LOCUS       NM_005920               5912 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens myocyte enhancer factor 2D (MEF2D), transcript variant
            1, mRNA.
ACCESSION   NM_005920
VERSION     NM_005920.4
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 5912)
  AUTHORS   Zhang,Y., Lin,W., Yang,Y., Zhu,S., Chen,Y., Wang,H. and Teng,L.
  TITLE     MEF2D facilitates liver metastasis of gastric cancer cells through
            directly inducing H1X under IL-13 stimulation
  JOURNAL   Cancer Lett 591, 216878 (2024)
   PUBMED   38609001
  REMARK    GeneRIF: MEF2D facilitates liver metastasis of gastric cancer cells
            through directly inducing H1X under IL-13 stimulation.
REFERENCE   2  (bases 1 to 5912)
  AUTHORS   Xia,L., Nie,T., Lu,F., Huang,L., Shi,X., Ren,D., Lu,J., Li,X.,
            Xu,T., Cui,B., Wang,Q., Gao,G. and Yang,Q.
  TITLE     Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1
            activation and tumor progression in pancreatic cancer
  JOURNAL   Autophagy 20 (3), 505-524 (2024)
   PUBMED   37772772
  REMARK    GeneRIF: Direct regulation of FNIP1 and FNIP2 by MEF2 sustains
            MTORC1 activation and tumor progression in pancreatic cancer.
REFERENCE   3  (bases 1 to 5912)
  AUTHORS   Warmke,L.M., Mustafa,A., Zou,Y.S., Davis,J.L., Ulbright,T.M. and
            Segura,S.E.
  TITLE     Myxoid epithelioid smooth muscle tumor of the vulva: A distinct
            entity with MEF2D::NCOA2 gene fusion
  JOURNAL   Genes Chromosomes Cancer 63 (1), e23209 (2024)
   PUBMED   37870842
  REMARK    GeneRIF: Myxoid epithelioid smooth muscle tumor of the vulva: A
            distinct entity with MEF2D::NCOA2 gene fusion.
REFERENCE   4  (bases 1 to 5912)
  AUTHORS   Xiang,J., Zhang,N., Du,A., Li,J., Luo,M., Wang,Y., Liu,M., Yang,L.,
            Li,X., Wang,L., Liu,Q., Chen,D., Wang,T., Bian,X.W., Qin,Z.Y.,
            Su,L., Wen,L. and Wang,B.
  TITLE     A Ubiquitin-Dependent Switch on MEF2D Senses Pro-Metastatic Niche
            Signals to Facilitate Intrahepatic Metastasis of Liver Cancer
  JOURNAL   Adv Sci (Weinh) 10 (35), e2305550 (2023)
   PUBMED   37828611
  REMARK    GeneRIF: A Ubiquitin-Dependent Switch on MEF2D Senses
            Pro-Metastatic Niche Signals to Facilitate Intrahepatic Metastasis
            of Liver Cancer.
REFERENCE   5  (bases 1 to 5912)
  AUTHORS   Hirabayashi,S., Manabe,A., Ohki,K. and Kiyokawa,N.
  TITLE     [Clinical characteristics and outcomes of childhood B-ALL with
            ZNF384 and MEF2D rearrangements]
  JOURNAL   Rinsho Ketsueki 64 (7), 633-638 (2023)
   PUBMED   37544723
  REMARK    GeneRIF: [Clinical characteristics and outcomes of childhood B-ALL
            with ZNF384 and MEF2D rearrangements].
REFERENCE   6  (bases 1 to 5912)
  AUTHORS   Zhao,M., New,L., Kravchenko,V.V., Kato,Y., Gram,H., di Padova,F.,
            Olson,E.N., Ulevitch,R.J. and Han,J.
  TITLE     Regulation of the MEF2 family of transcription factors by p38
  JOURNAL   Mol Cell Biol 19 (1), 21-30 (1999)
   PUBMED   9858528
REFERENCE   7  (bases 1 to 5912)
  AUTHORS   Yang,C.C., Ornatsky,O.I., McDermott,J.C., Cruz,T.F. and Prody,C.A.
  TITLE     Interaction of myocyte enhancer factor 2 (MEF2) with a
            mitogen-activated protein kinase, ERK5/BMK1
  JOURNAL   Nucleic Acids Res 26 (20), 4771-4777 (1998)
   PUBMED   9753748
REFERENCE   8  (bases 1 to 5912)
  AUTHORS   Ornatsky,O.I. and McDermott,J.C.
  TITLE     MEF2 protein expression, DNA binding specificity and complex
            composition, and transcriptional activity in muscle and non-muscle
            cells
  JOURNAL   J Biol Chem 271 (40), 24927-24933 (1996)
   PUBMED   8798771
REFERENCE   9  (bases 1 to 5912)
  AUTHORS   Hobson,G.M., Krahe,R., Garcia,E., Siciliano,M.J. and Funanage,V.L.
  TITLE     Regional chromosomal assignments for four members of the MADS
            domain transcription enhancer factor 2 (MEF2) gene family to human
            chromosomes 15q26, 19p12, 5q14, and 1q12-q23
  JOURNAL   Genomics 29 (3), 704-711 (1995)
   PUBMED   8575763
REFERENCE   10 (bases 1 to 5912)
  AUTHORS   Breitbart,R.E., Liang,C.S., Smoot,L.B., Laheru,D.A., Mahdavi,V. and
            Nadal-Ginard,B.
  TITLE     A fourth human MEF2 transcription factor, hMEF2D, is an early
            marker of the myogenic lineage
  JOURNAL   Development 118 (4), 1095-1106 (1993)
   PUBMED   8269842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC377787.1, BC054520.1,
            AL139412.10 and R42560.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005920.3.
            
            Summary: This gene is a member of the myocyte-specific enhancer
            factor 2 (MEF2) family of transcription factors. Members of this
            family are involved in control of muscle and neuronal cell
            differentiation and development, and are regulated by class II
            histone deacetylases. Fusions of the encoded protein with Deleted
            in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation
            have been found in an acute lymphoblastic leukemia cell line,
            suggesting a role in leukemogenesis. The encoded protein may also
            be involved in Parkinson disease and myotonic dystrophy.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1, also known as
            hMEF2Dab).
            
            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.
            
            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 :: BC054520.1, ERR4352442.251280.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348159.9/ ENSP00000271555.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DC377787.1         68-105
            39-709              BC054520.1         1-671
            710-710             AL139412.10        41505-41505         c
            711-1183            BC054520.1         673-1145
            1184-1184           AL139412.10        37668-37668         c
            1185-3773           BC054520.1         1147-3735
            3774-5725           AL139412.10        24471-26422         c
            5726-5912           R42560.1           18-204              c
FEATURES             Location/Qualifiers
     source          1..5912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..5912
                     /gene="MEF2D"
                     /note="myocyte enhancer factor 2D"
                     /db_xref="GeneID:4209"
                     /db_xref="HGNC:HGNC:6997"
                     /db_xref="MIM:600663"
     exon            1..290
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            291..482
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     CDS             429..1994
                     /gene="MEF2D"
                     /note="isoform 1 is encoded by transcript variant 1; MADS
                     box transcription enhancer factor 2, polypeptide D;
                     myocyte-specific enhancer factor 2D"
                     /codon_start=1
                     /product="myocyte-specific enhancer factor 2D isoform 1"
                     /protein_id="NP_005911.1"
                     /db_xref="CCDS:CCDS1143.1"
                     /db_xref="GeneID:4209"
                     /db_xref="HGNC:HGNC:6997"
                     /db_xref="MIM:600663"
                     /translation="MGRKKIQIQRITDERNRQVTFTKRKFGLMKKAYELSVLCDCEIA
                     LIIFNHSNKLFQYASTDMDKVLLKYTEYNEPHESRTNADIIETLRKKGFNGCDSPEPD
                     GEDSLEQSPLLEDKYRRASEELDGLFRRYGSTVPAPNFAMPVTVPVSNQSSLQFSNPS
                     GSLVTPSLVTSSLTDPRLLSPQQPALQRNSVSPGLPQRPASAGAMLGGDLNSANGACP
                     SPVGNGYVSARASPGLLPVANGNSLNKVIPAKSPPPPTHSTQLGAPSRKPDLRVITSQ
                     AGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYN
                     TDYQLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQ
                     QPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHPHISIKSEPVSPSRERS
                     PAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGS
                     AVKRMRLDTWTLK"
     exon            483..686
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            687..824
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            825..1035
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1092
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1283
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1304
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1434
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1675
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1676..1982
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..5912
                     /gene="MEF2D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3395..3400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEF2D"
                     /note="hexamer: AATAAT"
     polyA_site      3422
                     /gene="MEF2D"
                     /note="major polyA site"
     regulatory      5882..5887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEF2D"
                     /note="hexamer: ATTAAA"
     polyA_site      5912
                     /gene="MEF2D"
ORIGIN      
        1 gagttacctt tggagcccga aaggaggaag gaagcaaaat atcaacaaca gccgaggcgg
       61 ctcaggcgct cggccccggt tccccgcttg cctgccgccc gcctgctggc ccccgcgccc
      121 acgacggggg cccaggcctc acggcgccgc ccagggcccg cgcggacgcc ggcctcattt
      181 attattctcc ccgcccggag ctgcggcttc ccggtgttga agatcccccg gaccaggggc
      241 gagggctacc cgctctttgc cgtgacaaca ccgttccccc agccgggctg gaggctgtgc
      301 agaaggtatc ctgcagacca tgaactgagc actgttccca gaccgttcat gagcacagtg
      361 taaggtgtgc cgagacccac cacccagcga gcccctcccc tccgtagcac tgaggacccc
      421 cggagaagat ggggaggaaa aagattcaga tccagcgaat caccgacgag cggaaccgac
      481 aggtgacttt caccaagcgg aagtttggcc tgatgaagaa ggcgtatgag ctgagcgtgc
      541 tatgtgactg cgagatcgca ctcatcatct tcaaccactc caacaagctg ttccagtacg
      601 ccagcaccga catggacaag gtgctgctca agtacacgga gtacaatgag ccacacgaga
      661 gccgcaccaa cgccgacatc atcgagaccc tgaggaagaa gggcttcaac ggctgcgaca
      721 gccccgagcc cgacggggag gactcgctgg aacagagccc cctgctggag gacaagtacc
      781 gacgcgccag cgaggagctc gacgggctct tccggcgcta tgggtcaact gtcccggccc
      841 ccaactttgc catgcctgtc acggtgcccg tgtccaatca gagctcactg cagttcagca
      901 atcccagcgg ctccctggtc accccttccc tggtgacatc atccctcacg gacccgcggc
      961 tcctgtcccc ccagcagcca gcactacaga ggaacagtgt gtctcctggc ctgccccagc
     1021 ggccagctag tgcgggggcc atgctggggg gtgacctgaa cagtgctaac ggagcctgcc
     1081 ccagccctgt tgggaatggc tacgtcagtg ctcgggcttc ccctggcctc ctccctgtgg
     1141 ccaatggcaa cagcctaaac aaggtcatcc ctgccaagtc tccaccccca cctacccaca
     1201 gcacccagct tggagccccc agccgcaagc ccgacctgcg agtcatcact tcccaggcag
     1261 gaaaggggtt aatgcatcac ttgactgagg accatttaga tctgaacaat gcccagcgcc
     1321 ttggggtctc ccagtctact cattcgctca ccaccccagt ggtttctgtg gcaacgccga
     1381 gtttactcag ccagggcctc cccttctctt ccatgcccac tgcctacaac acagattacc
     1441 agttgaccag tgcagagctc tcctccttac cagcctttag ttcacctggg gggctgtcgc
     1501 taggcaatgt cactgcctgg caacagccac agcagcccca gcagccgcag cagccacagc
     1561 ctccacagca gcagccaccg cagccacagc agccacagcc acagcagcct cagcagccgc
     1621 aacagccacc tcagcaacag tcccacctgg tccctgtatc tctcagcaac ctcatcccgg
     1681 gcagccccct gccccacgtg ggtgctgccc tcacagtcac cacccacccc cacatcagca
     1741 tcaagtcaga accggtgtcc ccaagccgtg agcgcagccc tgcgcctccc cctccagctg
     1801 tgttcccagc tgcccgccct gagcctggcg atggtctcag cagcccagcc gggggatcct
     1861 atgagacggg agaccgggat gacggacggg gggacttcgg gcccacactg ggcctgctgc
     1921 gcccagcccc agagcctgag gctgagggct cagctgtgaa gaggatgcgg cttgatacct
     1981 ggacattaaa gtgacgattc ccactcccct cctctcagcc tccctgatga agagttgaca
     2041 atctcaccgc ccgcccttcc ctgccccggg ctcctcccgc tcgaccccca cttcctttct
     2101 tgtgcttcgt gtcctgttga cggttacatt tgtgtataat tattatatta ttattattat
     2161 tattatattt tttttaattt ggattctcgc tttggagagg gggatgctct catcccctct
     2221 ttctgtaccc cccaccattt tcactggctg gggggctctc tttttcgcgg gaagggggga
     2281 cactttgcac gttgtacaca tatgctgcag gaagggggtg gggggcccaa taaggccttt
     2341 gggaaaggac aggtgccgag ccctgcatgt ggagccctcc caccccaccc ccagatagag
     2401 ggaaataacc aaaaaactac caaacaacag aaacccacac tctagactga aaccccaaag
     2461 tgggcttgat gggtgggttt gtgtttcaag gggaaagtga ggcagaggtt ctgaaaaggg
     2521 tctctgtttt tgtgttcatg tagccatagg cacatggagc agaatactta agcctggccc
     2581 ccaaatgccc ctgcacacac acgtgccaca cctgcgctga ttcttgtgtg tgctgcaccc
     2641 ccaaggtgtg tgggtgctgg ctgagctttg ggccgggaag gcagcctggg aatctgaggc
     2701 tggagacagg ggtttgaggt gggggcctct ctggaagcac atttggaggg aaagacaaga
     2761 gagccatgag gagagggctg aggagggcag aagggctagg cagggggcaa attgagcccc
     2821 tcccttcccc agtttttctc taagatatac agtgcaatag ctccccaccc ctcagttgac
     2881 gccagccctg taaagctggc cacagtgtgc agggagaatg gggagagggt cttcagtgag
     2941 gtggctgggg cgagagtcgg cctggacttc cctggggtgc tccaggccag agctctttca
     3001 ttggggcgag tgtggtgagg ggacgtcctt ggtcttgcac gcacactacc tgggggagtc
     3061 aacactggga tggtctgtgg ggtgggaggg cctacggatg ggtccgtaga ggtcccacct
     3121 ccctcattcc tccttggccc ctctccctag cttctcctgt tagctccttc tgctcctgac
     3181 cccacctcct tgctcttggc gcccctattg tctctggcta cctccttgtc ccaccacctc
     3241 caggctgcat cccaccttcc ctcttggcta ctgtaattgt aaatagcgac ctttggaaaa
     3301 cgttagcggt gtaacagtcc aggaaactgt ttttttttgt tgttgttgta ttgatatgaa
     3361 atgagattct atttttgtca aagtatattg taataataat gactcaaacg gcccgtactg
     3421 tacagacgag attcttctgc tgttgttctt gctcccctcc cctcctctga gtccgcccct
     3481 ccctgctgcc tcctcagtgg ggcagtgggc aaggggccca ggggcagccg aagcacgggg
     3541 tcctgagacc tcaggcagga ttggagatca aaccagaggg ggcaggcccc cagcctgctc
     3601 tctaggatca ccccccgccc taaggggcct ggcctggggt gacgtggcca ggcagactgt
     3661 ctgccccact ccttcacaca agcccagctc ctctgcccaa ggggtgcggc gcccccttgg
     3721 ggtttcctcc cagttggaga gtagagttaa gacaaggccc agttttgtgt tagccgaccg
     3781 tctttgccca cctctatgac ccagcctctt gcagtattcc catacttgat gcagggaagg
     3841 aaccagaagc agaggggcct ctacgcaggt acacacgtgt acctgagtgt gttcatgagg
     3901 gcatctggtg tttatgtgtc tgagtgtagc tttgtattta tgtgtgtgtg tgtgtgtatg
     3961 tctgattgca cgggtgtact tttgtattta tgtgtgtgtg tggttgcacg ggtgtgcctc
     4021 tgtgtgtctc tgaccctggc tgggtgtgtg tgcaaatctg tgtgactgga gctctagggg
     4081 catctctgtg tctgagtgtg cctggtgtgt gtttacaaag ggagagttgg ctgctccagc
     4141 tccacagccc tgggacccca actcctgtct tccctgctcc tttccctgtg ttcaccctca
     4201 gctctgacac attgaactgc agttgggggg attggcagtt agccctctgt gcttctccct
     4261 gcagccctac ctctgccaag gtctctccct ccagggacct ctgcttccac ccacatatgt
     4321 ccacttagtc acccacactt gacacagttc ctggagtacc ctcttccccc aaccccagac
     4381 ctgctttcag agcaaaactc aagtccctct tcctccgtga agcttctccc tcagctgagc
     4441 agtgatcact tactcactct taaccccaat ccgctgactg ggtggggaca gcacgtccag
     4501 ccttcccacc tctcctgcag gcttctagac ggagtttcaa aaactgatga gcctcgatcc
     4561 agggcttgaa agaagccagg gtgtaatctt gttcatgcat gcgtccccag agcctcgccc
     4621 agtgcctggc acatagtagg cactcaataa atgctgaatg ggtgaatagt tgaatgatag
     4681 gtgctcaata aatgaatgaa tggccttccc ttctcaggct attcccacca ttagtctgcc
     4741 cacctttcta ggctgggctt ggccaccatt aaacacgggg tgggggtgag ggcccctgca
     4801 attcacggtg caatattcac cagttttgcc ctctgcctca taaaggcaaa cctggctttt
     4861 gattaccatg tgtggatgtt tcagtgtcct ttcttctctg tccctgggga tggggtggtc
     4921 tgtgaatatg tgacatttct gcagttcagt atccgaaggt ttctcttggg ggtaggggct
     4981 cctgggcggc cagatgaatg ggtccctggg aacccagacc tcagatgagg acttaatgtc
     5041 ttcttcctct caagccaaat tcgcctccac ccactccctc tgaagaactg ggcatttgcc
     5101 aaagtaacca ctggagtcat ctaatggccc tccccctccc caggtttccc acagctttca
     5161 gggacagtgg gcaagaggac accccccccc accacctcag tggaacacac cattctcccc
     5221 ccctcaacag cacactcagt gcagcaagac tgacccctga ccccctccca gccctcccta
     5281 ccttggacag gaaggaagta atgcaccttc tcttgctgat tatttatttg tttggagaga
     5341 cagaaatgta aaagtgtatc tagaaatatc tatatctcta tatattttta actgactctt
     5401 tggaatcccc tggggtgggg tgaggggtaa gtttaggctt tcgcggaggg gaggagacat
     5461 ggagcctggg aactccttgt tctcccctct gctgcctctc cccacccctt aaagcagttg
     5521 gtagaaggaa tggtatttgt atggggggag ggaggctgga atggagaatc tggattctct
     5581 cctcttcccc attctccaga gggagggagg tggtgaggaa gaggaaggga ggggcaggat
     5641 gggccatgga ggtgccccac ccccacacct gacaatcacc cacactcctg gggctcttcc
     5701 tgggtcctgg ggcagggcga gtccaagtgt gaggctgttg atttgttttc aatatttctt
     5761 ttcgtgctgt atggtgatgc tttcttagta ttctacacaa taagaaaaga caaagtcctc
     5821 gagattctta tgagttttgt ttgaaaactc tttcactata tttgttgtaa agaggtttac
     5881 tattaaaaga aaaagaatac acgtttctga ta
//
