LOCUS       NM_006439               2543 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens mab-21 like 2 (MAB21L2), mRNA.
ACCESSION   NM_006439 XM_938794
VERSION     NM_006439.5
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 2543)
  AUTHORS   Ceroni,F., Cicekdal,M.B., Holt,R., Sorokina,E., Chassaing,N.,
            Clokie,S., Naert,T., Talbot,L.V., Muheisen,S., Bax,D.A., Kesim,Y.,
            Kivuva,E.C., Vincent-Delorme,C., Lienkamp,S.S., Plaisancie,J., De
            Baere,E., Calvas,P., Vleminckx,K., Semina,E.V. and Ragge,N.K.
  TITLE     Deletion upstream of MAB21L2 highlights the importance of
            evolutionarily conserved non-coding sequences for eye development
  JOURNAL   Nat Commun 15 (1), 9245 (2024)
   PUBMED   39455595
  REMARK    GeneRIF: Deletion upstream of MAB21L2 highlights the importance of
            evolutionarily conserved non-coding sequences for eye development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2543)
  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 2543)
  AUTHORS   Huang,Z.X., Xiang,J.W., Zhou,L., Nie,Q., Wang,L., Chen,Z.G.,
            Hu,X.H., Xiao,Y., Qing,W.J., Liu,Y.F., Sun,Q., Tang,X.C., Liu,F.Y.,
            Luo,Z.W., Liu,W.B. and Li,D.W.
  TITLE     The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye
            Development
  JOURNAL   Curr Mol Med 16 (7), 660-667 (2016)
   PUBMED   27558071
  REMARK    GeneRIF: mab21 gene family members, mab21l1 and mab21l2, play
            important roles in regulating eye development. [review]
            Review article
REFERENCE   4  (bases 1 to 2543)
  AUTHORS   Horn,D., Prescott,T., Houge,G., Braekke,K., Rosendahl,K.,
            Nishimura,G., FitzPatrick,D.R. and Spranger,J.
  TITLE     A Novel Oculo-Skeletal syndrome with intellectual disability caused
            by a particular MAB21L2 mutation
  JOURNAL   Eur J Med Genet 58 (8), 387-391 (2015)
   PUBMED   26116559
  REMARK    GeneRIF: The two unrelated individuals with a novel oculo-skeletal
            syndrome with intellectual disability described are heterozygous
            carriers of the same de novo missense mutation c.151C > T
            (p.Arg51Cys) in MAB21L2.
REFERENCE   5  (bases 1 to 2543)
  AUTHORS   Deml,B., Kariminejad,A., Borujerdi,R.H., Muheisen,S., Reis,L.M. and
            Semina,E.V.
  TITLE     Mutations in MAB21L2 result in ocular Coloboma, microcornea and
            cataracts
  JOURNAL   PLoS Genet 11 (2), e1005002 (2015)
   PUBMED   25719200
  REMARK    GeneRIF: These findings support the identification of MAB21L2 as a
            novel factor involved in human coloboma and highlight the power of
            genome editing manipulation in model organisms for analysis of the
            effects of whole exome variation in humans.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2543)
  AUTHORS   Rainger,J., Pehlivan,D., Johansson,S., Bengani,H.,
            Sanchez-Pulido,L., Williamson,K.A., Ture,M., Barker,H.,
            Rosendahl,K., Spranger,J., Horn,D., Meynert,A., Floyd,J.A.,
            Prescott,T., Anderson,C.A., Rainger,J.K., Karaca,E.,
            Gonzaga-Jauregui,C., Jhangiani,S., Muzny,D.M., Seawright,A.,
            Soares,D.C., Kharbanda,M., Murday,V., Finch,A., Gibbs,R.A., van
            Heyningen,V., Taylor,M.S., Yakut,T., Knappskog,P.M., Hurles,M.E.,
            Ponting,C.P., Lupski,J.R., Houge,G. and FitzPatrick,D.R.
  CONSRTM   UK10K; Baylor-Hopkins Center for Mendelian Genomics
  TITLE     Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of
            major eye malformations
  JOURNAL   Am J Hum Genet 94 (6), 915-923 (2014)
   PUBMED   24906020
  REMARK    GeneRIF: This report provides compelling human genomic and genetic
            evidence that mutations in MAB21L2 cause major eye malformations.
REFERENCE   7  (bases 1 to 2543)
  AUTHORS   Mariani,M., Baldessari,D., Francisconi,S., Viggiano,L., Rocchi,M.,
            Zappavigna,V., Malgaretti,N. and Consalez,G.G.
  TITLE     Two murine and human homologs of mab-21, a cell fate determination
            gene involved in Caenorhabditis elegans neural development
  JOURNAL   Hum Mol Genet 8 (13), 2397-2406 (1999)
   PUBMED   10556287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110813.4 and BC009983.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006439.4.
            
            Summary: This gene is similar to the C. elegans MAB-21 cell
            fate-determining gene, a downstream target of transforming growth
            factor-beta signaling. It is thought that this gene may be involved
            in neural development. The protein encoded by this gene is
            primarily nuclear, although some cytoplasmic localization has been
            observed. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence data to make the sequence
            consistent with the reference genome assembly. The extent of this
            RefSeq transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK055665.1, AF262032.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317605.6/ ENSP00000324701.4
            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
            1-276               AC110813.4         5999-6274
            277-2019            BC009983.2         1-1743
            2020-2332           AC110813.4         8018-8330
            2333-2543           BC009983.2         2056-2266
FEATURES             Location/Qualifiers
     source          1..2543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     gene            1..2543
                     /gene="MAB21L2"
                     /gene_synonym="MCOPS14; MCSKS14"
                     /note="mab-21 like 2"
                     /db_xref="GeneID:10586"
                     /db_xref="HGNC:HGNC:6758"
                     /db_xref="MIM:604357"
     exon            1..2543
                     /gene="MAB21L2"
                     /gene_synonym="MCOPS14; MCSKS14"
                     /inference="alignment:Splign:2.1.0"
     CDS             880..1959
                     /gene="MAB21L2"
                     /gene_synonym="MCOPS14; MCSKS14"
                     /codon_start=1
                     /product="protein mab-21-like 2"
                     /protein_id="NP_006430.1"
                     /db_xref="CCDS:CCDS3774.1"
                     /db_xref="GeneID:10586"
                     /db_xref="HGNC:HGNC:6758"
                     /db_xref="MIM:604357"
                     /translation="MIAAQAKLVYQLNKYYTERCQARKAAIAKTIREVCKVVSDVLKE
                     VEVQEPRFISSLSEIDARYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKL
                     SDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAVDKCSYRDVVKMIADTSEVKL
                     RIRERYVVQITPAFKCTGIWPRSAAQWPMPHIPWPGPNRVAEVKAEGFNLLSKECYSL
                     TGKQSSAESDAWVLQFGEAENRLLMGGCRNKCLSVLKTLRDRHLELPGQPLNNYHMKT
                     LLLYECEKHPRETDWDESCLGDRLNGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSA
                     LESAAKQTWRLAREILTNPKSLDKL"
     regulatory      2518..2523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAB21L2"
                     /gene_synonym="MCOPS14; MCSKS14"
                     /note="hexamer: AATAAA"
     polyA_site      2543
                     /gene="MAB21L2"
                     /gene_synonym="MCOPS14; MCSKS14"
                     /note="major polyA site"
ORIGIN      
        1 agatgcaacg caagcaacga cttcgtcaca ctaaaacgga ttttgtgagg gccaaaagta
       61 taaattacga agcagaaatg attatcaaac aacttccagc ggtttgcacc taaagaaaca
      121 caaggagaac ccactacaaa caaacaaacc cagtccaaac aacgcctcca gtaggaaaag
      181 aggaaaactg cgataacacg accccccgag aagagacgag accaacacgc tgagactgtg
      241 gggcgtcagc aaacctccaa gtgcacggcg gactgagttg tacttcgcag ctctctggac
      301 attaattacc tcctgcacct tccatttggg ggagggtgag gaagaaggca ctcacctaca
      361 ctgagcgaag aagtcctatc agcgtggaag agaagtttaa gaatgaacca ctgaatgttt
      421 cgcttttatt tttaaattta ctttggcact taaaaaacct catttccaga tttctggaca
      481 atctcggctg cagacatcta agcctaacct tttggtatcc tgagtttttt ccctctcctt
      541 ctccttcctc acgcccaccc cgcttctctc gcacacggtc atctttacat atcaagagaa
      601 agcaaaaagg ttccaagagg tacttttctt tttagaaaat caccttttct cccctaattc
      661 ttctgcagaa gaaaagaggt ttcgaaagag ggaaaaggaa aaaacaagcc ggctacggta
      721 tcagccggtc agcccaggtg gaaaacgaga gtgaaagtag ggcttaacgg ggagcgcacc
      781 gcctctttcg aaagccgctg ggccaccacc agtgcgtgag ccttggatcc ctcaacgtat
      841 tgcgagacgc cggtgtatag cccggacctg tgccccaaca tgatcgccgc tcaggccaag
      901 ctggtttacc agctcaataa gtactacact gagcgctgtc aggcgcgcaa ggcggccatc
      961 gccaaaacca tccgagaggt ctgtaaggtg gtctcggacg tgctcaagga agtggaggtg
     1021 caggagcctc gcttcatcag ctccttgagc gagatcgatg cccgctacga ggggctcgag
     1081 gtcatttcgc ccaccgaatt tgaggtggtg ctctacctaa accagatggg cgtcttcaac
     1141 ttcgtggacg acggctcgct gcccggctgc gcagtgctca aactgagcga tgggcggaag
     1201 cggagcatgt ctctctgggt cgagttcatc acggcgtcgg gctatctctc agcgcgtaag
     1261 atccgctcgc gtttccagac gctggtggcc caggcggtgg acaagtgcag ctatcgggat
     1321 gtggtcaaga tgatcgcgga caccagcgag gtcaagttgc gcatcaggga gcgctatgtg
     1381 gtgcaaatca ctccggcgtt caagtgcacc gggatctggc ctcgcagcgc ggcacagtgg
     1441 cctatgcccc acatcccttg gcccggcccc aatcgggtgg ccgaggtcaa ggccgaaggg
     1501 ttcaacttgc tctcgaagga gtgctactcg ctgaccggca agcagagctc ggcagagagc
     1561 gacgcctggg tgctacagtt cggggaggcg gagaaccgcc tgctgatggg cggctgccga
     1621 aacaagtgcc tctcagtgct gaagactctg cgggaccgcc acctggagct acccggccag
     1681 ccgctcaaca actaccacat gaagacgctg ctgctgtacg agtgcgagaa acacccacga
     1741 gaaacggact gggacgagtc gtgcctgggc gaccggctca acggcatcct gctgcagctc
     1801 atctcctgcc tgcagtgccg ccgctgccct cactactttc tgcccaacct cgacctcttt
     1861 cagggcaagc cccattcggc cctggagagc gctgccaagc agacctggag gttggccagg
     1921 gaaattctca ccaatcccaa aagcctggac aaactatagg gtgctgggga ctgcttgaaa
     1981 agcgacacaa acgggcgtgc tctctcagac acacaactct gctataaaca gcagaaactc
     2041 tggacacaaa cttttatgta agtcacctga aataggaatc cggcagaaga ccttcattaa
     2101 ttaagaagca aacaaaaaga gagcaaccca accaaaacaa atcacattct tgcacaaaag
     2161 tgatcgtttt cttccaaaca atgtgaattt aaaaggtcac acaaaagaag caatcgggct
     2221 ccgccaccac aaaatgaaac ccaaggtaca ttttcaaatc aatgtatagt agttcccccc
     2281 ccttttcctt ctttccccct atcctttttc tctccacccc atcccccccc ccatttcgtt
     2341 ttgcttttgg ttgcctgaat gttgtcacca agtgaaaaaa ttatttaact atatgtaaaa
     2401 tttctctttt aaaaaaaagt tttactgatg ttaaacgttc tcagtgccaa tgtcagactg
     2461 tgctcctccc tctcctgaac ctctaccctc accctgagct gtcttgttga aaacagtaat
     2521 aaaaacatta ctttacattg taa
//
