LOCUS       NM_015274               5129 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mannosidase alpha class 2B member 2 (MAN2B2),
            transcript variant 1, mRNA.
ACCESSION   NM_015274 XM_052620
VERSION     NM_015274.3
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 5129)
  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   2  (bases 1 to 5129)
  AUTHORS   Verheijen,J., Wong,S.Y., Rowe,J.H., Raymond,K., Stoddard,J.,
            Delmonte,O.M., Bosticardo,M., Dobbs,K., Niemela,J., Calzoni,E.,
            Pai,S.Y., Choi,U., Yamazaki,Y., Comeau,A.M., Janssen,E.,
            Henderson,L., Hazen,M., Berry,G., Rosenzweig,S.D., Aldhekri,H.H.,
            He,M., Notarangelo,L.D. and Morava,E.
  TITLE     Defining a new immune deficiency syndrome: MAN2B2-CDG
  JOURNAL   J Allergy Clin Immunol 145 (3), 1008-1011 (2020)
   PUBMED   31775018
REFERENCE   3  (bases 1 to 5129)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 5129)
  AUTHORS   Venkatesan,M., Kuntz,D.A. and Rose,D.R.
  TITLE     Human lysosomal alpha-mannosidases exhibit different inhibition and
            metal binding properties
  JOURNAL   Protein Sci 18 (11), 2242-2251 (2009)
   PUBMED   19722277
  REMARK    GeneRIF: Expressed MAN2B1 and MAN2B2 in Drosophila S2 cells and
            functionally characterized them. MAN2B1 and MAN2B2 were
            significantly inhibited by the class II alpha-mannosidase
            inhibitors, swainsonine and mannostatin A.
REFERENCE   5  (bases 1 to 5129)
  AUTHORS   Park,C., Meng,L., Stanton,L.H., Collins,R.E., Mast,S.W., Yi,X.,
            Strachan,H. and Moremen,K.W.
  TITLE     Characterization of a human core-specific lysosomal
            {alpha}1,6-mannosidase involved in N-glycan catabolism
  JOURNAL   J Biol Chem 280 (44), 37204-37216 (2005)
   PUBMED   16115860
REFERENCE   6  (bases 1 to 5129)
  AUTHORS   Jin,Y.Z., Dacheux,F., Dacheux,J.L., Bannai,S., Sugita,Y. and
            Okamura,N.
  TITLE     Purification and properties of major alpha-D-mannosidase in the
            luminal fluid of porcine epididymis
  JOURNAL   Biochim Biophys Acta 1432 (2), 382-392 (1999)
   PUBMED   10407159
REFERENCE   7  (bases 1 to 5129)
  AUTHORS   Hiramoto,S., Tamba,M., Kiuchi,S., Jin,Y.Z., Bannai,S., Sugita,Y.,
            Dacheux,F., Dacheux,J.L., Yoshida,M. and Okamura,N.
  TITLE     Stage-specific expression of a mouse homologue of the porcine
            135kDa alpha-D-mannosidase (MAN2B2) in type A spermatogonia
  JOURNAL   Biochem Biophys Res Commun 241 (2), 439-445 (1997)
   PUBMED   9425289
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093323.3.
            
            On May 17, 2019 this sequence version replaced NM_015274.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.58648.1,
                                           SRR1660805.30291.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285599.8/ ENSP00000285599.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AC093323.3         42112-42271
            161-307             AC093323.3         43501-43647
            308-413             AC093323.3         45316-45421
            414-586             AC093323.3         53919-54091
            587-702             AC093323.3         55968-56083
            703-880             AC093323.3         60096-60273
            881-1079            AC093323.3         61457-61655
            1080-1270           AC093323.3         64036-64226
            1271-1427           AC093323.3         65121-65277
            1428-1561           AC093323.3         67546-67679
            1562-1836           AC093323.3         71978-72252
            1837-2028           AC093323.3         76030-76221
            2029-2281           AC093323.3         76721-76973
            2282-2392           AC093323.3         77803-77913
            2393-2585           AC093323.3         78009-78201
            2586-2723           AC093323.3         81141-81278
            2724-2836           AC093323.3         84303-84415
            2837-2954           AC093323.3         86850-86967
            2955-5129           AC093323.3         88111-90285
FEATURES             Location/Qualifiers
     source          1..5129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..5129
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /note="mannosidase alpha class 2B member 2"
                     /db_xref="GeneID:23324"
                     /db_xref="HGNC:HGNC:29623"
                     /db_xref="MIM:618899"
     exon            1..160
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..3052
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /EC_number="3.2.1.24"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; core-specific lysosomal alpha-1,6-Mannosidase;
                     epididymis-specific alpha-mannosidase; epididymis
                     secretory sperm binding protein; alpha-1,6-mannosidase"
                     /codon_start=1
                     /product="epididymis-specific alpha-mannosidase isoform 1
                     precursor"
                     /protein_id="NP_056089.1"
                     /db_xref="CCDS:CCDS33951.1"
                     /db_xref="GeneID:23324"
                     /db_xref="HGNC:HGNC:29623"
                     /db_xref="MIM:618899"
                     /translation="MGQLCWLPLLAPLLLLRPPGVQSAGPIRAFVVPHSHMDVGWVYT
                     VQESMRAYAANVYTSVVEELARGQQRRFIAVEQEFFRLWWDGVASDQQKYQVRQLLEE
                     GRLEFVIGGQVMHDEAVTHLDDQILQLTEGHGFLYETFGIRPQFSWHVDPFGASATTP
                     TLFALAGFNAHLGSRIDYDLKAAMQEARGLQFVWRGSPSLSERQEIFTHIMDQYSYCT
                     PSHIPFSNRSGFYWNGVAVFPKPPQDGVYPNMSEPVTPANINLYAEALVANVKQRAAW
                     FRTPHVLWPWGCDKQFFNASVQFANMDPLLDHINSHAAELGVSVQYATLGDYFRALHA
                     LNVTWRVRDHHDFLPYSTEPFQAWTGFYTSRSSLKGLARRASALLYAGESMFTRYLWP
                     APRGHLDPTWALQQLQQLRWAVSEVQHHDAITGTESPKVRDMYATHLASGMLGMRKLM
                     ASIVLDELQPQAPMAASSDAGPAGHFASVYNPLAWTVTTIVTLTVGFPGVRVTDEAGH
                     PVPSQIQNSTETPSAYDLLILTTIPGLSYRHYNIRPTAGAQEGTQEPAATVASTLQFG
                     RRLRRRTSHAGRYLVPVANDCYIVLLDQDTNLMHSIWERQSNRTVRVTQEFLEYHVNG
                     DVKQGPISDNYLFTPGKAAVPAWEAVEMEIVAGQLVTEIRQYFYRNMTAQNYTYAIRS
                     RLTHVPQGHDGELLCHRIEQEYQAGPLELNREAVLRTSTNLNSQQVIYSDNNGYQMQR
                     RPYVSYVNNSIARNYYPMVQSAFMEDGKSRLVLLSERAHGISSQGNGQVEVMLHRRLW
                     NNFDWDLGYNLTLNDTSVVHPVLWLLLGSWSLTTALRQRSALALQHRPVVLFGDLAGT
                     APKLPGPQQQEAVTLPPNLHLQILSIPGWRYSSNHTEHSQNLRKGHRGEAQADLRRVL
                     LRLYHLYEVGEDPVLSQPVTVNLEAVLQALGSVVAVEERSLTGTWDLSMLHRWSWRTG
                     PGRHRGDTTSPSRPPGGPIITVHPKEIRTFFIHFQQQ"
     exon            161..307
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            308..413
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            414..586
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            587..702
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            703..880
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1079
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1270
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1427
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1561
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1836
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..2028
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2029..2281
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2282..2392
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2393..2585
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2586..2723
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2724..2836
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2837..2954
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            2955..5129
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4149..4154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /note="hexamer: ATTAAA"
     polyA_site      4170
                     /gene="MAN2B2"
                     /gene_synonym="EpMAN"
                     /note="major polyA site"
ORIGIN      
        1 accttcccgg cctgccgcag ggatggggca gctgtgctgg ctgccgctgc tggcaccgct
       61 cctgttgctg cgaccgccag gggtccagtc cgccggcccc atccgggcct tcgtggtgcc
      121 ccacagccac atggacgtgg gctgggtcta cactgtgcag gaaagcatgc gggcgtacgc
      181 cgccaatgtc tacacctcag tggtggaaga gctggcccgc ggccagcagc gccggttcat
      241 cgctgtggag caggagtttt tccggctgtg gtgggatggc gtcgcctcgg accagcagaa
      301 ataccaggtc cgccagctcc tggaggaagg acgcctggaa tttgtcatcg gaggccaggt
      361 catgcatgac gaggctgtga cgcaccttga tgaccagatc ctgcagctca cagaaggaca
      421 cgggtttctc tatgaaacat ttgggatccg gccacagttc tcctggcacg ttgacccgtt
      481 tggcgcctct gccacgacgc ccaccctatt tgcgctggcg ggcttcaatg cccacctcgg
      541 ctcccggatc gactacgacc tgaaggcagc catgcaggag gcccgggggc tgcagttcgt
      601 gtggcgaggg tccccatccc tctcagagcg gcaggaaatc ttcacgcaca tcatggacca
      661 gtacagctac tgcaccccgt cccacatccc tttctccaac aggtcaggat tttactggaa
      721 tggcgtggct gtcttcccca agcctcccca agatggggtg taccccaaca tgagtgagcc
      781 tgtcacccca gccaacatca acctctatgc cgaggccctg gtggccaacg tgaagcagag
      841 ggccgcctgg ttccggacac cgcacgtcct ctggccctgg ggatgtgaca agcagttctt
      901 caatgcctcg gtgcagtttg ccaacatgga cccgctgctg gaccacatca acagccatgc
      961 tgccgagctc ggtgtctcgg tgcagtatgc cacgctgggc gactacttcc gtgccctgca
     1021 cgctctcaat gtcacctggc gtgtccgcga ccaccacgac ttcctgccct attccacaga
     1081 accattccag gcctggacgg gcttctacac gtcccgcagc tcactgaagg ggctggcccg
     1141 gcgagccagc gccttgttgt atgccgggga gtccatgttc acacgctacc tgtggccggc
     1201 cccccgtggg catctggacc ccacctgggc cctgcagcag ctccagcagc ttcgctgggc
     1261 cgtctccgag gtccagcacc atgatgccat cactgggact gagtccccca aggtgagaga
     1321 catgtacgca acgcacctgg cctcggggat gctgggcatg cgcaagctga tggcctccat
     1381 cgtcctagat gagctccagc cccaggcacc catggcggcc agctccgatg caggacctgc
     1441 aggacatttt gcctcggtct acaacccgct ggcctggacg gtcaccacca tcgtcaccct
     1501 gactgttggt ttccctggag tccgcgtcac agatgaggcg ggccacccag tgccctcgca
     1561 gatccagaac tcaacagaga ccccatctgc gtatgacctg cttattctga ccacaatccc
     1621 aggcctcagt taccggcact acaacatcag acccactgca ggggcccaag agggcaccca
     1681 ggagccggct gccactgtgg cgagcaccct tcaatttggc cgcaggctga ggagacgcac
     1741 cagccatgcg ggcaggtact tggtgcctgt ggcaaacgac tgctacattg tgctgctcga
     1801 ccaggatacc aacctgatgc acagcatctg ggagagacag agtaaccgaa cggtgcgcgt
     1861 gacccaggaa ttcctggagt accacgtcaa cggggatgtg aaacagggcc ccatttccga
     1921 taactacctg ttcacaccgg gcaaggccgc ggtgcctgcg tgggaagctg tggaaatgga
     1981 gattgtggcg ggacagcttg tgactgagat ccggcagtac ttctacagga acatgacagc
     2041 acagaattac acgtatgcaa tccgctcccg gctcacccat gtgccgcagg gccatgacgg
     2101 ggagctgctc tgccaccgga tagagcagga gtaccaagcc ggccccctgg agctgaaccg
     2161 tgaggctgtc ctgaggacca gcaccaacct aaacagccag caggtcatct actcagacaa
     2221 caacggctac cagatgcagc ggaggcccta cgtttcctat gtgaacaaca gcatcgcccg
     2281 gaattactac cccatggttc agtcggcctt catggaggat ggcaaaagca ggcttgtgtt
     2341 gctgtcggag cgggcacatg gcatctccag ccaagggaat gggcaggtgg aggtcatgct
     2401 ccaccggcgg ctgtggaaca acttcgactg ggacctgggc tacaacctca cgctgaacga
     2461 cacctcagtc gtccacccag tgctctggct tctgctggga tcctggtccc tcaccactgc
     2521 cctgcgccag aggagcgcac tggcgctgca gcacaggccc gtggtgctgt tcggagacct
     2581 cgctgggact gcgccgaagc tcccaggacc ccagcagcaa gaggccgtga cgctgccccc
     2641 gaatcttcac ctgcagatcc tgagcatccc tggctggcgc tacagctcca accacacgga
     2701 gcactctcag aatctccgga aaggccatcg aggggaagcc caggctgacc tccgccgtgt
     2761 cctgctgcgg ctctaccacc tatatgaagt gggcgaggac ccagtcctgt ctcagccagt
     2821 gacagtgaat ctggaggctg tgctgcaggc gctggggtcc gtggtggcag tggaggagcg
     2881 ctcgctcaca gggacctggg atttgagcat gctgcaccgc tggagctgga ggacggggcc
     2941 tggccgccac agaggtgaca ccacctctcc ctcgaggcca ccaggaggcc ccatcatcac
     3001 cgtccaccca aaggaaatcc ggacgttctt tattcacttt caacagcagt gagccctggg
     3061 cagatgcccc ggccccaggg cttcccccag gaactccatg taacagaaca gacccaggac
     3121 agggaaaagc agtgcggagg gatgggactg gggagtcagc tgctcatctg caggctaatg
     3181 gcaggaaatg gtcatatttg gggtttttcc ctaatttttt taaacaaaaa ttacattaca
     3241 agatccaggt tcttcccccc cacactcaat caagccagcc ctctcctctt ctgtcacgta
     3301 aaggatattt ggcacactca tgcgtcattc attcacaaaa cacaaaccca ggactttctg
     3361 cctaaggcag agcacaagac tcacagcagc accgaagcgc atctgccgtc cgggccctgc
     3421 caggcttgcc aggctgccag tggtaactgt ggacctactg cgtgccacgt gttttcatag
     3481 actcatccca tgctggcaac agccctgcaa ggggcttggc tctgccacag ggcaggagag
     3541 gaagttgtag cgcctagcga gagttccagc cccagacgcc cacctgtgcc tcagggcacc
     3601 gcctgccgag cagagaaggc acagcagccg tcagagtcca tgagaggtga aaccacacag
     3661 cagggatgtc caatatcaga actattaata tcaataaaag tataaccttc ccaggtctat
     3721 gcccaagaga attgaaaaca tccatccaca caatacctgt gctcccgcgt tcatagcagc
     3781 attactcaaa agtcaaacgg tagcaacaac ccaaatgtcc atccacagat gaattaagac
     3841 atgaagtgtg ttctgtccat acaatggaat attatttggc cataaaaagg aaggaaattc
     3901 tgacgcatgc cacagcctga gtgaatccta caaatattac gctaagtgaa agaagccaat
     3961 cacgagttta tgtgaaatgt ccagaatagg caaatctgtg tatcagagac aaagcacatt
     4021 ggtggttgcc aggtactgga ggaagagaga agaggcatga cagctaacag ggacgggctt
     4081 tctttggaag atgatgaaat tgtggaatga tggttgcaca actttgtgaa tatactagaa
     4141 accaatgaat taaaaacttt ggaagatgaa ttttatggtc tgtgaattat atctcaattt
     4201 taaaactttt tttttttttt cccgagacag agtctcactc tgtcgcccag gctggagtgc
     4261 agtgtcaaga tctcagctca ctgcgacctg cacctcctgg gttcaagcaa ttctccagcc
     4321 tctgcctccc gagtagctgc tactagagat gcaccactgc gtcagctaat ttttgtattt
     4381 ttagtagaga cggggattca ccatgttggc caggctgatc tggaactcct gacctcaggt
     4441 gatctgcctg ccccggcctc ccaaagtgcc aggattacag gcgtgagcca atgtgcccgg
     4501 cctaaaccgt tttaaagagt aaactgtaag atgtaggaaa ttatttggta ctctagggct
     4561 gaaggaaagt acccagaaag gaccagcttg gaaggagtca gacctctgga caacgtgcag
     4621 tttggccacc agacagcaaa gacagtctct ggtttggcca ggcaggagct gggctggagt
     4681 tgctgaccaa gcaataggcc acccctgtga ggtggggtca ggtgagcagc caccagaggc
     4741 atggatgtgc agtgggaggt tgaggcacaa ggagtgaggc aggagccctt tagagcatgt
     4801 gggctgcatg aggcttggtt tctgtgtcaa gaagactatg gaggctgggc agtggttcat
     4861 gccttaatcc cagcactttg ggaggccaaa gcaaccggat cactggtggt cagtagttca
     4921 agaccaggct ggccaacatg gtgaaacccc atctctacta aaaatacaaa gttaaccggg
     4981 tgtggtggtg tgcgcctgta gtcccagcta ctcgggaggc tgaggcagga gaatcaatca
     5041 cttgaacctg ggaggcggag gagacctccg cctctgcact ccagcctggg tgacaagagt
     5101 gagactccgt ctcaaaaaaa aaaaaaaaa
//
