LOCUS       NM_004700               4324 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily Q member 4
            (KCNQ4), transcript variant 1, mRNA.
ACCESSION   NM_004700 XM_001132376
VERSION     NM_004700.4
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 4324)
  AUTHORS   Ren,L., Wu,J., Kuang,Y., Chen,K., Jiang,M., Zhuo,Z., Cao,Z. and
            Huang,S.
  TITLE     A novel variant c.902C>A (p. A301D) in KCNQ4 associated with
            non-syndromic deafness 2A in a Chinese family
  JOURNAL   Mol Genet Genomic Med 12 (7), e2446 (2024)
   PUBMED   38980994
  REMARK    GeneRIF: A novel variant c.902C>A (p. A301D) in KCNQ4 associated
            with non-syndromic deafness 2A in a Chinese family.
REFERENCE   2  (bases 1 to 4324)
  AUTHORS   Zhang,X., Shi,T., Li,J., Wu,X., Wu,K., Li,D., Wang,D., Guan,J. and
            Wang,H.
  TITLE     Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction
            of iPSC and Mouse Model
  JOURNAL   Laryngoscope 134 (5), 2356-2363 (2024)
   PUBMED   37962101
  REMARK    GeneRIF: Natural History of KCNQ4 p.G285S Related Hearing Loss,
            Construction of iPSC and Mouse Model.
REFERENCE   3  (bases 1 to 4324)
  AUTHORS   Zhao,Q., Li,M. and Zhang,Y.
  TITLE     Comprehensive pan-cancer analysis of potassium voltage-gated
            channel Q4 (KCNQ4) gene across multiple human malignant tumors
  JOURNAL   Sci Rep 13 (1), 18608 (2023)
   PUBMED   37903775
  REMARK    GeneRIF: Comprehensive pan-cancer analysis of potassium
            voltage-gated channel Q4 (KCNQ4) gene across multiple human
            malignant tumors.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4324)
  AUTHORS   Oh,K.S., Roh,J.W., Joo,S.Y., Ryu,K., Kim,J.A., Kim,S.J., Jang,S.H.,
            Koh,Y.I., Kim,D.H., Kim,H.Y., Choi,M., Jung,J., Namkung,W.,
            Nam,J.H., Choi,J.Y. and Gee,H.Y.
  TITLE     Overlooked KCNQ4 variants augment the risk of hearing loss
  JOURNAL   Exp Mol Med 55 (4), 844-859 (2023)
   PUBMED   37009795
  REMARK    GeneRIF: Overlooked KCNQ4 variants augment the risk of hearing
            loss.
REFERENCE   5  (bases 1 to 4324)
  AUTHORS   Selyanko,A.A., Hadley,J.K., Wood,I.C., Abogadie,F.C., Jentsch,T.J.
            and Brown,D.A.
  TITLE     Inhibition of KCNQ1-4 potassium channels expressed in mammalian
            cells via M1 muscarinic acetylcholine receptors
  JOURNAL   J Physiol 522 Pt 3 (Pt 3), 349-355 (2000)
   PUBMED   10713961
REFERENCE   6  (bases 1 to 4324)
  AUTHORS   Coucke,P.J., Van Hauwe,P., Kelley,P.M., Kunst,H., Schatteman,I.,
            Van Velzen,D., Meyers,J., Ensink,R.J., Verstreken,M., Declau,F.,
            Marres,H., Kastury,K., Bhasin,S., McGuirt,W.T., Smith,R.J.,
            Cremers,C.W., Van de Heyning,P., Willems,P.J., Smith,S.D. and Van
            Camp,G.
  TITLE     Mutations in the KCNQ4 gene are responsible for autosomal dominant
            deafness in four DFNA2 families
  JOURNAL   Hum Mol Genet 8 (7), 1321-1328 (1999)
   PUBMED   10369879
REFERENCE   7  (bases 1 to 4324)
  AUTHORS   Kubisch,C., Schroeder,B.C., Friedrich,T., Lutjohann,B.,
            El-Amraoui,A., Marlin,S., Petit,C. and Jentsch,T.J.
  TITLE     KCNQ4, a novel potassium channel expressed in sensory outer hair
            cells, is mutated in dominant deafness
  JOURNAL   Cell 96 (3), 437-446 (1999)
   PUBMED   10025409
REFERENCE   8  (bases 1 to 4324)
  AUTHORS   Talebizadeh,Z., Kelley,P.M., Askew,J.W., Beisel,K.W. and Smith,S.D.
  TITLE     Novel mutation in the KCNQ4 gene in a large kindred with dominant
            progressive hearing loss
  JOURNAL   Hum Mutat 14 (6), 493-501 (1999)
   PUBMED   10571947
REFERENCE   9  (bases 1 to 4324)
  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
REFERENCE   10 (bases 1 to 4324)
  AUTHORS   Smith,R.J.H. and Hildebrand,M.
  TITLE     DFNA2 Nonsyndromic Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301388
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC119677.2, AF105202.1,
            DA782056.1, AK074957.1 and CA411644.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004700.3.
            
            Summary: The protein encoded by this gene forms a potassium channel
            that is thought to play a critical role in the regulation of
            neuronal excitability, particularly in sensory cells of the
            cochlea. The current generated by this channel is inhibited by M1
            muscarinic acetylcholine receptors and activated by retigabine, a
            novel anti-convulsant drug. The encoded protein can form a
            homomultimeric potassium channel or possibly a heteromultimeric
            channel in association with the protein encoded by the KCNQ3 gene.
            Defects in this gene are a cause of nonsyndromic sensorineural
            deafness type 2 (DFNA2), an autosomal dominant form of progressive
            hearing loss. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer and predominant isoform (a).
            
            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 :: SRR18074967.3812009.1,
                                           SRR18074969.1414036.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2151887
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347132.10/ ENSP00000262916.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-225               AC119677.2         18751-18975
            226-1083            AF105202.1         1-858
            1084-1490           DA782056.1         151-557
            1491-1671           AF105202.1         1266-1446
            1672-2092           AK074957.1         684-1104
            2093-2560           AF105202.1         1868-2335
            2561-3416           AK074957.1         1573-2428
            3417-3417           AC119677.2         74509-74509
            3418-3783           AK074957.1         2430-2795
            3784-4324           CA411644.1         18-558              c
FEATURES             Location/Qualifiers
     source          1..4324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..4324
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /note="potassium voltage-gated channel subfamily Q member
                     4"
                     /db_xref="GeneID:9132"
                     /db_xref="HGNC:HGNC:6298"
                     /db_xref="MIM:603537"
     exon            1..621
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     CDS             308..2395
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /note="isoform a is encoded by transcript variant 1;
                     potassium channel KQT-like 4; potassium voltage-gated
                     channel subfamily KQT member 4; potassium channel subunit
                     alpha KvLQT4; potassium voltage-gated channel, KQT-like
                     subfamily, member 4; potassium channel, voltage gated
                     KQT-like subfamily Q, member 4"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily KQT
                     member 4 isoform a"
                     /protein_id="NP_004691.2"
                     /db_xref="CCDS:CCDS456.1"
                     /db_xref="GeneID:9132"
                     /db_xref="HGNC:HGNC:6298"
                     /db_xref="MIM:603537"
                     /translation="MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRR
                     LGLLGSPLPPGAPLPGPGSGSGSACGQRSSAAHKRYRRLQNWVYNVLERPRGWAFVYH
                     VFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRY
                     RGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMD
                     RRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWW
                     GTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGSGFALKVQEQHRQKH
                     FEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNG
                     GLRPLEVRRAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKDRIRMGSSQRRTG
                     PSKQHLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTRFRASLRLKPRTSAEDAPS
                     EEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKDVIEQYS
                     AGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSDAEVVDEISMMGRVVKVEK
                     QVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQ
                     TLSISRSVSTNMD"
     exon            622..712
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            713..839
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1015
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1141
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1252
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1348
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1437
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1599
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1820
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1920
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2052
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            2053..2182
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     exon            2183..4324
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4306..4311
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /note="hexamer: ATTAAA"
     polyA_site      4324
                     /gene="KCNQ4"
                     /gene_synonym="DFNA2; DFNA2A; KV7.4"
                     /note="major polyA site"
ORIGIN      
        1 gacatgtgag cggcgcgcgc cggtggcagg tggaaaggcg agcggcatgg agcgcgtaat
       61 aagagagttg gagtcggaaa gagcagcccc agtcgccggg gaagcgggag gtcagtgcgg
      121 gctccggcgg cccccaggct ccgagcgccc gcccgcggcc ccggcccggc ccctagcccc
      181 cgccgcccgc gcccgccccg ggtcgcccct ctggccccgg gtccgagcca tgcgtctctg
      241 agcgccccga gcgcgccccc gccccggacc gtgcccgggc cccggcgccc ccagcccggc
      301 gccgcccatg gccgaggccc ccccgcgccg cctcggcctg ggtcccccgc ccggggacgc
      361 cccccgcgcg gagctagtgg cgctcacggc cgtgcagagc gaacagggcg aggcgggcgg
      421 gggcggctcc ccgcgccgcc tcggcctcct gggcagcccc ctgccgccgg gcgcgcccct
      481 ccctgggccg ggctccggct cgggctccgc ctgcggccag cgctcctcgg ccgcgcacaa
      541 gcgctaccgc cgcctgcaga actgggtcta caacgtgctg gagcggcccc gcggctgggc
      601 cttcgtctac cacgtcttca tatttttgct ggtcttcagc tgcctggtgc tgtctgtgct
      661 gtccactatc caggagcacc aggaacttgc caacgagtgt ctcctcatct tggaattcgt
      721 gatgatcgtg gttttcggct tggagtacat cgtccgggtc tggtccgccg gatgctgctg
      781 ccgctaccga ggatggcagg gtcgcttccg ctttgccaga aagcccttct gtgtcatcga
      841 cttcatcgtg ttcgtggcct cggtggccgt catcgccgcg ggtacccagg gcaacatctt
      901 cgccacgtcc gcgctgcgca gcatgcgctt cctgcagatc ctgcgcatgg tgcgcatgga
      961 ccgccgcggc ggcacctgga agctgctggg ctcagtggtc tacgcgcata gcaaggagct
     1021 gatcaccgcc tggtacatcg ggttcctggt gctcatcttc gcctccttcc tggtctacct
     1081 ggctgagaag gacgccaact ccgacttctc ctcctacgcc gactcgctct ggtgggggac
     1141 gattacattg acaaccatcg gctatggtga caagacaccg cacacatggc tgggcagggt
     1201 cctggctgct ggcttcgcct tactgggcat ctctttcttt gccctgcctg ccggcatcct
     1261 aggctccggc tttgccctga aggtccagga gcagcaccgg cagaagcact tcgagaagcg
     1321 gaggatgccg gcagccaacc tcatccaggc tgcctggcgc ctgtactcca ccgatatgag
     1381 ccgggcctac ctgacagcca cctggtacta ctatgacagt atcctcccat ccttcagaga
     1441 gctggccctc ttgtttgagc acgtgcaacg ggcccgcaat gggggcctac ggcccctgga
     1501 ggtgcggcgg gcgccggtac ccgacggagc accctcccgt tacccgcccg ttgccacctg
     1561 ccaccggccg ggcagcacct ccttctgccc tggggaaagc agccggatgg gcatcaaaga
     1621 ccgcatccgc atgggcagct cccagcggcg gacgggtcct tccaagcagc atctggcacc
     1681 tccaacaatg cccacctccc caagcagcga gcaggtgggt gaggccacca gccccaccaa
     1741 ggtgcaaaag agctggagct tcaatgaccg cacccgcttc cgggcatctc tgagactcaa
     1801 accccgcacc tctgctgagg atgccccctc agaggaagta gcagaggaga agagctacca
     1861 gtgtgagctc acggtggacg acatcatgcc tgctgtgaag acagtcatcc gctccatcag
     1921 gattctcaag ttcctggtgg ccaaaaggaa attcaaggag acactgcgac cgtacgacgt
     1981 gaaggacgtc attgagcagt actcagcagg ccacctggac atgctgggcc ggatcaagag
     2041 cctgcaaact cgggtggacc aaattgtggg tcgggggccc ggggacagga aggcccggga
     2101 gaagggcgac aaggggccct ccgacgcgga ggtggtggat gaaatcagca tgatgggacg
     2161 cgtggtcaag gtggagaagc aggtgcagtc catcgagcac aagctggacc tgctgttggg
     2221 cttctattcg cgctgcctgc gctctggcac ctcggccagc ctgggcgccg tgcaagtgcc
     2281 gctgttcgac cccgacatca cctccgacta ccacagccct gtggaccacg aggacatctc
     2341 cgtctccgca cagacgctca gcatctcccg ctcggtcagc accaacatgg actgagggac
     2401 ttctcagagg cagggcagca cacggccagc cccgcggcct ggcgctccga ctgccctctg
     2461 aggcctccgg actcctctcg tacttgaact cactccctca cggggagaga gaccacacgc
     2521 agtattgagc tgcctgagtg ggcgtggtac ctgctgtggg tgccagcgcc ccttccccac
     2581 ctcaggagcg tgagatgcca ggtcgcacag agggcagcag cagcggccgt cccgcggcct
     2641 ctgggccccc cagtgccctg cccactccat caaggcccta tgtggcccac ctggcagggg
     2701 cacagccccg ggagtgggag cgggcgctgg ggccctgggc cctgacccag cttccagcta
     2761 tgcaaggtga ggtctctggc ccacccttcg gacacagcag ggaagccctc ccgccaagtc
     2821 cccgccccac ttgggggtgg gccaaggtgc ccccacaggt acccacaaag cacaggaccc
     2881 tgccacaagg caggtggaca ccatatatgc aaaccatgtt aaatatgcaa ctttggggac
     2941 ccccatgggg tctctctgtc cctcccccat tgggagctgg gcccccagca gtagctggtc
     3001 tcaggctgct tggccaccac cctgtcccta ttctttggct tatcactcct tcccctccca
     3061 gcatggggcc tgtttctccc ctgccctctc ctaagggcaa tgcctgggcc tttcttccca
     3121 tttgcaagtg tcagctccca ggggctccct cctcctgctg ggtggccact cccctccttg
     3181 gccctccaga caccactcat agtcagcaca ggtttctgta tcctccccaa aactcccaga
     3241 cagtgcttcg tggacgatcg cacaaacata gccttttagt ttctccagac aggaagaaag
     3301 cctctcacac ttaaacatgc aatgacgtga cacacttgga gacatgagtg cagagccact
     3361 cagccgctcc tgggcctctg cagcagatgc cagtggactg gccttgcagg gtgacgacca
     3421 ctaagaggaa gacccccaac tccatctgag caggagaagg agctttgaag taacccgaga
     3481 gctctccagg ccccacccag acctttaccc gctccccttc ttcaagaaga tctcctcctc
     3541 tctggtccag gagccctaac ccactgcctc tgcctgtccc caagggcccg cctccgtgtc
     3601 tccacagcac aactcgggcc caggcctgac accactggag agaccccagg cccacttcta
     3661 gccaggcctg tgccttccta gtcactctaa ctcccagaga gaataagaat gcatgtaata
     3721 gctataccaa ccgcgcatcc ggctttcaca tgcactgtct cccctccctc cacaccccac
     3781 ttcttcactt caattggcag cgccacatcc aggcgtcagc ccccattcac tccaggaaca
     3841 ctttcttatc cccacccctt tgctcctctt ctgcaaagcc aatgcaggtg gcaggaaggt
     3901 gaggggtagt ggaccaatgg caaccctctg tgggaacaag gggccgaggc cacgctgcct
     3961 gcatctcgtg ctggggacct gcatgcgcca gcaccagggc ttggactgga tcttactcag
     4021 tccatggtgc ccagcctctg ccccaacatg ccctctgcat gtgaccgtca tgccctggat
     4081 ggagccactc ctggctcacc ccacctgcac tgcactgtcc ccagagagcc acccctccac
     4141 ccactcagag acagctgtgg agagggccag gagaatggga ttaccctatg accaaggaga
     4201 catgggaaga agccctcctt ccttccacga tcgaggttcc gccatcaact cggttctcgg
     4261 atatgcaagt acctcacttt gttaacttat taacttattg gtttcattaa agttttcaag
     4321 agga
//
