LOCUS       NM_002700               2575 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.
ACCESSION   NM_002700
VERSION     NM_002700.3
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 2575)
  AUTHORS   Lee,S.Y., Kim,M.Y., Han,J.H., Park,S.S., Yun,Y., Jee,S.C.,
            Han,J.J., Lee,J.H., Seok,H. and Choi,B.Y.
  TITLE     Ramifications of POU4F3 variants associated with autosomal dominant
            hearing loss in various molecular aspects
  JOURNAL   Sci Rep 13 (1), 12584 (2023)
   PUBMED   37537203
  REMARK    GeneRIF: Ramifications of POU4F3 variants associated with autosomal
            dominant hearing loss in various molecular aspects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2575)
  AUTHORS   Singh,S., Penney,C., Griffin,A., Woodland,G., Werdyani,S.,
            Benteau,T.A., Abdelfatah,N., Squires,J., King,B., Houston,J.,
            Dyer,M.J., Roslin,N.M., Vincent,D., Marquis,P., O'Rielly,D.D.,
            Hodgkinson,K., Burt,T., Baker,A., Stanton,S.G. and Young,T.L.
  TITLE     Highly variable hearing loss due to POU4F3 (c.37del) is revealed by
            longitudinal, frequency specific analyses
  JOURNAL   Eur J Hum Genet 31 (7), 815-823 (2023)
   PUBMED   37072551
  REMARK    GeneRIF: Highly variable hearing loss due to POU4F3 (c.37del) is
            revealed by longitudinal, frequency specific analyses.
REFERENCE   3  (bases 1 to 2575)
  AUTHORS   Bai,D., Zhang,X., Li,Y., Ni,J. and Lan,K.
  TITLE     A Missense POU4F3 Variant Associated with Autosomal Dominant
            Midfrequency Hearing Loss Alters Subnuclear Localization and
            Transcriptional Capabilities
  JOURNAL   Biomed Res Int 2021, 5574136 (2021)
   PUBMED   34250087
  REMARK    GeneRIF: A Missense POU4F3 Variant Associated with Autosomal
            Dominant Midfrequency Hearing Loss Alters Subnuclear Localization
            and Transcriptional Capabilities.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2575)
  AUTHORS   Cui,T.Y., Gao,X., Huang,S.S., Sun,Y.Y., Zhang,S.Q., Jiang,X.X.,
            Yang,Y.Z., Kang,D.Y., Zhu,Q.W. and Yuan,Y.Y.
  TITLE     Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic
            Hearing Loss
  JOURNAL   Neural Plast 2020, 6137083 (2020)
   PUBMED   32684921
  REMARK    GeneRIF: Four Novel Variants in POU4F3 Cause Autosomal Dominant
            Nonsyndromic Hearing Loss.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2575)
  AUTHORS   Bai,X., Zhang,F., Xiao,Y., Jin,Y., Zheng,Q., Wang,H. and Xu,L.
  TITLE     Identification of two novel mutations in POU4F3 gene associated
            with autosomal dominant hearing loss in Chinese families
  JOURNAL   J Cell Mol Med 24 (12), 6978-6987 (2020)
   PUBMED   32390314
  REMARK    GeneRIF: Identification of two novel mutations in POU4F3 gene
            associated with autosomal dominant hearing loss in Chinese
            families.
REFERENCE   6  (bases 1 to 2575)
  AUTHORS   Leonard,J.H., Cook,A.L., Van Gele,M., Boyle,G.M., Inglis,K.J.,
            Speleman,F. and Sturm,R.A.
  TITLE     Proneural and proneuroendocrine transcription factor expression in
            cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma
  JOURNAL   Int J Cancer 101 (2), 103-110 (2002)
   PUBMED   12209986
  REMARK    GeneRIF: Proneural and proneuroendocrine transcription factor
            expression in cutaneous mechanoreceptor (Merkel) cells and Merkel
            cell carcinoma
            Erratum:[Int J Cancer. 2004 Dec 20;112(6):1086]
REFERENCE   7  (bases 1 to 2575)
  AUTHORS   Vahava,O., Morell,R., Lynch,E.D., Weiss,S., Kagan,M.E., Ahituv,N.,
            Morrow,J.E., Lee,M.K., Skvorak,A.B., Morton,C.C., Blumenfeld,A.,
            Frydman,M., Friedman,T.B., King,M.C. and Avraham,K.B.
  TITLE     Mutation in transcription factor POU4F3 associated with inherited
            progressive hearing loss in humans
  JOURNAL   Science 279 (5358), 1950-1954 (1998)
   PUBMED   9506947
REFERENCE   8  (bases 1 to 2575)
  AUTHORS   Erkman,L., McEvilly,R.J., Luo,L., Ryan,A.K., Hooshmand,F.,
            O'Connell,S.M., Keithley,E.M., Rapaport,D.H., Ryan,A.F. and
            Rosenfeld,M.G.
  TITLE     Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and
            visual system development
  JOURNAL   Nature 381 (6583), 603-606 (1996)
   PUBMED   8637595
REFERENCE   9  (bases 1 to 2575)
  AUTHORS   Xiang,M., Zhou,L., Macke,J.P., Yoshioka,T., Hendry,S.H., Eddy,R.L.,
            Shows,T.B. and Nathans,J.
  TITLE     The Brn-3 family of POU-domain factors: primary structure, binding
            specificity, and expression in subsets of retinal ganglion cells
            and somatosensory neurons
  JOURNAL   J Neurosci 15 (7 Pt 1), 4762-4785 (1995)
   PUBMED   7623109
REFERENCE   10 (bases 1 to 2575)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011396.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002700.2.
            
            Summary: This gene encodes a member of the POU-domain family of
            transcription factors. POU-domain proteins have been observed to
            play important roles in control of cell identity in several
            systems. This protein is found in the retina and may play a role in
            determining or maintaining the identities of a small subset of
            visual system neurons. Defects in this gene are the cause of
            non-syndromic sensorineural deafness autosomal dominant type 15.
            [provided by RefSeq, Mar 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC112207.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646991.2/ ENSP00000495718.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-394               AC011396.4         77453-77846         c
            395-2575            AC011396.4         74957-77137         c
FEATURES             Location/Qualifiers
     source          1..2575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..2575
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /note="POU class 4 homeobox 3"
                     /db_xref="GeneID:5459"
                     /db_xref="HGNC:HGNC:9220"
                     /db_xref="MIM:602460"
     exon            1..394
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1291
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /note="brn-3C; brain-3C; brain-specific homeobox/POU
                     domain protein 3C; deafness, autosomal dominant 42"
                     /codon_start=1
                     /product="POU domain, class 4, transcription factor 3"
                     /protein_id="NP_002691.1"
                     /db_xref="CCDS:CCDS4281.1"
                     /db_xref="GeneID:5459"
                     /db_xref="HGNC:HGNC:9220"
                     /db_xref="MIM:602460"
                     /translation="MMAMNSKQPFGMHPVLQEPKFSSLHSGSEAMRRVCLPAPQLQGN
                     IFGSFDESLLARAEALAAVDIVSHGKNHPFKPDATYHTMSSVPCTSTSSTVPISHPAA
                     LTSHPHHAVHQGLEGDLLEHISPTLSVSGLGAPEHSVMPAQIHPHHLGAMGHLHQAMG
                     MSHPHTVAPHSAMPACLSDVESDPRELEAFAERFKQRRIKLGVTQADVGAALANLKIP
                     GVGSLSQSTICRFESLTLSHNNMIALKPVLQAWLEEAEAAYREKNSKPELFNGSERKR
                     KRTSIAAPEKRSLEAYFAIQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKY
                     SAVH"
     exon            395..2575
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2549..2554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /note="hexamer: AATAAA"
     polyA_site      2575
                     /gene="POU4F3"
                     /gene_synonym="BRN3C; DFNA15; DFNA42; DFNA52"
                     /note="major polyA site"
ORIGIN      
        1 gggcgcagaa aggcgcgccg ctagctgctg tctctcctca cctcccgggc cgcccctgcg
       61 agtccccggc gcgtgagcac gcctgcgcgc gcccgggccc ttcctggcag gctgcttgta
      121 agatgagtga agaagcaggt gggggagagg ggaggcagcg agcgagaggg cgaggggagc
      181 gcgggcgctg agcagcgctc acttggagag cggcaagcaa gctagacaag cctgattcca
      241 tgtcacccgc tgccaccctg ccaggagcgc gaagatgatg gccatgaact ccaagcagcc
      301 tttcggcatg cacccggtgc tgcaagaacc caaattctcc agtctgcact ctggctccga
      361 ggccatgcgc cgagtctgtc tcccagcccc gcagctgcag ggtaatatat ttggaagctt
      421 tgatgagagc ctgctggcac gcgccgaagc tctggcggcg gtggatatcg tctcccacgg
      481 caagaaccat ccgttcaagc ccgacgccac ctaccatacc atgagcagcg tgccctgcac
      541 gtccacttcg tccaccgtgc ccatctccca cccagctgcg ctcacctcac accctcacca
      601 cgccgtgcac cagggcctcg aaggcgacct gctggagcac atctcgccca cgctgagtgt
      661 gagcggcctg ggcgctccgg aacactcggt gatgcccgca cagatccatc cacaccacct
      721 gggcgccatg ggccacctgc accaggccat gggcatgagt cacccgcaca ccgtggcccc
      781 tcatagcgcc atgcctgcat gcctcagcga cgtggagtca gacccgcgcg agctggaagc
      841 cttcgccgag cgcttcaagc agcggcgcat caagctgggg gtgacccagg cggacgtggg
      901 cgcggctctg gctaatctca agatccccgg cgtgggctcg ctgagccaaa gcaccatctg
      961 caggttcgag tctctcactc tctcgcacaa caacatgatc gctctcaagc cggtgctcca
     1021 ggcctggttg gaggaggccg aggccgccta ccgagagaag aacagcaagc cagagctctt
     1081 caacggcagc gaacggaagc gcaaacgcac gtccatcgcg gcgccggaga agcgttcact
     1141 cgaggcctat ttcgctatcc agccacgtcc ttcatctgag aagatcgcgg ccatcgctga
     1201 gaaactggac cttaaaaaga acgtggtgag agtctggttc tgcaaccaga gacagaaaca
     1261 gaaacgaatg aagtattcgg ctgtccactg attgcggcag ggcgcagcgt cgggagccgg
     1321 gagagcctag tgctcatccc tcccgggttc gggggatggt tatcgggaac tccaaggcgt
     1381 ttcctaggca ggttaggctc tctcctccga agccacagac tttccccctt tgtcccgcct
     1441 ggttgcctcc ggccttctct ctctttcctt tctattccca ccaaaaaaat tttggcgctg
     1501 ggaaaatatt gcagaagggc gggcctgagt gtacttgtgc tgtccgtggt gctgaaattt
     1561 gccctcgcgc aggggccgca cgacttcaga gcaggagccc caaagcagag gacagtcaat
     1621 tggcccaacc gcccgaagct agggtgaaaa tgccactttg ctaagcgcga ttaggcaaag
     1681 ggtgaaggga taaaaaggaa gtgatcaata ataacacaaa gtctaggata tctaaggggg
     1741 acacaaacat gcactggaga tttattagag tatataaaat acatgtatgt ttccaaagga
     1801 tagccttata ctcccttcct tgcctaaatt ctattcacct tatcctttgg tttggcgtaa
     1861 attctcataa ggtagcatga agattaggtt cagggaaagt atgcagggag ttgcgggctc
     1921 caagttgcca ttttttcgtg gtaagtaggg ctccaaaaca ggtgggccca gtctggcgac
     1981 tgaaaattct gggatcgctt ggctgtttgt aatcagctgc cagcaccagc tctggccatc
     2041 tttcactacc tactggtgtt tgaggggtaa ttactgcttg ctggagagcg ggagtttgta
     2101 gtattcataa ccgttgagga ctctctgacc ccagctcgct gctcttgcca gattgccagc
     2161 tcagcgtgca gtcggctgct ggaaaacgac tgtaacttct ctgcattata tgcaagtcct
     2221 ttcaacacgt ctaacctcct tgcacttttg ttattactgt tgttgttaac atcgttcatt
     2281 actattattt atttaattct gcttctttcc attcccttta tgtgggtgtc tttcggtgga
     2341 agttcactta tagttttgtg agggaagagg agtgggacca tgggcctgaa cccttctcac
     2401 cctgcccctc tagcccaaat tttattttat tttttcgttg tttcatgtag tttgtgtgtt
     2461 gctgtgtgac ctttggtttc attctctgaa tagatacaaa taaaatatta agttttcttt
     2521 tccctttacc ccttgaatta acttctaaaa taaatgcttt atttttcaac ccgaa
//
