LOCUS       NM_000085               2562 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens chloride voltage-gated channel Kb (CLCNKB), transcript
            variant 1, mRNA.
ACCESSION   NM_000085 XM_003846621
VERSION     NM_000085.5
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 2562)
  AUTHORS   Yun,Y., Park,S.S., Lee,S., Seok,H., Park,S. and Lee,S.Y.
  TITLE     Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB
            Variants Linked to Hearing Loss
  JOURNAL   Int J Mol Sci 24 (23), 17077 (2023)
   PUBMED   38069401
  REMARK    GeneRIF: Expanding Genotype-Phenotype Correlation of CLCNKA and
            CLCNKB Variants Linked to Hearing Loss.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   Tschernoster,N., Erger,F., Kohl,S., Reusch,B., Wenzel,A., Walsh,S.,
            Thiele,H., Becker,C., Franitza,M., Bartram,M.P., Komhoff,M.,
            Schumacher,L., Kukat,C., Borodina,T., Quedenau,C., Nurnberg,P.,
            Rinschen,M.M., Driller,J.H., Pedersen,B.P., Schlingmann,K.P.,
            Huttel,B., Bockenhauer,D., Beck,B. and Altmuller,J.
  TITLE     Long-read sequencing identifies a common transposition haplotype
            predisposing for CLCNKB deletions
  JOURNAL   Genome Med 15 (1), 62 (2023)
   PUBMED   37612755
  REMARK    GeneRIF: Long-read sequencing identifies a common transposition
            haplotype predisposing for CLCNKB deletions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Zhao,Q., Xiang,Q., Tan,Y., Xiao,X., Xie,H., Wang,H., Yang,M. and
            Liu,S.
  TITLE     A novel CLCNKB variant in a Chinese family with classic Bartter
            syndrome and prenatal genetic diagnosis
  JOURNAL   Mol Genet Genomic Med 10 (10), e2027 (2022)
   PUBMED   35913199
  REMARK    GeneRIF: A novel CLCNKB variant in a Chinese family with classic
            Bartter syndrome and prenatal genetic diagnosis.
REFERENCE   4  (bases 1 to 2562)
  AUTHORS   Mou,L. and Wu,F.
  TITLE     Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an
            Inbred Chinese Pedigree
  JOURNAL   Genes (Basel) 12 (3), 369 (2021)
   PUBMED   33807568
  REMARK    GeneRIF: Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in
            an Inbred Chinese Pedigree.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2562)
  AUTHORS   Han,Y., Cheng,H., Shao,S., Lang,Y., Zhao,X., Lin,Y., Wang,S.,
            Shi,X., Liu,Z. and Shao,L.
  TITLE     Thirteen novel CLCNKB variants and genotype/phenotype association
            study in 42 Chinese patients with Bartter syndrome type 3
  JOURNAL   Endocrine 68 (1), 192-202 (2020)
   PUBMED   31834604
  REMARK    GeneRIF: Thirteen novel CLCNKB variants and genotype/phenotype
            association study in 42 Chinese patients with Bartter syndrome type
            3.
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Konrad,M., Vollmer,M., Lemmink,H.H., VAN DEN Heuvel,L.P.W.J.,
            Jeck,N., Vargas-Poussou,R., Lakings,A., Ruf,R., Deschenes,G.,
            Antignac,C., Guay-Woodford,L., Knoers,N.V.A.M., Seyberth,H.W.,
            Feldmann,D. and Hildebrandt,F.
  TITLE     Mutations in the chloride channel gene CLCNKB as a cause of classic
            Bartter syndrome
  JOURNAL   J Am Soc Nephrol 11 (8), 1449-1459 (2000)
   PUBMED   10906158
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Simon,D.B., Bindra,R.S., Mansfield,T.A., Nelson-Williams,C.,
            Mendonca,E., Stone,R., Schurman,S., Nayir,A., Alpay,H.,
            Bakkaloglu,A., Rodriguez-Soriano,J., Morales,J.M., Sanjad,S.A.,
            Taylor,C.M., Pilz,D., Brem,A., Trachtman,H., Griswold,W.,
            Richard,G.A., John,E. and Lifton,R.P.
  TITLE     Mutations in the chloride channel gene, CLCNKB, cause Bartter's
            syndrome type III
  JOURNAL   Nat Genet 17 (2), 171-178 (1997)
   PUBMED   9326936
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Saito-Ohara,F., Uchida,S., Takeuchi,Y., Sasaki,S., Hayashi,A.,
            Marumo,F. and Ikeuchi,T.
  TITLE     Assignment of the genes encoding the human chloride channels,
            CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ
            hybridization
  JOURNAL   Genomics 36 (2), 372-374 (1996)
   PUBMED   8812470
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Takeuchi,Y., Uchida,S., Marumo,F. and Sasaki,S.
  TITLE     Cloning, tissue distribution, and intrarenal localization of ClC
            chloride channels in human kidney
  JOURNAL   Kidney Int 48 (5), 1497-1503 (1995)
   PUBMED   8544406
REFERENCE   10 (bases 1 to 2562)
  AUTHORS   Kieferle,S., Fong,P., Bens,M., Vandewalle,A. and Jentsch,T.J.
  TITLE     Two highly homologous members of the ClC chloride channel family in
            both rat and human kidney
  JOURNAL   Proc Natl Acad Sci U S A 91 (15), 6943-6947 (1994)
   PUBMED   8041726
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355994.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_000085.4.
            
            Summary: The protein encoded by this gene is a member of the family
            of voltage-gated chloride channels. Chloride channels have several
            functions, including the regulation of cell volume, membrane
            potential stabilization, signal transduction and transepithelial
            transport. This gene is expressed predominantly in the kidney and
            may be important for renal salt reabsorption. Mutations in this
            gene are associated with autosomal recessive Bartter syndrome type
            3 (BS3). Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC033806.1, AK292335.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375679.9/ ENSP00000364831.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-99                AL355994.11        75010-75108
            100-206             AL355994.11        75714-75820
            207-335             AL355994.11        76786-76914
            336-464             AL355994.11        77763-77891
            465-604             AL355994.11        79133-79272
            605-682             AL355994.11        79571-79648
            683-761             AL355994.11        79732-79810
            762-887             AL355994.11        80348-80473
            888-972             AL355994.11        80846-80930
            973-1074            AL355994.11        81043-81144
            1075-1159           AL355994.11        81744-81828
            1160-1333           AL355994.11        82103-82276
            1334-1403           AL355994.11        82706-82775
            1404-1514           AL355994.11        82938-83048
            1515-1728           AL355994.11        83426-83639
            1729-1862           AL355994.11        84867-85000
            1863-1951           AL355994.11        86663-86751
            1952-2035           AL355994.11        86903-86986
            2036-2122           AL355994.11        87650-87736
            2123-2562           AL355994.11        88097-88536
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2562
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="chloride voltage-gated channel Kb"
                     /db_xref="GeneID:1188"
                     /db_xref="HGNC:HGNC:2027"
                     /db_xref="MIM:602023"
     exon            1..99
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            100..206
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..2170
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     chloride channel protein ClC-Kb; chloride channel, kidney,
                     B; chloride channel, voltage-sensitive Kb"
                     /codon_start=1
                     /product="chloride channel protein ClC-Kb isoform 1"
                     /protein_id="NP_000076.2"
                     /db_xref="CCDS:CCDS168.1"
                     /db_xref="GeneID:1188"
                     /db_xref="HGNC:HGNC:2027"
                     /db_xref="MIM:602023"
                     /translation="MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLF
                     RLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVA
                     LVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
                     LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFS
                     GVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVP
                     FDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSALATLV
                     LASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWY
                     HPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPE
                     GIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAA
                     NAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEE
                     VVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAA
                     GCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTN
                     PPAPK"
     exon            207..335
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            336..464
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            465..604
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            605..682
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            683..761
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            762..887
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            888..972
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1074
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1159
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1333
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1403
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1514
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1728
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1729..1862
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..1951
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            1952..2035
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2122
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2562
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2544..2549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="major polyA site"
ORIGIN      
        1 gaggatgttg attgttggaa cacacacctg tccaggtgca ggggagctgg aggctctgtg
       61 agaggagggc cagctcagcc acagcaggag gactgacagg ggcctgatgg aggagtttgt
      121 ggggctgcgt gaaggctcct cagggaaccc tgtgactctg caggagctgt ggggcccctg
      181 tccccgcatc cgccgaggca tccgaggtgg cctggagtgg ctgaagcaga agctcttccg
      241 cctgggcgag gactggtact tcctgatgac cctcggggtg ctcatggccc tggtcagctg
      301 tgccatggac ttggctgttg agagtgtggt ccgagcgcac cagtggctgt acagggagat
      361 tggggacagc cacctgctcc ggtatctctc ctggactgtg taccctgtgg ccctcgtctc
      421 tttctcttca ggcttctctc agagcatcac accctcctct ggaggttctg gaatcccgga
      481 ggtgaagacc atgttggcgg gtgtggtctt ggaggactac ctggatatca agaactttgg
      541 ggccaaagtg gtgggcctct cctgcaccct ggcctgtggc agcaccctct tcctcgggaa
      601 agtgggccct ttcgtgcacc tgtctgtgat gatggctgcc tacctgggcc gtgtgcgcac
      661 cacgaccatc ggggagcctg agaacaagag caagcaaaac gaaatgctgg tggcagcggc
      721 ggcagtgggc gtggccacag tctttgcagc tcccttcagc ggcgtcctgt tcagcatcga
      781 ggtcatgtct tcccacttct ctgtctggga ttactggagg ggcttctttg cggccacctg
      841 cggggccttc atgttccggc tcctggcggt cttcaacagc gagcaggaga ccatcacctc
      901 cctctacaag accagtttcc gggtggacgt tcccttcgac ctgcctgaga tcttcttttt
      961 tgtggcgctg gggggtctct gtggcatcct gggcagcgct tacctcttct gtcagcgaat
     1021 cttctttggc ttcatcagga acaataggtt cagctccaaa ctgctggcca ccagcaagcc
     1081 tgtgtactcc gctctggcca ccttggttct cgcctccatc acctacccac ccagcgccgg
     1141 ccgcttccta gcttctcggc tgtccatgaa gcagcatctg gactcgctgt tcgacaacca
     1201 ctcctgggcg ctgatgaccc agaactccag cccaccctgg cccgaggagc tcgaccccca
     1261 gcacctgtgg tgggaatggt accacccgcg gttcaccatc tttgggaccc ttgccttctt
     1321 cctggttatg aagttctgga tgctgattct ggccaccacc atccccatgc ctgccgggta
     1381 cttcatgccc atctttgtct atggagctgc tatcgggcgc ctctttgggg agactctctc
     1441 ttttatcttc cctgagggca tcgtggctgg agggatcacc aatcccatca tgccaggggg
     1501 gtatgctctg gcaggggctg cagccttctc aggggctgtg acccacacca tctccacggc
     1561 gctgctggcc ttcgaggtga ccggccagat agtgcatgca ctgcccgtgc tgatggcggt
     1621 gctggcagcc aacgccattg cacagagctg ccagccctcc ttctatgatg gcaccgtcat
     1681 tgtcaagaag ctgccatacc tgccacggat tctgggccgc aacatcggtt cccaccgcgt
     1741 gagggtggag cacttcatga accacagcat caccacactg gccaaggaca tgccactgga
     1801 ggaggtggtc aaggttgtga cctccacaga cgtggccaag tatcccctgg tggagagcac
     1861 agagtcccag atcctggtgg gcatagtgcg aagggcccag ctggtgcagg ccctgaaggc
     1921 tgagcctcct tcctgggctc ctggacacca gcagtgtctc caggacatct tggctgcagg
     1981 ctgccccaca gaaccagtga ccctgaagct gtccccagag acttccctgc atgaggcaca
     2041 caacctcttt gagctgttga accttcattc cctctttgtg acgtcgcggg gcagagctgt
     2101 gggctgcgtg tcctgggtgg agatgaagaa agcaatttcc aacctgacaa atccgccagc
     2161 cccaaagtga gccggcccag caagatgaaa cagggcaccc cagctgacct ggtactgagg
     2221 ttgggctgag accctgcttc tcttccccca tcaccacctg cccctccctc cagcccagct
     2281 ccattctttg gcataacagg caactttaac ctagcccaga agaggatggc tcatcctggg
     2341 tgggacgatg gctcctgcct tgaaagacaa aaatcccacc ttgggcagag ctgagtgtga
     2401 gaagatggaa aaccagtatc tgccagttgc tcagtgactg gccatcacat taatgaatga
     2461 tgagattgga gtacactgtc accaagggca ggcacagatg ccttctgggg ttgtctggtt
     2521 cccagtgaga ggctcctgag aaaaataaag ctggttccca ga
//
