LOCUS       NM_001375390            4971 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens EBF transcription factor 3 (EBF3), transcript variant
            4, mRNA.
ACCESSION   NM_001375390
VERSION     NM_001375390.1
KEYWORDS    RefSeq.
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 4971)
  AUTHORS   Hu,W., Wang,M., Sun,G., Zhang,L. and Lu,H.
  TITLE     Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through
            directly regulating contactin-associated protein-like 4 (CNTNAP4)
            transcription: An experimental study
  JOURNAL   Cell Signal 118, 111139 (2024)
   PUBMED   38479556
  REMARK    GeneRIF: Early B Cell Factor 3 (EBF3) attenuates Parkinson's
            disease through directly regulating contactin-associated
            protein-like 4 (CNTNAP4) transcription: An experimental study.
REFERENCE   2  (bases 1 to 4971)
  AUTHORS   Deisseroth,C.A., Lerma,V.C., Magyar,C.L., Pfliger,J.M., Nayak,A.,
            Bliss,N.D., LeMaire,A.W., Narayanan,V., Balak,C., Zanni,G.,
            Valente,E.M., Bertini,E., Benke,P.J., Wangler,M.F. and Chao,H.T.
  TITLE     An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk
            Subtype Association for EBF3 Missense Variants Affecting the Zinc
            Finger Domain
  JOURNAL   Ann Neurol 92 (1), 138-153 (2022)
   PUBMED   35340043
  REMARK    GeneRIF: An Integrated Phenotypic and Genotypic Approach Reveals a
            High-Risk Subtype Association for EBF3 Missense Variants Affecting
            the Zinc Finger Domain.
REFERENCE   3  (bases 1 to 4971)
  AUTHORS   Ignatius,E., Puosi,R., Palomaki,M., Forsbom,N., Pohjanpelto,M.,
            Alitalo,T., Anttonen,A.K., Avela,K., Haataja,L., Carroll,C.J.,
            Lonnqvist,T. and Isohanni,P.
  TITLE     Duplication/triplication mosaicism of EBF3 and expansion of the
            EBF3 neurodevelopmental disorder phenotype
  JOURNAL   Eur J Paediatr Neurol 37, 1-7 (2022)
   PUBMED   34999443
  REMARK    GeneRIF: Duplication/triplication mosaicism of EBF3 and expansion
            of the EBF3 neurodevelopmental disorder phenotype.
REFERENCE   4  (bases 1 to 4971)
  AUTHORS   Kim,J., Min,S.Y., Lee,H.E. and Kim,W.H.
  TITLE     Aberrant DNA methylation and tumor suppressive activity of the EBF3
            gene in gastric carcinoma
  JOURNAL   Int J Cancer 130 (4), 817-826 (2012)
   PUBMED   21387304
  REMARK    GeneRIF: EBF3 tumor suppressor is epigenetically silenced and that
            it serves as an independent prognostic marker in gastric carcinoma.
REFERENCE   5  (bases 1 to 4971)
  AUTHORS   Liao,D.
  TITLE     Emerging roles of the EBF family of transcription factors in tumor
            suppression
  JOURNAL   Mol Cancer Res 7 (12), 1893-1901 (2009)
   PUBMED   19996307
  REMARK    Review article
REFERENCE   6  (bases 1 to 4971)
  AUTHORS   Mao,L.P., Wang,H.M., Wang,Y.G. and Wang,X.Y.
  TITLE     [Construction of eukaryotic expression vector for EBF3 and EGFP
            fusion protein and its expression in HepG2 cells]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 24 (10), 954-957 (2008)
   PUBMED   18845077
  REMARK    GeneRIF: Findings suggested that the transfection of EBF3 gene into
            HepG2 induced the cell proliferation from G1 phase to G2 phase by
            increasing the number of cells.
REFERENCE   7  (bases 1 to 4971)
  AUTHORS   Bennett,K.L., Karpenko,M., Lin,M.T., Claus,R., Arab,K.,
            Dyckhoff,G., Plinkert,P., Herpel,E., Smiraglia,D. and Plass,C.
  TITLE     Frequently methylated tumor suppressor genes in head and neck
            squamous cell carcinoma
  JOURNAL   Cancer Res 68 (12), 4494-4499 (2008)
   PUBMED   18559491
  REMARK    GeneRIF: Frequent methylation of EBF3 gene is associated with head
            and neck squamous cell carcinoma
REFERENCE   8  (bases 1 to 4971)
  AUTHORS   Zhao,L.Y., Niu,Y., Santiago,A., Liu,J., Albert,S.H., Robertson,K.D.
            and Liao,D.
  TITLE     An EBF3-mediated transcriptional program that induces cell cycle
            arrest and apoptosis
  JOURNAL   Cancer Res 66 (19), 9445-9452 (2006)
   PUBMED   17018599
  REMARK    GeneRIF: Expression of EBF3 resulted in cell cycle arrest and
            apoptosis. EBF3 regulates a transcriptional program underlying a
            putative tumor suppression pathway.
REFERENCE   9  (bases 1 to 4971)
  AUTHORS   Zardo,G., Tiirikainen,M.I., Hong,C., Misra,A., Feuerstein,B.G.,
            Volik,S., Collins,C.C., Lamborn,K.R., Bollen,A., Pinkel,D.,
            Albertson,D.G. and Costello,J.F.
  TITLE     Integrated genomic and epigenomic analyses pinpoint biallelic gene
            inactivation in tumors
  JOURNAL   Nat Genet 32 (3), 453-458 (2002)
   PUBMED   12355068
REFERENCE   10 (bases 1 to 4971)
  AUTHORS   Narayanan,D.L., Kutsche,K. and Girisha,K.M.
  TITLE     EBF3 Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33956416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354950.8.
            
            Summary: This gene encodes a member of the early B-cell factor
            (EBF) family of DNA binding transcription factors. EBF proteins are
            involved in B-cell differentiation, bone development and
            neurogenesis, and may also function as tumor suppressors. The
            encoded protein inhibits cell survival through the regulation of
            genes involved in cell cycle arrest and apoptosis, and aberrant
            methylation or deletion of this gene may play a role in multiple
            malignancies including glioblastoma multiforme and gastric
            carcinoma. [provided by RefSeq, Sep 2011].
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-640               AL354950.8         143710-144349       c
            641-797             AL354950.8         143442-143598       c
            798-861             AL354950.8         143017-143080       c
            862-917             AL354950.8         142246-142301       c
            918-991             AL354950.8         139009-139082       c
            992-1060            AL354950.8         137333-137401       c
            1061-1142           AL354950.8         57843-57924         c
            1143-1260           AL354950.8         53554-53671         c
            1261-1391           AL354950.8         47857-47987         c
            1392-1518           AL354950.8         47216-47342         c
            1519-1607           AL354950.8         28467-28555         c
            1608-1673           AL354950.8         23212-23277         c
            1674-1851           AL354950.8         22191-22368         c
            1852-2040           AL354950.8         20919-21107         c
            2041-2130           AL354950.8         20320-20409         c
            2131-2243           AL354950.8         19158-19270         c
            2244-4971           AL354950.8         15308-18035         c
FEATURES             Location/Qualifiers
     source          1..4971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..4971
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="EBF transcription factor 3"
                     /db_xref="GeneID:253738"
                     /db_xref="HGNC:HGNC:19087"
                     /db_xref="MIM:607407"
     exon            1..640
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             507..2261
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="isoform 4 is encoded by transcript variant 4;
                     transcription factor COE3; olf-1/EBF-like 2; early B cell
                     factor 3"
                     /codon_start=1
                     /product="transcription factor COE3 isoform 4"
                     /protein_id="NP_001362319.1"
                     /db_xref="GeneID:253738"
                     /db_xref="HGNC:HGNC:19087"
                     /db_xref="MIM:607407"
                     /translation="MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQ
                     SGVGLARAHFEKQPPSNLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNE
                     KTNNGIHYKLQLLYSNGVRTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIM
                     CSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTT
                     VNVDGHVLAVSDNMFVHNNSKHGRRARRLDPSEATPCIKAISPSEGWTTGGATVIIIG
                     DNFFDGLQVVFGTMLVWSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRF
                     VYTALNEPTIDYGFQRLQKVIPRHPGDPERLPKEVLLKRAADLVEALYGMPHNNQEII
                     LKRAADIAEALYSVPRNHNQIPTLGNNPAHTGMMGVNSFSSQLAVNVSETSQANDQVG
                     YSRNTSSVSPRGYVPSSTPQQSNYNTVSTSMNGYGSGAMASLGVPGSPGFLNGSSANS
                     PYGMKQKSAFAPVVRPQASPPPSCTSANGNGLQGSLLGAEDVAAEKTNWPFCEVGGIF
                     HFDELMLKKGTGKLCLGW"
     exon            641..797
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            798..861
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            862..917
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            918..991
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1060
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1142
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1260
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1391
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1518
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..1607
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1673
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1851
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..2040
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2041..2130
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2131..2243
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..4971
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3908..3913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: AATAAA"
     polyA_site      3939
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="major polyA site"
     regulatory      4894..4899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4922
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="major polyA site"
     regulatory      4951..4956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4971
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
ORIGIN      
        1 attcctcggg gagagagggc tgagttttgt gcgcctccgt ccgctgcgcg cgccgctcca
       61 ggccccgccg cgccccgcct gcgcccggga ctgcgccgca gcactcactg ccccgtttat
      121 ttgtctttgg agcaggcggg ccgcgccaga agcgggcgat cccgcagtgt cctgcagccg
      181 cggacgccgc ctggctagga tgacaccacg ttgagcgcgc ctgcaaacaa caacaacaac
      241 aagcgccgcc gcggccaccg cgtcctgctc cttcgaagcg ccgccgccgc cggtggagcc
      301 gcctccgcgc ccctggccgt ccggagcgcc cggccgctgg tgtatgtcgc gcctgcccgg
      361 gacgggctga agccggcggc ggggccggac cgcaggcgcc gagcagggcg agggcggcca
      421 gggcagccgc ctgccgccaa gccccgagcg ccgctgctcg aggaaacgct ttcggccggg
      481 agctgcggcc gccgccagca gttttcatgt ttgggattca ggagaatatt ccgcgcgggg
      541 ggacgaccat gaaggaggag ccgctgggca gcggcatgaa cccggtgcgc tcgtggatgc
      601 acacggcggg cgtggtggac gccaacacgg ccgcccagag cggcgtgggg ctggcgcggg
      661 cgcacttcga gaagcagccg ccttccaacc tccggaaatc caatttcttc cacttcgtgc
      721 tggcgctcta cgataggcag gggcagccgg tggagattga aaggaccgct tttgtggact
      781 ttgtggagaa agagaaagag ccaaacaacg agaaaaccaa caacggcatc cactataaac
      841 tccagttatt gtacagcaac ggagtcagaa cagagcaaga tctgtatgtt cgcctcatag
      901 attcaatgac caaacaggcc atcgtctacg agggccagga caagaacccg gagatgtgcc
      961 gtgtgctgct gacccacgag atcatgtgca gccggtgctg tgacaagaaa agttgtggca
     1021 atagaaacga aacgccctca gaccctgtaa tcattgacag attctttcta aagtttttcc
     1081 tcaagtgcaa tcagaactgt ttgaagaatg caggcaaccc tcgagatatg cggagattcc
     1141 aggttgttgt atcgacaaca gtcaacgtgg acggccacgt gctggccgtg tcagacaaca
     1201 tgtttgtgca caacaattcc aaacacggga ggcgggcccg ccgcctagac ccgtcagaag
     1261 ccactccgtg catcaaggcc atcagtccca gtgaaggctg gaccacgggg ggtgccaccg
     1321 tcatcataat tggcgacaac ttctttgacg ggctgcaagt tgtattcgga actatgttgg
     1381 tgtggagcga gctgataact ccccatgcca tccgagtcca gaccccgccg aggcacattc
     1441 ctggcgtcgt cgaagtgacc ctctcctaca aatccaagca gttctgcaaa ggtgctcctg
     1501 ggcgctttgt ctacaccgcc cttaatgaac caaccataga ttacggcttt cagaggttgc
     1561 agaaagtgat cccaagacat ccgggtgatc ccgaaaggtt acccaaggag gtgttactga
     1621 agcgggcggc ggacctggtg gaagccttat acggaatgcc tcacaacaac caggagatca
     1681 tcttgaagcg agcggcggac atcgccgagg cgctgtacag cgttccccgc aatcacaacc
     1741 agatccccac cctgggcaac aaccctgcac acacgggcat gatgggcgtc aactccttca
     1801 gcagccagct agccgtcaac gtgtcagaga cgtcacaagc caacgaccaa gtcggctaca
     1861 gtcgcaatac aagcagcgtg tccccgcgag gctacgtccc cagcagtact ccccagcagt
     1921 ccaattacaa cacagtcagc actagcatga atggatatgg aagtggcgcc atggccagtc
     1981 taggggtccc tggctcgcct ggatttctta atggctcctc cgctaactct ccctacggca
     2041 tgaaacagaa gagcgccttc gcgcccgtgg tccggcccca agcctctcct cctccttcct
     2101 gcaccagcgc caacgggaat ggactgcaag gctctctgct gggtgctgag gacgtagccg
     2161 cggagaagac aaactggccc ttttgtgaag tcggtggcat atttcacttt gatgaactaa
     2221 tgctcaaaaa aggaactgga aagctatgtc tgggctggta gtcccgccaa tgtgagggac
     2281 ttctgtttac cttccgcagc acccagcatc aaaggacgga cttcagggga cacgtttagt
     2341 atattaagac atgctgatgg aaacagtatc ttcaaaaaaa tcagcagcaa ttgaaatgct
     2401 acaaaagact ttgtttaaag attttattta aactattaag aatcaacatg caaacagcct
     2461 acttcttcat gaacaattcc attttattga ctgaactttt ctcatatttt cacatttctc
     2521 agtcctgaag aataaggaaa acaaagcgac gcctattttg tataaagttt ccgactccgt
     2581 cttggccatg tctagtaatt gctatgtgtt gggagaaact ttgtgaatgc accattttga
     2641 tgatcatgaa acgctgatga aaaatgcctc caaacatttt tctgtactca tacttagatt
     2701 cacaatggtt gtgtatctct ataatgtgaa atattttttt gtggtgataa aaagagggcc
     2761 aaggaggtat gagccatcag actggaaaaa aggatgacta tatgatgagg agaaactggg
     2821 gtggcaggga gggagggagg gtttatcact gcttaacttc atcttcatga aatgaaactt
     2881 tgtaacttat tgtagttaga aattgtaact ttgatattga attctcttgc cttcaacaag
     2941 cacactgaca gagaaaaaat gctactgtct gttggttcca atattctccc actgctagag
     3001 cttcctgtta agcaagtgtg atctgcaaca ttttttcaac ttttgctagc actgtatact
     3061 attgcattct taggctactg tgaggtctat gtttcttgta ccagaaattg tccttttgac
     3121 ttctagatcc ttcttcccta atgtgttttg tatgtggtta taaaattgta gacttttgtg
     3181 attttgccaa agttgtagct aaatatttat acacttgtct tgaatttttt tcagatccac
     3241 ttaaaatatt tagaaaaaca agttttattc cttatgtgtc ttataaggaa taaaatggtc
     3301 ttcatttgac acttactttc ccatgaacac ttgcagttgc taagggactt tattttgtaa
     3361 catatcaatt ataaatattg tatttatctt tgaaattttg tacattgctt ttcccacctt
     3421 ttcctttttc ttctttcttg tctgtattgg tttttgatca cggcctggtg ttgtgatact
     3481 gggaagagca ttagccaaga acttgtctct ttgatctgtt tcgttaagct gaaccagtgt
     3541 ctttacattt catttgtact tcaaaaaata tgctattgtt tagactttcc atcctttttt
     3601 tttttatttt gaggaaaagt caaattcatt gtttattttt atattatttt taagttatct
     3661 gaacaaatac ttttgaaaaa aaagtttgtt gtatagtcaa aacaaatcgg tgccacccgg
     3721 ccgtgacaaa tcctagtaga ttctgtgcat gtggagcggc cgcgaagagg tgacaccgtt
     3781 tggggctgtg tccttatttt attttatttt tttgtagaat gtaaaaagtc attttagatg
     3841 ccacccattg actttgccac atagctgaac tgtgtttact ggaaaaattc agaggcctaa
     3901 agtttaaaat aaaatttact tctgatgttt taattaaaat gtttgccaca ttaacttttc
     3961 tgatgcctta aaagtgaact tctttaaaga acctttgtgc tattttatca caggcttaca
     4021 ctacaattgt taataaatac ttcatttgga gatgtatggt gtaaaacaca caaacacaca
     4081 caaaaaagca caagcccgct gcatgacccg tctctccttt ctgggactat ttctgctgcg
     4141 tcctgcaccc tcctgggccc acctccgatt cacagaggtt tcagggggac ccaaatcact
     4201 gctggttttc aatttttttt taacaataca tttttgtggt cagttccaac agcactgtcc
     4261 gtacttttaa aactggaatg acctccttca gatatcgtgc ctcttagtgc caaacccaca
     4321 gtgagaccaa aagtgtcagg tgtttttttt tttttctttc tcctttgcac taagtgcttt
     4381 gcagacacgg cacagcaaac attttgcaaa ctgcagcaga aatcgaattt aaaacaaaaa
     4441 ggagggactt taaaatacct tcttgacaaa aatcaacaat gcacaactta caaagtgttc
     4501 attctaggga caaaattaaa taaacagaat gtccccagga gtcagcaggt cacagtctgg
     4561 ctttgtgatg gttgacaagg tctagctaca tgggaaagcc tgagaagtca ctttggaact
     4621 aaattgcctc cattttattt tgtacgagta agggtttgat ctacaaaaga gctcacatgg
     4681 acgcactgag aacgcctgcc agcttcccca tgccctcact tggtttgtgt tttaggttaa
     4741 gtagtcaatg cccacatcac ttcactgtct caagactgag cacttcacta aatggtagat
     4801 tttactgtta aagaccctac aataagattg ttttatctgt acattttttc agatatttaa
     4861 ctgtataaaa atgttcattt tacacaatat ttaattaaag tatttcttgt ctgtgaattt
     4921 cacttttggt aattttctct gtttttgatt attaaaatga ctaaacacta a
//
