVQSEMLETIPEEAGITMSPGPQ"
     exon            796..926
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1057
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1126
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1235
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1422
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1564
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1654
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1784
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1979
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2111
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..2275
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..2402
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2403..2566
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2567..2687
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2688..2861
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2862..2972
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2973..4081
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4062..4067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="hexamer: AATAAA"
     polyA_site      4081
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="major polyA site"
ORIGIN      
        1 aagggccgca gagcctggcg cggagccggc gagattttgg tggggtctca cctgttgcgt
       61 gactccccca cagtccggcc gcgggagtcc gaccctgaat gcccagggag tgttgagaga
      121 aatctggacg agtttcgggt cccgctccct tgggagcacg tggcctacca gcctctcgat
      181 tgcagggttg ggtggtcgcg acaccggggt cgccttgagg ccagtccggc tgccgaggtc
      241 tgcgggagtc cacctccggc cagctggcaa ttttgaaaga ctgccttact ttccccatct
      301 cagtgccagg gcaggggccc ttggagtgac ttggctgggg tctgtggccc gatccccctg
      361 ccgtccctca ggacccgggc tttctgctgt acagacttct cgtgggcagc ctcccctcgg
      421 aactcgggca tcatggcctc aggcccagcc accatcagtc acgtcactcc tgggactgag
      481 gaggcagggg agggataagg ggcagagatg gaggccccac tccccgaggt tgcctagaca
      541 acatgagaaa tcgtggccag ggcctcttcc gcctgcggag ccgctgcttc ctgcatcagt
      601 cactcccgct gggggcgggg cggaggaagg ggttggatgt ggcagagcca ggccccagcc
      661 ggtgccgctc agactccccc gctgtcgccg ccgtggtccc agccatggca tcctatccat
      721 ctggctctgg caagcccaag gccaaatatc cctttaagaa gcgggccagc ctgcaggcct
      781 ccactgcagc tccagaggct cggggtggtc tgggggcccc tccgctgcag tctgcccgat
      841 ccctgccggg ccccgccccc tgcctcaagc acttcccgct cgacctgcgc acgtctatgg
      901 atggcaaatg caaggagatc gccgaggagc tgttcacccg ctcactggct gagagcgagc
      961 tccgtagtgc cccgtatgag ttccccgagg agagccccat tgaacagctg gaggagcggc
     1021 ggcagcggct ggagcggcag atcagccagg atgtcaagct ggagccagac atcctgcttc
     1081 gggccaagca agatttcctg aagacggaca gtgactcgga cctacagctc tacaaggaac
     1141 agggtgaggg gcagggtgac cggagcctgc gggagcgtga tgtgctggaa cgggagtttc
     1201 agcgggtcac catctctggg gaggagaagt gtggggtgcc gttcacagac ctgctggatg
     1261 cagccaagag tgtggtgcgg gcgctcttca tccgggagaa gtacatggcc ctgtccctgc
     1321 agagcttctg ccccaccacc cgccgctacc tgcagcagct ggctgaaaag cctctggaga
     1381 cccggaccta tgaacagggc cccgacaccc ctgtgtctgc tgatgccccg gtgcaccccc
     1441 ctgcgctgga gcagcacccg tatgagcact gtgagccaag caccatgcct ggggacctgg
     1501 gcttgggtct gcgcatggtg cggggtgtgg tgcacgtcta cacccgcagg gaacccgacg
     1561 agcattgctc agaggtggag ctgccatacc ctgacctgca ggaatttgtg gctgacgtca
     1621 atgtgctgat ggccctgatt atcaatggcc ccataaagtc attctgctac cgccggctgc
     1681 agtacctgag ctccaagttc cagatgcatg tgctactcaa tgagatgaag gagctggccg
     1741 cccagaagaa agtgccacac cgagatttct acaacatccg caaggtggac acccacatcc
     1801 atgcctcgtc ctgcatgaac cagaagcatc tgctgcgctt catcaagcgg gcaatgaagc
     1861 ggcacctgga ggagatcgtg cacgtggagc agggccgtga acagacgctg cgggaggtct
     1921 ttgagagcat gaatctcacg gcctacgacc tgagtgtgga cacgctggat gtgcatgcgg
     1981 acaggaacac tttccatcgc tttgacaagt ttaatgccaa atacaaccct attggggagt
     2041 ccgtcctccg agagatcttc atcaagacgg acaacagggt atctgggaag tactttgctc
     2101 acatcatcaa ggaggtgatg tcagacctgg aggagagcaa ataccagaat gcagagctgc
     2161 ggctctccat ttacgggcgc tcgagggatg agtgggacaa gctggcgcgc tgggccgtca
     2221 tgcaccgcgt gcactccccc aacgtgcgct ggctggtgca ggtgccccgc ctctttgatg
     2281 tgtaccgtac caagggccag ctggccaact tccaggagat gctggagaac atcttcctgc
     2341 cactgttcga ggccactgtg caccctgcca gccacccgga actgcatctc ttcttagagc
     2401 acgtggatgg ttttgacagc gtggatgatg agtccaagcc tgaaaaccat gtcttcaacc
     2461 tggagagccc cctgcctgag gcgtgggtgg aggaggacaa cccaccctat gcctactacc
     2521 tgtactacac ctttgccaac atggccatgt tgaaccacct gcgcaggcag aggggcttcc
     2581 acacgtttgt gctgaggcca cactgtgggg aggctgggcc catccaccac ctggtgtcag
     2641 ccttcatgct ggctgagaac atttcccacg ggctccttct gcgcaaggcc cccgtcctgc
     2701 agtacctgta ctacctggcc cagatcggca tcgccatgtc tccgctcagc aacaacagcc
     2761 tcttcctcag ctatcaccgg aatccgctac cggagtacct gtcccgcggc ctcatggtct
     2821 ccctgtccac tgatgatccc ttgcagttcc acttcaccaa ggagccgctg atggaggagt
     2881 acagcatcgc cacccaggtg tggaagctca gctcctgcga tatgtgtgag ctggcccgca
     2941 acagcgtgct catgagcggc ttctcgcaca aggtaaagag ccactggctg ggacccaact
     3001 ataccaagga aggccctgag gggaatgaca tccgccggac caatgtgcca gacatccgcg
     3061 tgggctaccg ctacgagacc ctgtgccagg agctggcgct catcacgcag gcagtccaga
     3121 gtgagatgct ggagaccatt ccagaggagg cgggtatcac catgagccca gggcctcaat
     3181 gagcctggtc catgaagtgc ccaccacatc gcagcacttt taccacgttt tgtcctcaga
     3241 ccccgcccat gctgtgtggt ctctgcatgt ctccattctt ctctgtctct gtcttgcatg
     3301 tctcctacca tgtcactgtc cctgggccac ccagtgaaag caaagcctgg gaatctgctc
     3361 attgttgttt gggctcaggt attgagcctg atggcccagg tattgagggc ctcccctgct
     3421 ggtggccctg tcctgggatc ctcagaagcc tgactgtcct atgggcttct ccagtgtcca
     3481 caggggcttg ggatggttgt ggggggctgg cccctctagc ctttccggtc cttcctgggc
     3541 aaatctaagc cttggccagg gccgaagttt aggcccctgt cttgttcatg tagccgaggg
     3601 gcaggcgggg gacctctaca cctctgctgt gggcacgggg ctgctgaggg tctgtggaac
     3661 tccagcagct ctgcactggg tagagctggg cctagagctc agtcacaggc ctgggcttcc
     3721 tggcctgagt gggtagacgc aggcggcaga ggtgctggac cacatctccg ccaagtcact
     3781 gcccagcagc cttctccgtc ctgtccccag cccacgtgct ccttgggtgt cagcttcctg
     3841 tgcctctgtg ggagagggca gctgccttgt gttatgtctg gggccacagt tgctgcaaag
     3901 tcctggatct gccactcaac cccgggagtg gtgttcccag tgtggctccc agagctttga
     3961 ccagattgtg atcccagctg gcccctatgt tgtgttctgg actgaggcct ttgctgtgaa
     4021 ctgcagtgtt tcatacgaac catctttcct agtgcatgag aaataaagat tatttaagta
     4081 a
//
