LOCUS       NM_006160               3030 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens neuronal differentiation 2 (NEUROD2), mRNA.
ACCESSION   NM_006160
VERSION     NM_006160.4
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 3030)
  AUTHORS   Cota,P., Saber,L., Taskin,D., Jing,C., Bastidas-Ponce,A.,
            Vanheusden,M., Shahryari,A., Sterr,M., Burtscher,I., Bakhti,M. and
            Lickert,H.
  TITLE     NEUROD2 function is dispensable for human pancreatic beta cell
            specification
  JOURNAL   Front Endocrinol (Lausanne) 14, 1286590 (2023)
   PUBMED   37955006
  REMARK    GeneRIF: NEUROD2 function is dispensable for human pancreatic beta
            cell specification.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3030)
  AUTHORS   Runge,K., Mathieu,R., Bugeon,S., Lafi,S., Beurrier,C., Sahu,S.,
            Schaller,F., Loubat,A., Herault,L., Gaillard,S.,
            Pallesi-Pocachard,E., Montheil,A., Bosio,A., Rosenfeld,J.A.,
            Hudson,E., Lindstrom,K., Mercimek-Andrews,S., Jeffries,L., van
            Haeringen,A., Vanakker,O., Van Hecke,A., Amrom,D., Kury,S.,
            Ratner,C., Jethva,R., Gamble,C., Jacq,B., Fasano,L., Santpere,G.,
            Lorente-Galdos,B., Sestan,N., Gelot,A., Giacuzz,S., Goebbels,S.,
            Represa,A., Cardoso,C., Cremer,H. and de Chevigny,A.
  TITLE     Disruption of NEUROD2 causes a neurodevelopmental syndrome with
            autistic features via cell-autonomous defects in forebrain
            glutamatergic neurons
  JOURNAL   Mol Psychiatry 26 (11), 6125-6148 (2021)
   PUBMED   34188164
  REMARK    GeneRIF: Disruption of NEUROD2 causes a neurodevelopmental syndrome
            with autistic features via cell-autonomous defects in forebrain
            glutamatergic neurons.
            Erratum:[Mol Psychiatry. 2021 Dec;26(12):7852. doi:
            10.1038/s41380-021-01234-7.. PMID: 34282265]
REFERENCE   3  (bases 1 to 3030)
  AUTHORS   Mis,E.K., Sega,A.G., Signer,R.H., Cartwright,T., Ji,W.,
            Martinez-Agosto,J.A., Nelson,S.F., Palmer,C.G.S., Lee,H.,
            Mitzelfelt,T., Konstantino,M., Jeffries,L., Khokha,M.K., Marco,E.,
            Martin,M.G. and Lakhani,S.A.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Expansion of NEUROD2 phenotypes to include developmental delay
            without seizures
  JOURNAL   Am J Med Genet A 185 (4), 1076-1080 (2021)
   PUBMED   33438828
  REMARK    GeneRIF: Expansion of NEUROD2 phenotypes to include developmental
            delay without seizures.
REFERENCE   4  (bases 1 to 3030)
  AUTHORS   Sega,A.G., Mis,E.K., Lindstrom,K., Mercimek-Andrews,S., Ji,W.,
            Cho,M.T., Juusola,J., Konstantino,M., Jeffries,L., Khokha,M.K. and
            Lakhani,S.A.
  TITLE     De novo pathogenic variants in neuronal differentiation factor 2
            (NEUROD2) cause a form of early infantile epileptic encephalopathy
  JOURNAL   J Med Genet 56 (2), 113-122 (2019)
   PUBMED   30323019
  REMARK    GeneRIF: NEUROD2 variants as a cause of early infantile epileptic
            encephalopathy.
REFERENCE   5  (bases 1 to 3030)
  AUTHORS   Agrawal,R., Garg,A., Benny Malgulwar,P., Sharma,V., Sarkar,C. and
            Kulshreshtha,R.
  TITLE     p53 and miR-210 regulated NeuroD2, a neuronal basic
            helix-loop-helix transcription factor, is downregulated in
            glioblastoma patients and functions as a tumor suppressor under
            hypoxic microenvironment
  JOURNAL   Int J Cancer 142 (9), 1817-1828 (2018)
   PUBMED   29226333
  REMARK    GeneRIF: Study identifies a novel role of NeuroD2 as a tumor
            suppressor and prognostic biomarker in GBM the levels of which are
            tightly regulated by p53 and miR-210.
REFERENCE   6  (bases 1 to 3030)
  AUTHORS   Shibata,H., Oda,H., Mukai,H., Oishi,K., Misaki,K., Ohkubo,H. and
            Ono,Y.
  TITLE     Interaction of PKN with a neuron-specific basic helix-loop-helix
            transcription factor, NDRF/NeuroD2
  JOURNAL   Brain Res Mol Brain Res 74 (1-2), 126-134 (1999)
   PUBMED   10640683
REFERENCE   7  (bases 1 to 3030)
  AUTHORS   Kitamura,T., Miyachi,T., Nakamura,S. and Kawakami,H.
  TITLE     Identification and analysis of the promoter region of the human
            NeuroD-related factor (NDRF)1
  JOURNAL   Biochim Biophys Acta 1445 (1), 142-147 (1999)
   PUBMED   10209266
REFERENCE   8  (bases 1 to 3030)
  AUTHORS   Kume,H., Maruyama,K., Shinozaki,K., Kuzume,H. and Obata,K.
  TITLE     Phosphorylation and spatiotemporal distribution of KW8
            (NDRF/NeuroD2), a NeuroD family basic helix-loop-helix protein
  JOURNAL   Brain Res Mol Brain Res 60 (1), 107-114 (1998)
   PUBMED   9748526
REFERENCE   9  (bases 1 to 3030)
  AUTHORS   Tamimi,R.M., Steingrimsson,E., Montgomery-Dyer,K., Copeland,N.G.,
            Jenkins,N.A. and Tapscott,S.J.
  TITLE     NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and
            5q23-q31 and mouse chromosomes 11 and 13, respectively
  JOURNAL   Genomics 40 (2), 355-357 (1997)
   PUBMED   9119405
REFERENCE   10 (bases 1 to 3030)
  AUTHORS   McCormick,M.B., Tamimi,R.M., Snider,L., Asakura,A., Bergstrom,D.
            and Tapscott,S.J.
  TITLE     NeuroD2 and neuroD3: distinct expression patterns and
            transcriptional activation potentials within the neuroD gene family
  JOURNAL   Mol Cell Biol 16 (10), 5792-5800 (1996)
   PUBMED   8816493
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022481.1, AC087491.5 and
            AW134767.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006160.3.
            
            Summary: This gene encodes a member of the neuroD family of
            neurogenic basic helix-loop-helix (bHLH) proteins. Expression of
            this gene can induce transcription from neuron-specific promoters,
            such as the GAP-43 promoter, which contain a specific DNA sequence
            known as an E-box. The product of the human gene can induce
            neurogenic differentiation in non-neuronal cells in Xenopus
            embryos, and is thought to play a role in the determination and
            maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008].
            
            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 :: BC022481.1, SRR3476690.757441.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302584.5/ ENSP00000306754.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-507               BC022481.1         1-507
            508-508             AC087491.5         36889-36889         c
            509-1013            BC022481.1         509-1013
            1014-1014           AC087491.5         36383-36383         c
            1015-1395           BC022481.1         1015-1395
            1396-2877           AC087491.5         34520-36001         c
            2878-3030           AW134767.1         17-169              c
FEATURES             Location/Qualifiers
     source          1..3030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..3030
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /note="neuronal differentiation 2"
                     /db_xref="GeneID:4761"
                     /db_xref="HGNC:HGNC:7763"
                     /db_xref="MIM:601725"
     exon            1..193
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /inference="alignment:Splign:2.1.0"
     exon            194..3030
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1347
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /note="neuroD-related factor; neurogenic
                     basic-helix-loop-helix protein; class A basic
                     helix-loop-helix protein 1; neurogenic differentiation 2"
                     /codon_start=1
                     /product="neurogenic differentiation factor 2"
                     /protein_id="NP_006151.3"
                     /db_xref="CCDS:CCDS11338.1"
                     /db_xref="GeneID:4761"
                     /db_xref="HGNC:HGNC:7763"
                     /db_xref="MIM:601725"
                     /translation="MLTRLFSEPGLLSDVPKFASWGDGEDDEPRSDKGDAPPPPPPAP
                     GPGAPGPARAAKPVPLRGEEGTEATLAEVKEEGELGGEEEEEEEEEEGLDEAEGERPK
                     KRGPKKRKMTKARLERSKLRRQKANARERNRMHDLNAALDNLRKVVPCYSKTQKLSKI
                     ETLRLAKNYIWALSEILRSGKRPDLVSYVQTLCKGLSQPTTNLVAGCLQLNSRNFLTE
                     QGADGAGRFHGSGGPFAMHPYPYPCSRLAGAQCQAAGGLGGGAAHALRTHGYCAAYET
                     LYAAAGGGGASPDYNSSEYEGPLSPPLCLNGNFSLKQDSSPDHEKSYHYSMHYSALPG
                     SRPTGHGLVFGSSAVRGGVHSENLLSYDMHLHHDRGPMYEELNAFFHN"
     regulatory      2996..3001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /note="hexamer: AATAAA"
     polyA_site      3030
                     /gene="NEUROD2"
                     /gene_synonym="bHLHa1; DEE72; EIEE72; NDRF"
                     /note="major polyA site"
ORIGIN      
        1 agagatgcca cactcgctcc gcggttcgca tggcgctctg aagacgccgg cgcccgccgc
       61 cttgaggagc cgctgccccc gctccctgaa gatgggggaa caatgaaata agcgagaaga
      121 tccctcttct cccccctctc tctcttgccc cctccccccc tcccctcccc tctccccttg
      181 actcctctcc gaggcaccat gctgacccgc ctgttcagcg agcccggcct tctctcggac
      241 gtgcccaagt tcgccagctg gggcgacggc gaagacgacg agccgaggag cgacaagggc
      301 gacgcgccgc caccgccacc gcctgcgccc gggccagggg ctccggggcc agcccgggcg
      361 gccaagccag tccctctccg tggagaagag gggacggagg ccacgttggc cgaggtcaag
      421 gaggaaggcg agctgggggg agaggaggag gaggaagagg aggaggaaga aggactggac
      481 gaggcggagg gcgagcggcc caagaagcgc gggcccaaga agcgcaagat gaccaaggcg
      541 cgcttggagc gctccaagct tcggcggcag aaggcgaacg cgcgggagcg caaccgcatg
      601 cacgacctga acgcagccct ggacaacctg cgcaaggtgg tgccctgcta ctccaagacg
      661 cagaagctgt ccaagatcga gacgctgcgc ctagccaaga actatatctg ggcgctctcg
      721 gagatcctgc gctccggcaa gcggccagac ctagtgtcct acgtgcagac tctgtgcaag
      781 ggtctgtcgc agcccaccac caatctggtg gccggctgtc tgcagctcaa ctctcgcaac
      841 ttcctcacgg agcaaggcgc cgacggtgcc ggccgcttcc acggctcggg cggcccgttc
      901 gccatgcacc cctacccgta cccgtgctcg cgcctggcgg gcgcacagtg ccaggcggcc
      961 ggcggcctgg gcggcggcgc ggcgcacgcc ctgcggaccc acggctactg cgccgcctac
     1021 gagacgctgt atgcggcggc aggcggtggc ggcgcgagcc cggactacaa cagctccgag
     1081 tacgagggcc cgctcagccc cccgctctgt ctcaatggca acttctcact caagcaggac
     1141 tcctcgcccg accacgagaa aagctaccac tactctatgc actactcggc gctgcccggt
     1201 tcgcggccca cgggccacgg gctagtcttc ggctcgtcgg ctgtgcgcgg gggcgtccac
     1261 tcggagaatc tcttgtctta cgatatgcac cttcaccacg accggggccc catgtacgag
     1321 gagctcaatg cgttttttca taactgagac ttcgcgccgg ctcccttctt tttcttttgc
     1381 ctttgcccgc ccccctgtcc ccagccccca gagcgcaggg acacccccat cctaccccgg
     1441 cgccgggcgc ggggagcggg ccaccggtcc tgccgctctc ctggggcagc gcagtcctgt
     1501 tacctgtggg tggcctgtcc caggggcctc gcttccccca ggggactcgc cttctctctc
     1561 cccaaggggt tccctcctcc tctctcccaa ggagtgcttc tccagggacc tctctccggg
     1621 ggctccctgg aggcacccct cccccattcc caatatcttc gctgaggttt cctcctcccc
     1681 ctcctccctg caggcccaag gcgttggtaa gggggcagct gagcaatgga acgcgtttcc
     1741 ccctctcatt attattttaa aaacagacac ccagctgccg aggcaaaaag gagccaggcg
     1801 ctccctcttt cttgaagagg gtagaagtta gggcgccgga gcccgggcct ggaacgccct
     1861 cacccccaac ctccagtctc cgcgttttgc gattttaatt ttggcgggag gggaagtgga
     1921 ttgagaggaa agagagaggc caagacaatt tgtaactaga atccgttttt cccttttcct
     1981 ttttttaaac aaacaaacat acaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2041 aagctaagag gcgacggaag ccgaacgcag agtccggatc ggagagaaaa cgcagtaagg
     2101 acttttagaa gcaataaaag gcaaaaaaaa caaaaaacaa aaaaacaaac aaaaaaaaac
     2161 cactactacc aataatcaaa gacacaaata tctatgcaag gaggctccac tgagcctcgc
     2221 ggcccggccc ggccccggga tgccccgccc ggcctgcggg ccgccccgcc cgagcgcgga
     2281 tctgtgcact ttggtgaagt gggggcccgc gccgccccct ccccctcccc aggttcttac
     2341 aatcagtgac tcggagattt ggggccccag tgccactgcc ctcccccgcc ccgtccccgt
     2401 tgtgcgtcat gctgtttttt aaaaacctgt ttccaaattt gtatggaatg gcaaactgtt
     2461 ggggggtcgg tttggggagg gagggtttgc atgaaagaca cacgcacacc acaccgcacg
     2521 cacaagcagg cccggcgccg gcgtccgggg ggcagaagga ggtgagctcg ccggctcctc
     2581 ctccccgcgg ccattctgtc ccctcctggg gtgaggggtg gggatggaga cctgggggca
     2641 gccccacccc tgcccggact gtgcctcggt gggtgccacc tggcgatttc cggtgtctgg
     2701 agagagtatt ttttggtcca aggagtcctc ttggctttag ctggtgggtg ggcggggaga
     2761 ggtctgaggg ctcctactgg aggttccccc aaaaaggggc aaaaggagac cctctgccca
     2821 ccggaggcag gggatcaggc atccaaatac acgatgcaaa aatgcaatcc cacaggcgac
     2881 acacccacac actcacccac acacacgcaa ttttaccttc ctcttgtagc gaagatgaaa
     2941 ctcccgtcgg acacccgaag tgcattgcgt gtttctgttc agtttaatga cgattaataa
     3001 atatttatgt aaatgagatg caaagccgga
//
