LOCUS       NM_001145113            2452 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens myeloid associated differentiation marker like 2
            (MYADML2), mRNA.
ACCESSION   NM_001145113 XR_041346 XR_041347 XR_041348
VERSION     NM_001145113.3
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 2452)
  AUTHORS   Yildiz Bolukbasi,E., Shabbir,R.M.K., Malik,S. and Tolun,A.
  TITLE     Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone
            maturation, multiple dislocations, lumbar lordosis, and prominent
            clavicles
  JOURNAL   J Hum Genet 66 (2), 171-179 (2021)
   PUBMED   32778762
  REMARK    GeneRIF: Homozygous deletion of MYADML2 in cranial asymmetry,
            reduced bone maturation, multiple dislocations, lumbar lordosis,
            and prominent clavicles.
REFERENCE   2  (bases 1 to 2452)
  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   3  (bases 1 to 2452)
  AUTHORS   Aranda,J.F., Reglero-Real,N., Kremer,L., Marcos-Ramiro,B.,
            Ruiz-Saenz,A., Calvo,M., Enrich,C., Correas,I., Millan,J. and
            Alonso,M.A.
  TITLE     MYADM regulates Rac1 targeting to ordered membranes required for
            cell spreading and migration
  JOURNAL   Mol Biol Cell 22 (8), 1252-1262 (2011)
   PUBMED   21325632
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC029306.1, AC145207.2 and BM674638.1.
            
            On May 17, 2019 this sequence version replaced NM_001145113.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029306.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409745.2/ ENSP00000386702.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-274               BC029306.1         1-274
            275-1911            AC145207.2         45158-46794
            1912-2452           BM674638.1         18-558              c
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2452
                     /gene="MYADML2"
                     /note="myeloid associated differentiation marker like 2"
                     /db_xref="GeneID:255275"
                     /db_xref="HGNC:HGNC:34548"
     exon            1..175
                     /gene="MYADML2"
                     /inference="alignment:Splign:2.1.0"
     exon            176..253
                     /gene="MYADML2"
                     /inference="alignment:Splign:2.1.0"
     exon            254..2452
                     /gene="MYADML2"
                     /inference="alignment:Splign:2.1.0"
     CDS             356..1279
                     /gene="MYADML2"
                     /codon_start=1
                     /product="myeloid-associated differentiation marker-like
                     protein 2"
                     /protein_id="NP_001138585.2"
                     /db_xref="CCDS:CCDS45815.1"
                     /db_xref="GeneID:255275"
                     /db_xref="HGNC:HGNC:34548"
                     /translation="MGSTMEPPGGAYLHLGAVTSPVGTARVLQLAFGCTTFSLVAHRG
                     GFAGVQGTFCMAAWGFCFAVSALVVACEFTRLHGCLRLSWGNFTAAFAMLATLLCATA
                     AVLYPLYFARRECSPEPAGCAARDFRLAASVFAGLLFLAYAVEVALTRARPGQVSSYM
                     ATVSGLLKIVQAFVACIIFGALVHDSRYGRYVATQWCVAVYSLCFLATVAVVALSVMG
                     HTGGLGCPFDRLVVVYTFLAVLLYLSAAVIWPVFCFDPKYGEPKRPPNCARGSCPWDS
                     QLVVAIFTYVNLLLYVVDLAYSQRIRFVPSL"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYADML2"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /gene="MYADML2"
                     /note="major polyA site"
ORIGIN      
        1 cttcagatgc cagtcccaag tacagctgtc cctttgtatc cttgggggat gggatccagt
       61 acctccaaaa caccagaatc cacaaggcca gagtccctga tacaaaatgg catgttattt
      121 gcatataacc ccctcctctg gacttaaatc acctcttgat tacttataac acctgaaccc
      181 tgtgaacccc aggcaatgac agcaggatcc tgaagcccat gcaggctctg aaccacgcgg
      241 ccatccagaa ggggctgcag gcacctgcca ctaccgcaga ggactgaggg gccttggccc
      301 agcagggacc ccagggcctt gggggactgt gtgagctgga aacgtggctg gccagatggg
      361 cagcaccatg gagccccctg ggggtgcgta cctgcacctg ggcgccgtga catcccctgt
      421 gggcacagcc cgcgtgctgc agctggcctt tggctgcact accttcagcc tggtggccca
      481 ccggggtggc tttgcgggcg tccagggcac cttctgcatg gccgcctggg gcttctgctt
      541 cgccgtctct gcgctggtgg tggcctgtga gttcacacgg ctccacggct gcctgcggct
      601 ctcctggggc aacttcaccg ccgccttcgc catgctggcc accctgctat gcgcgacggc
      661 tgcggtcctg tatccgctgt actttgcccg gcgggagtgt tcccccgagc ccgccggctg
      721 tgctgccagg gacttccgcc tggcagccag tgtcttcgcc gggctcctct tcctggccta
      781 cgctgtggag gtggccctga cgcgggcccg gcccggccag gtgagcagct atatggccac
      841 ggtgtcgggg ctcctcaaga tcgtccaggc cttcgtggcc tgcatcatct tcggggcgct
      901 ggtccatgac agccgctacg ggcgctacgt ggccacccag tggtgcgtgg ccgtctacag
      961 cctgtgcttc ctggccacag tggccgtggt ggccctgagt gtgatgggcc acacaggggg
     1021 cctgggctgc ccctttgacc ggctggtggt ggtgtacacc ttcctggctg tgctcctgta
     1081 cctcagcgcc gccgtgatct ggccagtctt ctgtttcgat cccaagtacg gtgagcccaa
     1141 acggcccccc aactgtgctc ggggcagctg tccctgggac agccagctgg tggtggccat
     1201 cttcacctac gtcaacctgc tcctgtacgt cgttgacctc gcctactccc agaggattcg
     1261 cttcgtgccc agcctgtagc ccacagtggc agcccaccca cctctgctct ctggccacca
     1321 gctccaggct ctgcgaggga aactcaggtg aaccaaagtg tcaagtagcg agcaggaggg
     1381 aagccgcggg ctcaggggag atgaagtaca acgggagagg tcactccccg acttccagac
     1441 tgggctcaga gggacaaggg caggacagta gggcagaggc cctgagcaga cgcaggggag
     1501 agcctcacct aggccaatcc ccaactcact ctctctcacc atttcccagc gctcctgggg
     1561 ctcagtgctg gtcactggaa catcataagg gaaaacttta aagcagctgc tgttgtgacc
     1621 cattttgcag ctggggacat ggaggctaga agcatttgcg aggcacccag tacctccatt
     1681 agtgtctgga gaccacagtc aggctgggta aggcaagctg aaagaggaat gacttccaga
     1741 ggagacgaac ccaggagagt agctgggcca ggcaagggga gggaggggcg tggggagccg
     1801 gaaccactcc tggttcagag aggcagctcc cagaaccctg ggaagagagc cctgcctggg
     1861 gagctgtgcc agctcacaga gaaggagcca gaaatctgga ccagcctctc ccacccacgt
     1921 ccgggaagcc tctgggctgg tagccacagt gtttggaagc aggcttcctc cggagtctcc
     1981 gcaggctgga ggtggcgcgg gtggcctgga agagcctgca gagcccggcg gcaccgagtg
     2041 cacagtggac ggggaggacc tggttccgcc atagccacgg agccccacct ggacactcac
     2101 cattggctgt gacgaagcag cttcagcagt gcccggcggg catctgtgca ctgtgggcat
     2161 ctgtggcact gggagggagc ccggctgagg gcggccgctg gacacagaat ctgggtactg
     2221 cttgcctctg ctcaagggtc cagttgccga aactcctgac gccggggcca tcatcctcca
     2281 ggctccagcc agcttctcct gcacagaagc ccagcctggt ccagccagga gctgacccac
     2341 tggccacccc tgagtccaag ccgggtgggc agtggcacaa cagcccctca gcccattgac
     2401 tgggccccat tgacgtcctt gagcaggaaa taaatgctga catttatacg ta
//
