LOCUS       NM_001375392            4777 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens EBF transcription factor 3 (EBF3), transcript variant
            7, mRNA.
ACCESSION   NM_001375392
VERSION     NM_001375392.1
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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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 4777)
  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##
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
            1852-2049           AL354950.8         20320-20517         c
            2050-4777           AL354950.8         15308-18035         c
FEATURES             Location/Qualifiers
     source          1..4777
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..4777
                     /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..2081
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="isoform 7 is encoded by transcript variant 7;
                     transcription factor COE3; olf-1/EBF-like 2; early B cell
                     factor 3"
                     /codon_start=1
                     /product="transcription factor COE3 isoform 7"
                     /protein_id="NP_001362321.1"
                     /db_xref="GeneID:253738"
                     /db_xref="HGNC:HGNC:19087"
                     /db_xref="MIM:607407"
                     /translation="MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQ
                     SGVGLARAHFEKQPPSNLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNE
                     KTNNGIHYKLQLLYSNGVRTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIM
                     CSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTT
                     VNVDGHVLAVSDNMFVHNNSKHGRRARRLDPSEATPCIKAISPSEGWTTGGATVIIIG
                     DNFFDGLQVVFGTMLVWSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRF
                     VYTALNEPTIDYGFQRLQKVIPRHPGDPERLPKEVLLKRAADLVEALYGMPHNNQEII
                     LKRAADIAEALYSVPRNHNQIPTLGNNPAHTGMMGVNSFSSQLAVNVSETSQANDQVV
                     PSSPTMAASSVTLPSNCSSTHGIFSFSPANVISAVKQKSAFAPVVRPQASPPPSCTSA
                     NGNGLQAMSGLVVPPM"
     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..2049
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2050..4777
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3714..3719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: AATAAA"
     polyA_site      3745
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="major polyA site"
     regulatory      4700..4705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4728
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="major polyA site"
     regulatory      4757..4762
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4777
                     /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 gtagtgccgt
     1861 ccagccccac catggcagcc tcttcggtca ccctcccttc aaactgtagc agcacacacg
     1921 gcattttctc attctcacct gccaatgtca tctccgcagt gaaacagaag agcgccttcg
     1981 cgcccgtggt ccggccccaa gcctctcctc ctccttcctg caccagcgcc aacgggaatg
     2041 gactgcaagc tatgtctggg ctggtagtcc cgccaatgtg agggacttct gtttaccttc
     2101 cgcagcaccc agcatcaaag gacggacttc aggggacacg tttagtatat taagacatgc
     2161 tgatggaaac agtatcttca aaaaaatcag cagcaattga aatgctacaa aagactttgt
     2221 ttaaagattt tatttaaact attaagaatc aacatgcaaa cagcctactt cttcatgaac
     2281 aattccattt tattgactga acttttctca tattttcaca tttctcagtc ctgaagaata
     2341 aggaaaacaa agcgacgcct attttgtata aagtttccga ctccgtcttg gccatgtcta
     2401 gtaattgcta tgtgttggga gaaactttgt gaatgcacca ttttgatgat catgaaacgc
     2461 tgatgaaaaa tgcctccaaa catttttctg tactcatact tagattcaca atggttgtgt
     2521 atctctataa tgtgaaatat ttttttgtgg tgataaaaag agggccaagg aggtatgagc
     2581 catcagactg gaaaaaagga tgactatatg atgaggagaa actggggtgg cagggaggga
     2641 gggagggttt atcactgctt aacttcatct tcatgaaatg aaactttgta acttattgta
     2701 gttagaaatt gtaactttga tattgaattc tcttgccttc aacaagcaca ctgacagaga
     2761 aaaaatgcta ctgtctgttg gttccaatat tctcccactg ctagagcttc ctgttaagca
     2821 agtgtgatct gcaacatttt ttcaactttt gctagcactg tatactattg cattcttagg
     2881 ctactgtgag gtctatgttt cttgtaccag aaattgtcct tttgacttct agatccttct
     2941 tccctaatgt gttttgtatg tggttataaa attgtagact tttgtgattt tgccaaagtt
     3001 gtagctaaat atttatacac ttgtcttgaa tttttttcag atccacttaa aatatttaga
     3061 aaaacaagtt ttattcctta tgtgtcttat aaggaataaa atggtcttca tttgacactt
     3121 actttcccat gaacacttgc agttgctaag ggactttatt ttgtaacata tcaattataa
     3181 atattgtatt tatctttgaa attttgtaca ttgcttttcc caccttttcc tttttcttct
     3241 ttcttgtctg tattggtttt tgatcacggc ctggtgttgt gatactggga agagcattag
     3301 ccaagaactt gtctctttga tctgtttcgt taagctgaac cagtgtcttt acatttcatt
     3361 tgtacttcaa aaaatatgct attgtttaga ctttccatcc tttttttttt tattttgagg
     3421 aaaagtcaaa ttcattgttt atttttatat tatttttaag ttatctgaac aaatactttt
     3481 gaaaaaaaag tttgttgtat agtcaaaaca aatcggtgcc acccggccgt gacaaatcct
     3541 agtagattct gtgcatgtgg agcggccgcg aagaggtgac accgtttggg gctgtgtcct
     3601 tattttattt tatttttttg tagaatgtaa aaagtcattt tagatgccac ccattgactt
     3661 tgccacatag ctgaactgtg tttactggaa aaattcagag gcctaaagtt taaaataaaa
     3721 tttacttctg atgttttaat taaaatgttt gccacattaa cttttctgat gccttaaaag
     3781 tgaacttctt taaagaacct ttgtgctatt ttatcacagg cttacactac aattgttaat
     3841 aaatacttca tttggagatg tatggtgtaa aacacacaaa cacacacaaa aaagcacaag
     3901 cccgctgcat gacccgtctc tcctttctgg gactatttct gctgcgtcct gcaccctcct
     3961 gggcccacct ccgattcaca gaggtttcag ggggacccaa atcactgctg gttttcaatt
     4021 tttttttaac aatacatttt tgtggtcagt tccaacagca ctgtccgtac ttttaaaact
     4081 ggaatgacct ccttcagata tcgtgcctct tagtgccaaa cccacagtga gaccaaaagt
     4141 gtcaggtgtt tttttttttt tctttctcct ttgcactaag tgctttgcag acacggcaca
     4201 gcaaacattt tgcaaactgc agcagaaatc gaatttaaaa caaaaaggag ggactttaaa
     4261 ataccttctt gacaaaaatc aacaatgcac aacttacaaa gtgttcattc tagggacaaa
     4321 attaaataaa cagaatgtcc ccaggagtca gcaggtcaca gtctggcttt gtgatggttg
     4381 acaaggtcta gctacatggg aaagcctgag aagtcacttt ggaactaaat tgcctccatt
     4441 ttattttgta cgagtaaggg tttgatctac aaaagagctc acatggacgc actgagaacg
     4501 cctgccagct tccccatgcc ctcacttggt ttgtgtttta ggttaagtag tcaatgccca
     4561 catcacttca ctgtctcaag actgagcact tcactaaatg gtagatttta ctgttaaaga
     4621 ccctacaata agattgtttt atctgtacat tttttcagat atttaactgt ataaaaatgt
     4681 tcattttaca caatatttaa ttaaagtatt tcttgtctgt gaatttcact tttggtaatt
     4741 ttctctgttt ttgattatta aaatgactaa acactaa
//
