LOCUS       NM_000441               4737 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens solute carrier family 26 member 4 (SLC26A4), mRNA.
ACCESSION   NM_000441
VERSION     NM_000441.2
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 4737)
  AUTHORS   Dou,M.M., Guan,J., Zhou,R., Li,J., Lan,L. and Wang,Q.J.
  TITLE     [Auditory characteristics and disease progression trends of
            patients with common recessive deafness genes GJB2 and SLC26A4]
  JOURNAL   Zhonghua Yi Xue Za Zhi 104 (38), 3600-3603 (2024)
   PUBMED   39414589
  REMARK    GeneRIF: [Auditory characteristics and disease progression trends
            of patients with common recessive deafness genes GJB2 and SLC26A4].
REFERENCE   2  (bases 1 to 4737)
  AUTHORS   Lee,H.J., Fenollar-Ferrer,C., Isgrig,K., Wang,Y.X., Valente,K.,
            Eide,J., Honda,K., Chien,W.W., Petralia,R.S., Dong,L.,
            Friedman,T.B., Bonifacino,J.S., Griffith,A.J. and Roux,I.
  TITLE     SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane
            abundance in the endolymphatic sac
  JOURNAL   Sci Adv 10 (41), eadm8663 (2024)
   PUBMED   39383236
  REMARK    GeneRIF: SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma
            membrane abundance in the endolymphatic sac.
REFERENCE   3  (bases 1 to 4737)
  AUTHORS   Tsukada,K., Nishio,S.Y., Takumi,Y. and Usami,S.I.
  TITLE     Comparison of vestibular function in hereditary hearing loss
            patients with GJB2, CDH23, and SLC26A4 variants
  JOURNAL   Sci Rep 14 (1), 10596 (2024)
   PUBMED   38720048
  REMARK    GeneRIF: Comparison of vestibular function in hereditary hearing
            loss patients with GJB2, CDH23, and SLC26A4 variants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4737)
  AUTHORS   Lee,D. and Hong,J.H.
  TITLE     Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of
            SLC26A4 in Various Organs
  JOURNAL   Int J Mol Sci 25 (8), 4190 (2024)
   PUBMED   38673775
  REMARK    GeneRIF: Chloride/Multiple Anion Exchanger SLC26A Family: Systemic
            Roles of SLC26A4 in Various Organs.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4737)
  AUTHORS   Gausden,E., Armour,J.A., Coyle,B., Coffey,R., Hochberg,Z.,
            Pembrey,M., Britton,K.E., Grossman,A., Reardon,W. and Trembath,R.
  TITLE     Thyroid peroxidase: evidence for disease gene exclusion in
            Pendred's syndrome
  JOURNAL   Clin Endocrinol (Oxf) 44 (4), 441-446 (1996)
   PUBMED   8706311
REFERENCE   6  (bases 1 to 4737)
  AUTHORS   Sheffield,V.C., Kraiem,Z., Beck,J.C., Nishimura,D., Stone,E.M.,
            Salameh,M., Sadeh,O. and Glaser,B.
  TITLE     Pendred syndrome maps to chromosome 7q21-34 and is caused by an
            intrinsic defect in thyroid iodine organification
  JOURNAL   Nat Genet 12 (4), 424-426 (1996)
   PUBMED   8630498
REFERENCE   7  (bases 1 to 4737)
  AUTHORS   Coyle,B., Coffey,R., Armour,J.A., Gausden,E., Hochberg,Z.,
            Grossman,A., Britton,K., Pembrey,M., Reardon,W. and Trembath,R.
  TITLE     Pendred syndrome (goitre and sensorineural hearing loss) maps to
            chromosome 7 in the region containing the nonsyndromic deafness
            gene DFNB4
  JOURNAL   Nat Genet 12 (4), 421-423 (1996)
   PUBMED   8630497
REFERENCE   8  (bases 1 to 4737)
  AUTHORS   Baldwin,C.T., Weiss,S., Farrer,L.A., De Stefano,A.L., Adair,R.,
            Franklyn,B., Kidd,K.K., Korostishevsky,M. and Bonne-Tamir,B.
  TITLE     Linkage of congenital, recessive deafness (DFNB4) to chromosome
            7q31 and evidence for genetic heterogeneity in the Middle Eastern
            Druze population
  JOURNAL   Hum Mol Genet 4 (9), 1637-1642 (1995)
   PUBMED   8541853
REFERENCE   9  (bases 1 to 4737)
  AUTHORS   Smith,R.J.H., Azaiez,H. and Odell,A.M.
  TITLE     SLC26A4-Related Sensorineural Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301640
REFERENCE   10 (bases 1 to 4737)
  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 AF030880.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000441.1.
            
            Summary: Mutations in this gene are associated with Pendred
            syndrome, the most common form of syndromic deafness, an
            autosomal-recessive disease. It is highly homologous to the SLC26A3
            gene; they have similar genomic structures and this gene is located
            3' of the SLC26A3 gene. The encoded protein has homology to sulfate
            transporters. [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 :: AF030880.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644269.2/ ENSP00000494017.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4737              AF030880.1         194-4930
FEATURES             Location/Qualifiers
     source          1..4737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     gene            1..4737
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="solute carrier family 26 member 4"
                     /db_xref="GeneID:5172"
                     /db_xref="HGNC:HGNC:8818"
                     /db_xref="MIM:605646"
     exon            1..28
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            29..195
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..2374
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="sodium-independent chloride/iodide transporter;
                     solute carrier family 26 (anion exchanger), member 4"
                     /codon_start=1
                     /product="pendrin"
                     /protein_id="NP_000432.1"
                     /db_xref="CCDS:CCDS5746.1"
                     /db_xref="GeneID:5172"
                     /db_xref="HGNC:HGNC:8818"
                     /db_xref="MIM:605646"
                     /translation="MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERK
                     TLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQG
                     MAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEH
                     FLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADP
                     LVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGL
                     LTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRG
                     FLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISN
                     IFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVL
                     AAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLT
                     VVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCI
                     KSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDL
                     EELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKE
                     FQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQG
                     SILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS"
     exon            196..335
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            336..446
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            447..631
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            632..796
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            797..949
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1032
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1180
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1294
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1372
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1468
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1575
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1645
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1738
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1834
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2065
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2120
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..2266
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2350
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            2351..4737
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4684..4689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="hexamer: AATAAA"
     polyA_site      4711
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="major polyA site"
ORIGIN      
        1 attccgggcg gggcgcgagc agagacaggt catggcagcg ccaggcggca ggtcggagcc
       61 gccgcagctc cccgagtaca gctgcagcta catggtgtcg cggccggtct acagcgagct
      121 cgctttccag caacagcacg agcggcgcct gcaggagcgc aagacgctgc gggagagcct
      181 ggccaagtgc tgcagttgtt caagaaagag agcctttggt gtgctaaaga ctcttgtgcc
      241 catcttggag tggctcccca aataccgagt caaggaatgg ctgcttagtg acgtcatttc
      301 gggagttagt actgggctag tggccacgct gcaagggatg gcatatgccc tactagctgc
      361 agttcctgtc ggatatggtc tctactctgc ttttttccct atcctgacat actttatctt
      421 tggaacatca agacatatct cagttggacc ttttccagtg gtgagtttaa tggtgggatc
      481 tgttgttctg agcatggccc ccgacgaaca ctttctcgta tccagcagca atggaactgt
      541 attaaatact actatgatag acactgcagc tagagataca gctagagtcc tgattgccag
      601 tgccctgact ctgctggttg gaattataca gttgatattt ggtggcttgc agattggatt
      661 catagtgagg tacttggcag atcctttggt tggtggcttc acaacagctg ctgccttcca
      721 agtgctggtc tcacagctaa agattgtcct caatgtttca accaaaaact acaatggagt
      781 tctctctatt atctatacgc tggttgagat ttttcaaaat attggtgata ccaatcttgc
      841 tgatttcact gctggattgc tcaccattgt cgtctgtatg gcagttaagg aattaaatga
      901 tcggtttaga cacaaaatcc cagtccctat tcctatagaa gtaattgtga cgataattgc
      961 tactgccatt tcatatggag ccaacctgga aaaaaattac aatgctggca ttgttaaatc
     1021 catcccaagg gggtttttgc ctcctgaact tccacctgtg agcttgttct cggagatgct
     1081 ggctgcatca ttttccatcg ctgtggtggc ttatgctatt gcagtgtcag taggaaaagt
     1141 atatgccacc aagtatgatt acaccatcga tgggaaccag gaattcattg cctttgggat
     1201 cagcaacatc ttctcaggat tcttctcttg ttttgtggcc accactgctc tttcccgcac
     1261 ggccgtccag gagagcactg gaggaaagac acaggttgct ggcatcatct ctgctgcgat
     1321 tgtgatgatc gccattcttg ccctggggaa gcttctggaa cccttgcaga agtcggtctt
     1381 ggcagctgtt gtaattgcca acctgaaagg gatgtttatg cagctgtgtg acattcctcg
     1441 tctgtggaga cagaataaga ttgatgctgt tatctgggtg tttacgtgta tagtgtccat
     1501 cattctgggg ctggatctcg gtttactagc tggccttata tttggactgt tgactgtggt
     1561 cctgagagtt cagtttcctt cttggaatgg ccttggaagc atccctagca cagatatcta
     1621 caaaagtacc aagaattaca aaaacattga agaacctcaa ggagtgaaga ttcttagatt
     1681 ttccagtcct attttctatg gcaatgtcga tggttttaaa aaatgtatca agtccacagt
     1741 tggatttgat gccattagag tatataataa gaggctgaaa gcgctgagga aaatacagaa
     1801 actaataaaa agtggacaat taagagcaac aaagaatggc atcataagtg atgctgtttc
     1861 aacaaataat gcttttgagc ctgatgagga tattgaagat ctggaggaac ttgatatccc
     1921 aaccaaggaa atagagattc aagtggattg gaactctgag cttccagtca aagtgaacgt
     1981 tcccaaagtg ccaatccata gccttgtgct tgactgtgga gctatatctt tcctggacgt
     2041 tgttggagtg agatcactgc gggtgattgt caaagaattc caaagaattg atgtgaatgt
     2101 gtattttgca tcacttcaag attatgtgat agaaaagctg gagcaatgcg ggttctttga
     2161 cgacaacatt agaaaggaca cattcttttt gacggtccat gatgctatac tctatctaca
     2221 gaaccaagtg aaatctcaag agggtcaagg ttccatttta gaaacgatca ctctcattca
     2281 ggattgtaaa gatacccttg aattaataga aacagagctg acggaagaag aacttgatgt
     2341 ccaggatgag gctatgcgta cacttgcatc ctgaaagtgg gttcgggagg tctctatgag
     2401 caaggaatac aagacaaaac ttcctcaatg cattgactat ttcttcagac tcaaaacact
     2461 cattcttttt tctattaagc cattgaaaga gaagcactaa gactgcttct aggctttatt
     2521 tataaaataa acaccttatc cctaacatgg gcaaaatggc tagaattatt cagacgattt
     2581 ggcagcgtcc agggtaagct ggtgttataa tacgctgctg atctacatca cagatttgct
     2641 aataatgttc acgtgggccc tggcatatct ctgttcagtt agagtgagtg ctgacccaac
     2701 agcctctgtg gtcaagcgag tcacgaatga ttaatcataa agaaaaatca gtttttgact
     2761 gacctggata tccatgagct gcactgatca ccatgtaagg tcacatttag taaatgctga
     2821 aataaaatga ttaatgcatt tatcaataaa agcctttgaa aatactttgg ataataaatt
     2881 ggagttttaa aaatgcaaat ttgcttagta tctaataatg aagtgttatt acatatagcc
     2941 ggaattgagg atctctttga tcctggaaat ggtttaccta aaagctacag aaccaggcca
     3001 atatattttg aaatattgat gcagacaaat gaaataataa agagattttc atggtttata
     3061 aaaatctttt ttgatatgat aataatcatg atcacaactg agatcaaaaa aatatatgac
     3121 agattatttt gtttaaaaat gcagttttaa ttatcttagt ctatagaaat gatcattgca
     3181 tggaggcatg tataggtatg atctgtgtaa aatctgacat aaaaacagtg ctattctgag
     3241 tgaaaatttt tttgatgtgc ttacataacc atggtgatta aaatgagttt atattttttc
     3301 tcaaaaattt tagcagtgtg taaagtaagt aatctttaac tgaactctga ccacttaaaa
     3361 aaaaatctaa aaattgaact acctatagta gtctgtgttt aaagtgaatt tttaaagaca
     3421 aagcattcta aatgaactca atataaaaac attcatttgg aatgtacata ctgaaaaata
     3481 caggtttttt tgaccaaaag tttttatatc ttttcttttt atttattttt ttcctaagtg
     3541 ccaacaattt tctagatatt atatacaaca caggctttga tcttggggac ttttcccata
     3601 tatttcacac tggagtgaat gaagttgtac ttcatttcta gagaaaagtt atacccaggt
     3661 ccccaattga gaatgtcttg cttgattgaa aacgacatca tcccttggta tactccaggg
     3721 attggtttca ggacccctgc atttaccaaa atttgtgcac actcaagtcc tgcagtcacc
     3781 cctgcctaaa gatagaatgg cttctctgtt tttcttctga aatacaacca gaaacaatgt
     3841 gtctatttct gaaagaatag gattaatgat catacaaatg ggttaatcct gaattctggt
     3901 tgtaaatctg gttacagcat aactaggatt ataatgctgc ctcattttca cagcactact
     3961 tgcttatatt gacaacaaat catctcgcta aagagtgaat gtaggccagg cgcggtggct
     4021 catgcctgta atcccagcac tttgggaggc cgaggcgggt ggatcacgag gtcaggagat
     4081 cgagaccatc ctggctaaca tggtaaaacc ccgtctctac taaaaataga aaaaaagaaa
     4141 ttagcctagc gtggtggctg gcgggcgcct gtagtcccag ctatttggga ggctaaggca
     4201 ggagaatggc gtgaacccgg gaggcggagc ttgcagtgag ccgaggtcgt gccactgcac
     4261 tccagcctgg gcgacagagc aagactccgt ctcaaaaaaa aaaaaaaaaa aaaaaaaaga
     4321 gtgaatgtaa tagtcttgca gaaaatgaat gaataccttt gttcaataaa ggaaatatgc
     4381 actgctcact tttttgaagg aaatgccaaa gttacgtttt acaacaaggc tagagtttgt
     4441 aaattctggg ttcatttgtg atgacataag tcagcaaact gcgggaatac tgtctcttct
     4501 atgtattttg tgaatagtaa gcataatttt agttttgtat tatcaatgaa aatttcactt
     4561 gaaattaaag ctgccttttg ttatattttt aacctatagg ataagattcc agtattgtat
     4621 atgagtttta acaaattaaa aaatcaaatc atgtacattt gaaaatattt gcacacattt
     4681 aaaaataaat gtaaagttgt cttttaaact actcggatgt gtcctttctg aacaaaa
//
