LOCUS       NM_177433               2051 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens MAGE family member D2 (MAGED2), transcript variant 2,
            mRNA.
ACCESSION   NM_177433
VERSION     NM_177433.3
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 2051)
  AUTHORS   Yan,X., Hu,Y., Zhang,X., Gao,X., Zhao,Y., Peng,H., Ouyang,L. and
            Zhang,C.
  TITLE     Identification of a novel intronic mutation of MAGED2 gene in a
            Chinese family with antenatal Bartter syndrome
  JOURNAL   BMC Med Genomics 17 (1), 23 (2024)
   PUBMED   38238844
  REMARK    GeneRIF: Identification of a novel intronic mutation of MAGED2 gene
            in a Chinese family with antenatal Bartter syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2051)
  AUTHORS   Shi,X., Liu,C., Zheng,W., Cao,X., Li,W., Zhang,D., Zhu,J., Zhang,X.
            and Chen,Y.
  TITLE     Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the
            Therapeutic Targeting of Triple-Negative Breast Cancer
  JOURNAL   Mol Cell Proteomics 23 (1), 100703 (2024)
   PUBMED   38128647
  REMARK    GeneRIF: Proteomic Analysis Revealed the Potential Role of MAGE-D2
            in the Therapeutic Targeting of Triple-Negative Breast Cancer.
REFERENCE   3  (bases 1 to 2051)
  AUTHORS   Nasrah,S., Radi,A., Daberkow,J.K., Hummler,H., Weber,S.,
            Seaayfan,E. and Komhoff,M.
  TITLE     MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the
            cAMP/PKA Pathway
  JOURNAL   Int J Mol Sci 24 (17), 13433 (2023)
   PUBMED   37686237
  REMARK    GeneRIF: MAGED2 Depletion Promotes Stress-Induced Autophagy by
            Impairing the cAMP/PKA Pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2051)
  AUTHORS   Seaayfan,E., Nasrah,S., Quell,L., Radi,A., Kleim,M.,
            Schermuly,R.T., Weber,S., Laghmani,K. and Komhoff,M.
  TITLE     Reciprocal Regulation of MAGED2 and HIF-1alpha Augments Their
            Expression under Hypoxia: Role of cAMP and PKA Type II
  JOURNAL   Cells 11 (21), 3424 (2022)
   PUBMED   36359819
  REMARK    GeneRIF: Reciprocal Regulation of MAGED2 and HIF-1alpha Augments
            Their Expression under Hypoxia: Role of cAMP and PKA Type II.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2051)
  AUTHORS   Reusch,B., Bartram,M.P., Dafinger,C., Palacio-Escat,N., Wenzel,A.,
            Fenton,R.A., Saez-Rodriguez,J., Schermer,B., Benzing,T.,
            Altmuller,J., Beck,B.B. and Rinschen,M.M.
  TITLE     MAGED2 controls vasopressin-induced aquaporin-2 expression in
            collecting duct cells
  JOURNAL   J Proteomics 252, 104424 (2022)
   PUBMED   34775100
  REMARK    GeneRIF: MAGED2 controls vasopressin-induced aquaporin-2 expression
            in collecting duct cells.
REFERENCE   6  (bases 1 to 2051)
  AUTHORS   Harper,R., Xu,C., Di,P., Chen,Y., Privalsky,M. and Wu,R.
  TITLE     Identification of a novel MAGE D2 antisense RNA transcript in human
            tissues
  JOURNAL   Biochem Biophys Res Commun 324 (1), 199-204 (2004)
   PUBMED   15465002
  REMARK    GeneRIF: Results identified a cDNA clone, corresponding to MAGE D2
            mRNA, from primary human bronchial epithelial cells which exhibits
            increased expression in vitro after treatment with all-trans
            retinoic acid.
REFERENCE   7  (bases 1 to 2051)
  AUTHORS   Bertrand,M., Huijbers,I., Chomez,P. and De Backer,O.
  TITLE     Comparative expression analysis of the MAGED genes during
            embryogenesis and brain development
  JOURNAL   Dev Dyn 230 (2), 325-334 (2004)
   PUBMED   15162511
  REMARK    GeneRIF: Maged2 is mainly expressed in tissues of mesodermal origin
REFERENCE   8  (bases 1 to 2051)
  AUTHORS   Langnaese,K., Kloos,D.U., Wehnert,M., Seidel,B. and Wieacker,P.
  TITLE     Expression pattern and further characterization of human MAGED2 and
            identification of rodent orthologues
  JOURNAL   Cytogenet Cell Genet 94 (3-4), 233-240 (2001)
   PUBMED   11856887
  REMARK    GeneRIF: Expression pattern and further characterization of human
            MAGED2 and identification of rodent orthologues
REFERENCE   9  (bases 1 to 2051)
  AUTHORS   Kurt,R.A., Urba,W.J. and Schoof,D.D.
  TITLE     Isolation of genes overexpressed in freshly isolated breast cancer
            specimens
  JOURNAL   Breast Cancer Res Treat 59 (1), 41-48 (2000)
   PUBMED   10752678
REFERENCE   10 (bases 1 to 2051)
  AUTHORS   Lucas,S., Brasseur,F. and Boon,T.
  TITLE     A new MAGE gene with ubiquitous expression does not code for known
            MAGE antigens recognized by T cells
  JOURNAL   Cancer Res 59 (16), 4100-4103 (1999)
   PUBMED   10463614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB467873.1, BC000304.2 and
            BX647995.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_177433.2.
            
            Summary: This gene is a member of the MAGED gene family. The MAGED
            genes are clustered on chromosome Xp11. This gene is located in
            Xp11.2, a hot spot for X-linked intellectual disability (XLID).
            Mutations in this gene cause a form of transient antenatal
            Bartter's syndrome. This gene may also be involved in several types
            of cancer, including breast cancer and melanoma. The protein
            encoded by this gene is progressively recruited from the cytoplasm
            to the nucleoplasm during the interphase and after nucleolar stress
            and is thus thought to play a role in cell cycle regulation.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) represents the longest
            transcript. Variants 1, 2, and 3 encode the same protein.
            
            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 :: SRR3476690.817157.1,
                                           SRR3476690.943828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375068.6/ ENSP00000364209.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                DB467873.1         147-204
            59-2048             BC000304.2         59-2048
            2049-2051           BX647995.1         2132-2134
FEATURES             Location/Qualifiers
     source          1..2051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..2051
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /note="MAGE family member D2"
                     /db_xref="GeneID:10916"
                     /db_xref="HGNC:HGNC:16353"
                     /db_xref="MIM:300470"
     exon            1..58
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            59..132
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..1908
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /note="MAGE-D2 antigen; breast cancer-associated gene 1
                     protein; hepatocellular carcinoma-associated protein
                     JCL-1; melanoma antigen family D, 2; melanoma antigen
                     family D2"
                     /codon_start=1
                     /product="melanoma-associated antigen D2"
                     /protein_id="NP_803182.1"
                     /db_xref="CCDS:CCDS14362.1"
                     /db_xref="GeneID:10916"
                     /db_xref="HGNC:HGNC:16353"
                     /db_xref="MIM:300470"
                     /translation="MSDTSESGAGLTRFQAEASEKDSSSMMQTLLTVTQNVEVPETPK
                     ASKALEVSEDVKVSKASGVSKATEVSKTPEAREAPATQASSTTQLTDTQVLAAENKSL
                     AADTKKQNADPQAVTMPATETKKVSHVADTKVNTKAQETEAAPSQAPADEPEPESAAA
                     QSQENQDTRPKVKAKKARKVKHLDGEEDGSSDQSQASGTTGGRRVSKALMASMARRAS
                     RGPIAFWARRASRTRLAAWARRALLSLRSPKARRGKARRRAAKLQSSQEPEAPPPRDV
                     ALLQGRANDLVKYLLAKDQTKIPIKRSDMLKDIIKEYTDVYPEIIERAGYSLEKVFGI
                     QLKEIDKNDHLYILLSTLEPTDAGILGTTKDSPKLGLLMVLLSIIFMNGNRSSEAVIW
                     EVLRKLGLRPGIHHSLFGDVKKLITDEFVKQKYLDYARVPNSNPPEYEFFWGLRSYYE
                     TSKMKVLKFACKVQKKDPKEWAAQYREAMEADLKAAAEAAAEAKARAEIRARMGIGLG
                     SENAAGPCNWDEADIGPWAKARIQAGAEAKAKAQESGSASTGASTSTNNSASASASTS
                     GGFSAGASLTATLTFGLFAGLGGAGASTSGSSGACGFSYK"
     exon            133..624
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            625..933
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            934..997
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1077
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1172
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1252
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1295
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1358
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1473
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1916
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..2051
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /note="hexamer: ATTAAA"
     polyA_site      2051
                     /gene="MAGED2"
                     /gene_synonym="11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2"
                     /note="major polyA site"
ORIGIN      
        1 gagacttcga gagggactta gagaaggcag acgcatcccg aactcgctgg aggacaaggc
       61 tcagctcttg ccaggccaaa ttgagacatg tctgacacaa gcgagagtgg tgcaggtcta
      121 actcgcttcc aggctgaagc ttcagaaaag gacagtagct cgatgatgca gactctgttg
      181 acagtgaccc agaatgtgga ggtcccagag acaccgaagg cctcaaaggc actggaggtc
      241 tcagaggatg tgaaggtctc aaaagcctct ggggtctcaa aggccacaga ggtctcaaag
      301 accccagagg ctcgggaggc acctgccacc caggcctcat ctactactca gctgactgat
      361 acccaggttc tggcagctga aaacaagagt ctagcagctg acaccaagaa acagaatgct
      421 gacccgcagg ctgtgacaat gcctgccact gagaccaaaa aggtcagcca tgtggctgat
      481 acaaaggtca atacaaaggc tcaggagact gaggctgcac cctctcaggc cccagcagat
      541 gaacctgagc ctgagagtgc agctgcccag tctcaggaga atcaggatac tcggcccaag
      601 gtcaaagcca agaaagcccg aaaggtgaag catctggatg gggaagagga tggcagcagt
      661 gatcagagtc aggcttctgg aaccacaggt ggccgaaggg tctcaaaggc cctaatggcc
      721 tcaatggccc gcagggcttc aaggggtccc atagcctttt gggcccgcag ggcatcaagg
      781 actcggttgg ctgcttgggc ccggagagcc ttgctctccc tgagatcacc taaagcccgt
      841 aggggcaagg ctcgccgtag agctgccaag ctccagtcat cccaagagcc tgaagcacca
      901 ccacctcggg atgtggccct tttgcaaggg agggcaaatg atttggtgaa gtaccttttg
      961 gctaaagacc agacgaagat tcccatcaag cgctcggaca tgctgaagga catcatcaaa
     1021 gaatacactg atgtgtaccc cgaaatcatt gaacgagcag gctattcctt ggagaaggta
     1081 tttgggattc aattgaagga aattgataag aatgaccact tgtacattct tctcagcacc
     1141 ttagagccca ctgatgcagg catactggga acgactaagg actcacccaa gctgggtctg
     1201 ctcatggtgc ttcttagcat catcttcatg aatggaaatc ggtccagtga ggctgtcatc
     1261 tgggaggtgc tgcgcaagtt ggggctgcgc cctgggatac atcattcact ctttggggac
     1321 gtgaagaagc tcatcactga tgagtttgtg aagcagaagt acctggacta tgccagagtc
     1381 cccaatagca atccccctga atatgagttc ttctggggcc tgcgctctta ctatgagacc
     1441 agcaagatga aagtcctcaa gtttgcctgc aaggtacaaa agaaggatcc caaggaatgg
     1501 gcagctcagt accgagaggc gatggaagcg gatttgaagg ctgcagctga ggctgcagct
     1561 gaagccaagg ctagggccga gattagagct cgaatgggca ttgggctcgg ctcggagaat
     1621 gctgccgggc cctgcaactg ggacgaagct gatatcggac cctgggccaa agcccggatc
     1681 caggcgggag cagaagctaa agccaaagcc caagagagtg gcagtgccag cactggtgcc
     1741 agtaccagta ccaataacag tgccagtgcc agtgccagca ccagtggtgg cttcagtgct
     1801 ggtgccagcc tgaccgccac tctcacattt gggctcttcg ctggccttgg tggagctggt
     1861 gccagcacca gtggcagctc tggtgcctgt ggtttctcct acaagtgaga ttttagatat
     1921 tgttaatcct gccagtcttt ctcttcaagc cagggtgcat cctcagaaac ctactcaaca
     1981 cagcactcta ggcagccact atcaatcaat tgaagttgac actctgcatt aaatctattt
     2041 gccatttctg a
//
