LOCUS       NM_139156               3728 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens adenosine monophosphate deaminase 2 (AMPD2),
            transcript variant 2, mRNA.
ACCESSION   NM_139156
VERSION     NM_139156.4
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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 3728)
  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 DA558264.1 and BC007711.2.
            
            On Aug 13, 2020 this sequence version replaced NM_139156.3.
            
            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 (2) lacks the exon containing the
            translational start site compared to variant 4. The resulting
            isoform (2) has a shorter and 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 :: AK025706.1, BC075844.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                DA558264.1         25-75
            52-3728             BC007711.2         1-3677
FEATURES             Location/Qualifiers
     source          1..3728
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3728
                     /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"
     CDS             433..2829
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /EC_number="3.5.4.6"
                     /note="isoform 2 is encoded by transcript variant 2;
                     adenosine monophosphate deaminase 2 (isoform L); AMP
                     deaminase 2"
                     /codon_start=1
                     /product="AMP deaminase 2 isoform 2"
                     /protein_id="NP_631895.1"
                     /db_xref="CCDS:CCDS804.1"
                     /db_xref="GeneID:271"
                     /db_xref="HGNC:HGNC:469"
                     /db_xref="MIM:102771"
                     /translation="MASEARGGLGAPPLQSARSLPGPAPCLKHFPLDLRTSMDGKCKE
                     IAEELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLEPDILLRAKQ
                     DFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPFTDLLDAA
                     KSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSADAPVHP
                     PALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQEFVA
                     DVNVLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRKV
                     DTHIHASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTAYDLSVD
                     TLDVHADRNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEVMSDLEE
                     SKYQNAELRLSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLAN
                     FQEMLENIFLPLFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEA
                     WVEEDNPPYAYYLYYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVSAFMLAE
                     NISHGLLLRKAPVLQYLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGLMVSLST
                     DDPLQFHFTKEPLMEEYSIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYT
                     KEGPEGNDIRRTNVPDIRVGYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ
                     "
     exon            443..573
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            574..704
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            705..773
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            774..882
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1069
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1211
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1301
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1431
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1626
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1758
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1759..1922
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2049
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2050..2213
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2334
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2335..2508
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2509..2619
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     exon            2620..3728
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3709..3714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD2"
                     /gene_synonym="AMPD; PCH9; SPG63"
                     /note="hexamer: AATAAA"
     polyA_site      3728
                     /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 agaggctcgg ggtggtctgg gggcccctcc gctgcagtct
      481 gcccgatccc tgccgggccc cgccccctgc ctcaagcact tcccgctcga cctgcgcacg
      541 tctatggatg gcaaatgcaa ggagatcgcc gaggagctgt tcacccgctc actggctgag
      601 agcgagctcc gtagtgcccc gtatgagttc cccgaggaga gccccattga acagctggag
      661 gagcggcggc agcggctgga gcggcagatc agccaggatg tcaagctgga gccagacatc
      721 ctgcttcggg ccaagcaaga tttcctgaag acggacagtg actcggacct acagctctac
      781 aaggaacagg gtgaggggca gggtgaccgg agcctgcggg agcgtgatgt gctggaacgg
      841 gagtttcagc gggtcaccat ctctggggag gagaagtgtg gggtgccgtt cacagacctg
      901 ctggatgcag ccaagagtgt ggtgcgggcg ctcttcatcc gggagaagta catggccctg
      961 tccctgcaga gcttctgccc caccacccgc cgctacctgc agcagctggc tgaaaagcct
     1021 ctggagaccc ggacctatga acagggcccc gacacccctg tgtctgctga tgccccggtg
     1081 cacccccctg cgctggagca gcacccgtat gagcactgtg agccaagcac catgcctggg
     1141 gacctgggct tgggtctgcg catggtgcgg ggtgtggtgc acgtctacac ccgcagggaa
     1201 cccgacgagc attgctcaga ggtggagctg ccataccctg acctgcagga atttgtggct
     1261 gacgtcaatg tgctgatggc cctgattatc aatggcccca taaagtcatt ctgctaccgc
     1321 cggctgcagt acctgagctc caagttccag atgcatgtgc tactcaatga gatgaaggag
     1381 ctggccgccc agaagaaagt gccacaccga gatttctaca acatccgcaa ggtggacacc
     1441 cacatccatg cctcgtcctg catgaaccag aagcatctgc tgcgcttcat caagcgggca
     1501 atgaagcggc acctggagga gatcgtgcac gtggagcagg gccgtgaaca gacgctgcgg
     1561 gaggtctttg agagcatgaa tctcacggcc tacgacctga gtgtggacac gctggatgtg
     1621 catgcggaca ggaacacttt ccatcgcttt gacaagttta atgccaaata caaccctatt
     1681 ggggagtccg tcctccgaga gatcttcatc aagacggaca acagggtatc tgggaagtac
     1741 tttgctcaca tcatcaagga ggtgatgtca gacctggagg agagcaaata ccagaatgca
     1801 gagctgcggc tctccattta cgggcgctcg agggatgagt gggacaagct ggcgcgctgg
     1861 gccgtcatgc accgcgtgca ctcccccaac gtgcgctggc tggtgcaggt gccccgcctc
     1921 tttgatgtgt accgtaccaa gggccagctg gccaacttcc aggagatgct ggagaacatc
     1981 ttcctgccac tgttcgaggc cactgtgcac cctgccagcc acccggaact gcatctcttc
     2041 ttagagcacg tggatggttt tgacagcgtg gatgatgagt ccaagcctga aaaccatgtc
     2101 ttcaacctgg agagccccct gcctgaggcg tgggtggagg aggacaaccc accctatgcc
     2161 tactacctgt actacacctt tgccaacatg gccatgttga accacctgcg caggcagagg
     2221 ggcttccaca cgtttgtgct gaggccacac tgtggggagg ctgggcccat ccaccacctg
     2281 gtgtcagcct tcatgctggc tgagaacatt tcccacgggc tccttctgcg caaggccccc
     2341 gtcctgcagt acctgtacta cctggcccag atcggcatcg ccatgtctcc gctcagcaac
     2401 aacagcctct tcctcagcta tcaccggaat ccgctaccgg agtacctgtc ccgcggcctc
     2461 atggtctccc tgtccactga tgatcccttg cagttccact tcaccaagga gccgctgatg
     2521 gaggagtaca gcatcgccac ccaggtgtgg aagctcagct cctgcgatat gtgtgagctg
     2581 gcccgcaaca gcgtgctcat gagcggcttc tcgcacaagg taaagagcca ctggctggga
     2641 cccaactata ccaaggaagg ccctgagggg aatgacatcc gccggaccaa tgtgccagac
     2701 atccgcgtgg gctaccgcta cgagaccctg tgccaggagc tggcgctcat cacgcaggca
     2761 gtccagagtg agatgctgga gaccattcca gaggaggcgg gtatcaccat gagcccaggg
     2821 cctcaatgag cctggtccat gaagtgccca ccacatcgca gcacttttac cacgttttgt
     2881 cctcagaccc cgcccatgct gtgtggtctc tgcatgtctc cattcttctc tgtctctgtc
     2941 ttgcatgtct cctaccatgt cactgtccct gggccaccca gtgaaagcaa agcctgggaa
     3001 tctgctcatt gttgtttggg ctcaggtatt gagcctgatg gcccaggtat tgagggcctc
     3061 ccctgctggt ggccctgtcc tgggatcctc agaagcctga ctgtcctatg ggcttctcca
     3121 gtgtccacag gggcttggga tggttgtggg gggctggccc ctctagcctt tccggtcctt
     3181 cctgggcaaa tctaagcctt ggccagggcc gaagtttagg cccctgtctt gttcatgtag
     3241 ccgaggggca ggcgggggac ctctacacct ctgctgtggg cacggggctg ctgagggtct
     3301 gtggaactcc agcagctctg cactgggtag agctgggcct agagctcagt cacaggcctg
     3361 ggcttcctgg cctgagtggg tagacgcagg cggcagaggt gctggaccac atctccgcca
     3421 agtcactgcc cagcagcctt ctccgtcctg tccccagccc acgtgctcct tgggtgtcag
     3481 cttcctgtgc ctctgtggga gagggcagct gccttgtgtt atgtctgggg ccacagttgc
     3541 tgcaaagtcc tggatctgcc actcaacccc gggagtggtg ttcccagtgt ggctcccaga
     3601 gctttgacca gattgtgatc ccagctggcc cctatgttgt gttctggact gaggcctttg
     3661 ctgtgaactg cagtgtttca tacgaaccat ctttcctagt gcatgagaaa taaagattat
     3721 ttaagtaa
//
