LOCUS       NM_002361               2357 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens myelin associated glycoprotein (MAG), transcript
            variant 1, mRNA.
ACCESSION   NM_002361 XM_005258946
VERSION     NM_002361.4
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 2357)
  AUTHORS   Koper-Lenkiewicz,O.M., Milewska,A.J., Kaminska,J., Sawicki,K.,
            Chrzanowski,R., Zinczuk,J., Reszec,J., Tylicka,M., Matuszczak,E.,
            Matowicka-Karna,J., Mariak,Z., Mucha,M.W., Pawlak,R. and
            Dymicka-Piekarska,V.
  TITLE     Myelin-associated proteins are potential diagnostic markers in
            patients with primary brain tumour
  JOURNAL   Ann Med 53 (1), 1710-1721 (2021)
   PUBMED   34601991
  REMARK    GeneRIF: Myelin-associated proteins are potential diagnostic
            markers in patients with primary brain tumour.
REFERENCE   2  (bases 1 to 2357)
  AUTHORS   Zech,M., Brunet,T., Skorvanek,M., Blaschek,A., Vill,K., Hanker,B.,
            Huning,I., Han,V., Dosekova,P., Gdovinova,Z., Alhaddad,B.,
            Berutti,R., Strom,T.M., Ruzicka,E., Kamsteeg,E.J., van der
            Smagt,J.J., Wagner,M., Jech,R. and Winkelmann,J.
  TITLE     Recessive null-allele variants in MAG associated with spastic
            ataxia, nystagmus, neuropathy, and dystonia
  JOURNAL   Parkinsonism Relat Disord 77, 70-75 (2020)
   PUBMED   32629324
  REMARK    GeneRIF: Recessive null-allele variants in MAG associated with
            spastic ataxia, nystagmus, neuropathy, and dystonia.
REFERENCE   3  (bases 1 to 2357)
  AUTHORS   Pascual-Goni,E., Martin-Aguilar,L., Lleixa,C.,
            Martinez-Martinez,L., Simon-Talero,M.J., Diaz-Manera,J.,
            Cortes-Vicente,E., Rojas-Garcia,R., Moga,E., Juarez,C., Illa,I. and
            Querol,L.
  TITLE     Clinical and laboratory features of anti-MAG neuropathy without
            monoclonal gammopathy
  JOURNAL   Sci Rep 9 (1), 6155 (2019)
   PUBMED   30992531
  REMARK    GeneRIF: Clinical and laboratory features of anti-MAG neuropathy
            without monoclonal gammopathy.
            Erratum:[Sci Rep. 2021 Feb 10;11(1):3902. doi:
            10.1038/s41598-021-81911-3.. PMID: 33568698]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2357)
  AUTHORS   Jiang,L., Cheng,Y., Jiang,H., Xu,J., Lu,J., Shen,Z., Lu,Y., Liu,F.,
            Li,L. and Xu,X.
  TITLE     Association between abnormal serum myelin-specific protein levels
            and white matter integrity in first-episode and drug-naive patients
            with major depressive disorder
  JOURNAL   J Affect Disord 232, 61-68 (2018)
   PUBMED   29477585
  REMARK    GeneRIF: we observed two-way correlations between the MOG and MAG
            levels and the fractional anisotropy and mean diffusivity values in
            the white matter of the left middle frontal lobe, right inferior
            parietal lobe, and right supplementary motor area in major
            depressive disorder patients
REFERENCE   5  (bases 1 to 2357)
  AUTHORS   Lossos,A., Elazar,N., Lerer,I., Schueler-Furman,O., Fellig,Y.,
            Glick,B., Zimmerman,B.E., Azulay,H., Dotan,S., Goldberg,S.,
            Gomori,J.M., Ponger,P., Newman,J.P., Marreed,H., Steck,A.J.,
            Schaeren-Wiemers,N., Mor,N., Harel,M., Geiger,T.,
            Eshed-Eisenbach,Y., Meiner,V. and Peles,E.
  TITLE     Myelin-associated glycoprotein gene mutation causes
            Pelizaeus-Merzbacher disease-like disorder
  JOURNAL   Brain 138 (Pt 9), 2521-2536 (2015)
   PUBMED   26179919
  REMARK    GeneRIF: This study identify involvement of myelin-associated
            glycoprotein in this family with a disorder affecting the central
            and peripheral nervous system, and suggest that loss of the protein
            function is responsible for the unique clinical phenotype
REFERENCE   6  (bases 1 to 2357)
  AUTHORS   Spagnol,G., Williams,M., Srinivasan,J., Golier,J., Bauer,D.,
            Lebo,R.V. and Latov,N.
  TITLE     Molecular cloning of human myelin-associated glycoprotein
  JOURNAL   J Neurosci Res 24 (2), 137-142 (1989)
   PUBMED   2479762
REFERENCE   7  (bases 1 to 2357)
  AUTHORS   Sato,S., Fujita,N., Kurihara,T., Kuwano,R., Sakimura,K.,
            Takahashi,Y. and Miyatake,T.
  TITLE     cDNA cloning and amino acid sequence for human myelin-associated
            glycoprotein
  JOURNAL   Biochem Biophys Res Commun 163 (3), 1473-1480 (1989)
   PUBMED   2476987
REFERENCE   8  (bases 1 to 2357)
  AUTHORS   Quarles,R.H.
  TITLE     Myelin-associated glycoprotein in demyelinating disorders
  JOURNAL   Crit Rev Neurobiol 5 (1), 1-28 (1989)
   PUBMED   2475262
  REMARK    Review article
REFERENCE   9  (bases 1 to 2357)
  AUTHORS   Barton,D.E., Arquint,M., Roder,J., Dunn,R. and Francke,U.
  TITLE     The myelin-associated glycoprotein gene: mapping to human
            chromosome 19 and mouse chromosome 7 and expression in quivering
            mice
  JOURNAL   Genomics 1 (2), 107-112 (1987)
   PUBMED   2447011
REFERENCE   10 (bases 1 to 2357)
  AUTHORS   Fahrig,T., Landa,C., Pesheva,P., Kuhn,K. and Schachner,M.
  TITLE     Characterization of binding properties of the myelin-associated
            glycoprotein to extracellular matrix constituents
  JOURNAL   EMBO J 6 (10), 2875-2883 (1987)
   PUBMED   2446864
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK223562.1 and BC093045.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002361.3.
            
            Summary: The protein encoded by this gene is a type I membrane
            protein and member of the immunoglobulin superfamily. It is thought
            to be involved in the process of myelination. It is a lectin that
            binds to sialylated glycoconjugates and mediates certain
            myelin-neuron cell-cell interactions. Three alternatively spliced
            transcripts encoding different isoforms have been described for
            this gene. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) lacks exon 11 and has the stop
            codon in exon 12, as compared to variant 2. Isoform a is 44 aa
            longer and contains a different carboxy terminus when compared to
            isoform b.
            
            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 :: AK222649.1, AK223562.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392213.8/ ENSP00000376048.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1936              AK223562.1         37-1972
            1937-2357           BC093045.1         2009-2429
FEATURES             Location/Qualifiers
     source          1..2357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..2357
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /note="myelin associated glycoprotein"
                     /db_xref="GeneID:4099"
                     /db_xref="HGNC:HGNC:6783"
                     /db_xref="MIM:159460"
     exon            1..44
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            45..100
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            101..169
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..2004
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; sialic acid binding Ig-like lectin 4A; sialic
                     acid-binding immunoglobulin-like lectin 4A"
                     /codon_start=1
                     /product="myelin-associated glycoprotein isoform a
                     precursor"
                     /protein_id="NP_002352.1"
                     /db_xref="CCDS:CCDS12455.1"
                     /db_xref="GeneID:4099"
                     /db_xref="HGNC:HGNC:6783"
                     /db_xref="MIM:159460"
                     /translation="MIFLTALPLFWIMISASRGGHWGAWMPSSISAFEGTCVSIPCRF
                     DFPDELRPAVVHGVWYFNSPYPKNYPPVVFKSRTQVVHESFQGRSRLLGDLGLRNCTL
                     LLSNVSPELGGKYYFRGDLGGYNQYTFSEHSVLDIVNTPNIVVPPEVVAGTEVEVSCM
                     VPDNCPELRPELSWLGHEGLGEPAVLGRLREDEGTWVQVSLLHFVPTREANGHRLGCQ
                     ASFPNTTLQFEGYASMDVKYPPVIVEMNSSVEAIEGSHVSLLCGADSNPPPLLTWMRD
                     GTVLREAVAESLLLELEEVTPAEDGVYACLAENAYGQDNRTVGLSVMYAPWKPTVNGT
                     MVAVEGETVSILCSTQSNPDPILTIFKEKQILSTVIYESELQLELPAVSPEDDGEYWC
                     VAENQYGQRATAFNLSVEFAPVLLLESHCAAARDTVQCLCVVKSNPEPSVAFELPSRN
                     VTVNESEREFVYSERSGLVLTSILTLRGQAQAPPRVICTARNLYGAKSLELPFQGAHR
                     LMWAKIGPVGAVVAFAILIAIVCYITQTRRKKNVTESPSFSAGDNPPVLFSSDFRISG
                     APEKYESERRLGSERRLLGLRGEPPELDLSYSHSDLGKRPTKDSYTLTEELAEYAEIR
                     VK"
     exon            170..538
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            539..835
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            836..1093
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1354
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1642
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1739
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1839
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     exon            1840..2357
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2337..2342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="MAG"
                     /gene_synonym="GMA; S-MAG; SIGLEC-4A; SIGLEC4; SIGLEC4A;
                     SPG75"
                     /note="major polyA site"
ORIGIN      
        1 gagctgggct ggcggagcag aggtgcagaa gcaactgagt ccaagttgtc tggcggcttc
       61 aggtggaccc agaagacgtc cccaactcag ggagattcag cgatcactca ctcgctgtac
      121 agaatgatat tcctcacggc actgcctctg ttctggatta tgatttcagc ctcccgaggg
      181 ggtcactggg gtgcctggat gccctcgtcc atctcggcct tcgaaggcac gtgcgtctcc
      241 atcccctgcc gctttgactt cccggatgag ctgcggcccg ctgtggtgca tggtgtctgg
      301 tacttcaata gcccctaccc caagaactac cccccggtgg tcttcaagtc gcgcacccaa
      361 gtagtccacg agagcttcca gggccgcagc cgcctcctgg gggacctggg cctgcgaaac
      421 tgcaccctcc tgctcagcaa cgtcagcccc gagctgggcg ggaagtacta cttccgtggg
      481 gacctgggcg gctacaacca gtacaccttc tcagagcaca gcgtcctgga tatcgtcaac
      541 acccccaaca tcgtggtgcc cccagaggtg gtggcaggca cggaggtgga ggtcagctgc
      601 atggtgccgg acaactgccc agagctgcgc cctgagctga gctggctggg ccacgagggg
      661 ctgggggagc ccgctgtgct gggccggctg cgggaggacg agggcacctg ggtgcaggtg
      721 tcactgctgc acttcgtgcc cacgagggag gccaacggcc acaggctggg ctgccaggcc
      781 tccttcccca acaccaccct gcagttcgag ggctacgcca gcatggacgt caagtacccc
      841 ccggtgattg tggagatgaa ctcctcggtg gaggccatcg agggctccca cgtgagcctg
      901 ctctgtgggg ctgacagcaa ccccccgccg ctgctgacct ggatgcggga cgggacagtc
      961 ctccgggagg cggtggccga gagcctgctc ctggagctgg aggaggtgac ccccgccgaa
     1021 gacggcgtct atgcctgcct ggccgagaat gcctatggcc aggacaaccg caccgtgggg
     1081 ctcagtgtca tgtatgcacc ctggaagcca acagtgaacg ggacaatggt ggccgtagag
     1141 ggggagacgg tctctatctt gtgctccaca cagagcaacc cggaccctat tctcaccatc
     1201 ttcaaggaga agcagatcct gtccacggtc atctacgaga gcgagctgca gctggagctg
     1261 ccggccgtgt cacccgagga tgatggagag tactggtgtg tggctgagaa ccagtatggc
     1321 cagagggcca ccgccttcaa cctgtctgtg gagttcgccc ctgtgctcct cctggagtcc
     1381 cactgcgcgg cagcccgaga cacggtgcag tgcctgtgcg tggtgaagtc caacccggag
     1441 ccgtccgtgg cctttgagct gccatcgcgc aatgtgaccg tgaacgagag cgagcgggag
     1501 ttcgtgtact cggagcgcag cggcctcgtg ctcaccagca tcctcacgct gcgggggcag
     1561 gcccaggccc cgccccgcgt catctgcacc gcgaggaacc tctatggcgc caagagcctg
     1621 gagctgccct tccagggagc ccatcgactg atgtgggcca agatcgggcc tgtgggcgcc
     1681 gtggtcgcct ttgccatcct gattgccatc gtctgctaca ttacccagac acgcaggaaa
     1741 aagaacgtga cagagagccc cagcttctcg gcaggggaca accctcccgt cctgttcagc
     1801 agcgacttcc gcatctctgg ggcaccagag aagtacgaga gcgagaggcg cctgggatct
     1861 gagaggaggc tgctgggcct tcggggtgag cccccagagc tggacctgag ctattctcac
     1921 tcggacctgg ggaaacggcc caccaaggac agctacacgc tgacggagga gctagctgag
     1981 tatgctgaaa tccgggtcaa gtgaaggagc tgggggcagc ctgcgtggct gacccccctc
     2041 aggaccctcg ctggccccca ctggctgtgg gctcccttcc tcccaaaagt atcgggggct
     2101 ggggcaggag gggagtgagg caggtgacag tgaggtcctg ggggcctgac ctccccctcc
     2161 ttcccagctg cccctccctg ccagcacccc cacgccctca ttacggctcc tctctaacct
     2221 cctttaccct catctgtctg gaggggagct ctgtctgtcc gtgttattta ttgctacttc
     2281 ctgcctggtc tcctgccccc acacctggcc ctggggcctg tacaaaaggg acatgaaata
     2341 aatgccccaa agccaaa
//
