LOCUS       NM_011930               4070 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus chloride channel, voltage-sensitive 7 (Clcn7),
            transcript variant 1, mRNA.
ACCESSION   NM_011930
VERSION     NM_011930.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4070)
  AUTHORS   Bose,S., de Heus,C., Kennedy,M.E., Wang,F., Jentsch,T.J.,
            Klumperman,J. and Stauber,T.
  TITLE     Impaired Autophagic Clearance with a Gain-of-Function Variant of
            the Lysosomal Cl-/H+ Exchanger ClC-7
  JOURNAL   Biomolecules 13 (12), 1799 (2023)
   PUBMED   38136669
  REMARK    GeneRIF: Impaired Autophagic Clearance with a Gain-of-Function
            Variant of the Lysosomal Cl[-]/H[+] Exchanger ClC-7.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4070)
  AUTHORS   Cao,X., Lenk,G.M., Mikusevic,V., Mindell,J.A. and Meisler,M.H.
  TITLE     The chloride antiporter CLCN7 is a modifier of lysosome dysfunction
            in FIG4 and VAC14 mutants
  JOURNAL   PLoS Genet 19 (6), e1010800 (2023)
   PUBMED   37363915
  REMARK    GeneRIF: The chloride antiporter CLCN7 is a modifier of lysosome
            dysfunction in FIG4 and VAC14 mutants.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4070)
  AUTHORS   Stauber,T., Wartosch,L., Vishnolia,S., Schulz,A. and Kornak,U.
  TITLE     CLCN7, a gene shared by autosomal recessive and autosomal dominant
            osteopetrosis
  JOURNAL   Bone 168, 116639 (2023)
   PUBMED   36513280
  REMARK    GeneRIF: CLCN7, a gene shared by autosomal recessive and autosomal
            dominant osteopetrosis.
REFERENCE   4  (bases 1 to 4070)
  AUTHORS   Alam,I., Gerard-O'Riley,R.L., Acton,D., Hardman,S.L., Murphy,M.,
            Alvarez,M.B., Blosser,R.J., Sinn,A., Srour,E.F., Kacena,M.A. and
            Econs,M.J.
  TITLE     Bone marrow transplantation as a therapy for autosomal dominant
            osteopetrosis type 2 in mice
  JOURNAL   FASEB J 36 (9), e22471 (2022)
   PUBMED   35959867
REFERENCE   5  (bases 1 to 4070)
  AUTHORS   Lin,J., Wei,J., Lv,Y., Zhang,X., Yi,R.F., Dai,C., Zhang,Q., Jia,J.,
            Zhang,D. and Huang,Y.
  TITLE     H(+)/Cl(-) exchange transporter 7 promotes lysosomal
            acidification-mediated autophagy in mouse cardiomyocytes
  JOURNAL   Mol Med Rep 23 (3) (2021)
   PUBMED   33495814
  REMARK    GeneRIF: H(+)/Cl() exchange transporter 7 promotes lysosomal
            acidificationmediated autophagy in mouse cardiomyocytes.
REFERENCE   6  (bases 1 to 4070)
  AUTHORS   Kasper,D., Planells-Cases,R., Fuhrmann,J.C., Scheel,O., Zeitz,O.,
            Ruether,K., Schmitt,A., Poet,M., Steinfeld,R., Schweizer,M.,
            Kornak,U. and Jentsch,T.J.
  TITLE     Loss of the chloride channel ClC-7 leads to lysosomal storage
            disease and neurodegeneration
  JOURNAL   EMBO J 24 (5), 1079-1091 (2005)
   PUBMED   15706348
  REMARK    GeneRIF: ClC-7 knockout mice display neurodegeneration and severe
            lysosomal storage disease despite unchanged lysosomal pH in
            cultured neurons.
REFERENCE   7  (bases 1 to 4070)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 4070)
  AUTHORS   Kornak,U., Kasper,D., Bosl,M.R., Kaiser,E., Schweizer,M.,
            Schulz,A., Friedrich,W., Delling,G. and Jentsch,T.J.
  TITLE     Loss of the ClC-7 chloride channel leads to osteopetrosis in mice
            and man
  JOURNAL   Cell 104 (2), 205-215 (2001)
   PUBMED   11207362
REFERENCE   9  (bases 1 to 4070)
  AUTHORS   Kornak,U., Bosl,M.R. and Kubisch,C.
  TITLE     Complete genomic structure of the CLCN6 and CLCN7 putative chloride
            channel genes(1)
  JOURNAL   Biochim Biophys Acta 1447 (1), 100-106 (1999)
   PUBMED   10500249
REFERENCE   10 (bases 1 to 4070)
  AUTHORS   Ko,M.S., Threat,T.A., Wang,X., Horton,J.H., Cui,Y., Wang,X.,
            Pryor,E., Paris,J., Wells-Smith,J., Kitchen,J.R., Rowe,L.B.,
            Eppig,J., Satoh,T., Brant,L., Fujiwara,H., Yotsumoto,S. and
            Nakashima,H.
  TITLE     Genome-wide mapping of unselected transcripts from extraembryonic
            tissue of 7.5-day mouse embryos reveals enrichment in the t-complex
            and under-representation on the X chromosome
  JOURNAL   Hum Mol Genet 7 (12), 1967-1978 (1998)
   PUBMED   9811942
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY124882.1, AK030444.1 and BB769566.1.
            
            On Dec 3, 2015 this sequence version replaced NM_011930.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK030444.1, BC054799.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-3                 BY124882.1         2-4
            4-4066              AK030444.1         2-4064
            4067-4070           BB769566.1         551-554
FEATURES             Location/Qualifiers
     source          1..4070
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 12.53 cM"
     gene            1..4070
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /note="chloride channel, voltage-sensitive 7"
                     /db_xref="GeneID:26373"
                     /db_xref="MGI:MGI:1347048"
     exon            1..224
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..2498
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /note="isoform 1 is encoded by transcript variant 1;
                     h(+)/Cl(-) exchange transporter 7; chloride channel
                     protein 7; chloride channel 7 alpha subunit"
                     /codon_start=1
                     /product="H(+)/Cl(-) exchange transporter 7 isoform 1"
                     /protein_id="NP_036060.1"
                     /db_xref="CCDS:CCDS28509.1"
                     /db_xref="GeneID:26373"
                     /db_xref="MGI:MGI:1347048"
                     /translation="MANVSKKVSWSGRDRDDEEGAPLLRRTGQPDEETPLLNGAGPGA
                     RQSHSALFRIGQMNNVELDDELLDPEVDPPHTFPKEIPHNEKLLSLKYESLDYDNSEN
                     QLFLEEERRINHTAFRTVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKDN
                     IDKFTEKGGLSFSLLLWATLNSAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPH
                     VVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEY
                     FRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTF
                     TLNFVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGILGAVFNA
                     LNYWLTMFRIRYIHRPCLQVIEAMLVAAVTATVAFVLIYSSRDCQPLQGSSMSYPLQL
                     FCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPMTLGLFTLVYFFLACWTYGLTVS
                     AGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTV
                     IMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLT
                     AREVMSTPVTCLRRREKVGIIVDVLSDTASNHNGFPVVEDVGDTQPARLQGLILRSQL
                     IVLLKHKVFVERSNMGLVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMN
                     PSPYTVPQEASLPRVFKLFRALGLRHLVVVDNHNQVVGLVTRKDLARYRLGKGGLEEL
                     SLAQT"
     exon            225..293
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            294..365
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            366..431
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            432..564
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            565..674
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            675..755
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            756..818
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            819..902
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            903..996
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1061
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1178
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1233
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1294
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1433
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1527
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1697
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1749
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..1877
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..1963
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            1964..2093
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            2094..2153
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            2154..2330
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            2331..2411
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..4070
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4046..4051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /note="hexamer: AATAAA"
     polyA_site      4065
                     /gene="Clcn7"
                     /gene_synonym="ClC-7; D17Wsu51e"
                     /note="major polyA site"
ORIGIN      
        1 gatagatcac gtgagacctg ggcgcgggtc acgggaatgc tgccggtctg ccggctgttc
       61 ttgttgagtt tggtcctcag tgggccatgg ccaacgtctc taagaaagtg tcttggtccg
      121 gccgagatcg cgatgatgag gagggggcgc cactgcttcg aaggacaggg cagcctgacg
      181 aggagacgcc gctgctgaac ggagctgggc cgggcgcgcg ccagtctcat tctgcactgt
      241 tccgaatcgg acagatgaac aacgtggagc tggatgacga gctcctggac ccggaagtcg
      301 atcctcctca caccttcccc aaggagattc cacacaacga gaagctcctc tccctcaagt
      361 atgagagcct ggactatgac aacagcgaga atcagctctt cctggaggag gaaagacgaa
      421 tcaaccacac ggctttccgg acagtggaga tcaagcgctg ggttatctgt gccctcattg
      481 gaatcctcac aggcctagta gcctgcttca ttgacattgt agtggagaac ctggcaggcc
      541 tcaagtaccg cgtcatcaag gacaacattg acaagttcac agagaagggc ggcctgtcct
      601 tctccctcct gctgtgggcc acgctgaact ctgccttcgt actcgtgggg tctgtgatcg
      661 tggccttcat agagcctgtt gctgctggca gcggaatccc tcagatcaag tgcttcctca
      721 atggggtgaa gatcccccac gtggtgcggc tcaagacgct ggtgatcaag gtgtccggcg
      781 tgattctgtc tgtggtaggg ggactggctg tgggaaagga agggccaatg atccactcag
      841 gatccgtgat agctgcaggg atttcacagg gaaggtcaac atcactcaag cgagatttca
      901 agatctttga atatttccgc agagatacag agaagcggga ttttgtctca gctggagctg
      961 cagctggtgt atctgctgca tttggagccc ctgtgggtgg ggtcctgttt agcttggaag
     1021 agggcgcctc cttctggaat cagttcctga cttggagaat tttctttgct tccatgattt
     1081 ccacctttac attgaatttt gttctgagca tctaccatgg aaatatgtgg gacctgtcca
     1141 gccctggcct cataaatttt ggaagatttg actcagagaa aatggcctac accatccatg
     1201 agattccagt cttcatcgcc atgggtgtgg tgggtggcat tcttggagct gtgttcaatg
     1261 ccttgaatta ctggctaacc atgtttcgaa tcaggtacat ccaccggccc tgcctccaag
     1321 tgattgaggc catgctggtg gctgctgtca cagcaacagt tgcgtttgtc ttgatttact
     1381 cgtctcgaga ttgccaaccc ctgcagggga gctccatgtc ctacccactc cagctcttct
     1441 gtgcagatgg cgaatacaac tccatggccg cagccttctt taacacccct gagaagagcg
     1501 ttgtcagcct gttccatgac ccaccaggct cctataatcc catgactctc ggcctgttta
     1561 ccctggtcta cttcttcctg gcctgctgga cctatggcct cacagtatct gctggtgtct
     1621 tcatcccatc cctgctcatt ggggctgcct ggggccgact ctttggcatc tccctgtcct
     1681 acctcacagg ggcagcgatc tgggcagatc cgggtaaata cgccctgatg ggagctgctg
     1741 ctcagcttgg tgggatcgtg agaatgaccc ttagcctgac agtcatcatg atggaggcca
     1801 ccagcaacgt gacctacggt ttccccatca tgttggtgct gatgactgcc aagattgtgg
     1861 gtgatgtttt cattgagggc ctctatgaca tgcacatcca gctgcagagt gtacccttcc
     1921 tacactggga agccccggtc acctcacact cgctcacggc cagggaagta atgagcacac
     1981 ctgtgacctg cctgaggagg cgagagaagg ttggcatcat cgtggatgtc ctaagcgaca
     2041 cagcgtctaa tcacaacgga ttccctgtgg tggaggatgt aggagacacc cagccagcca
     2101 ggctccaagg cttgatcctg cgttcccagc ttatcgttct cttgaagcat aaggtgtttg
     2161 tggagaggtc caacatgggt ttggtgcagc ggcgactgag gctgaaggac ttccgagatg
     2221 cctatccacg cttcccccca atccagtcca ttcatgtatc ccaggatgag cgtgaatgca
     2281 ccatggacct ttctgaattc atgaaccctt ctccctacac tgtgcctcag gaggcatctc
     2341 ttcctcgagt gttcaagctc ttccgggctc tgggcctgag gcacctggta gtagtagaca
     2401 accacaatca ggtggtcggg ctggtgacca ggaaggacct agcaagatac cgcctaggaa
     2461 agggaggcct agaagagctt tcgctggccc agacgtgagg gctggccccc cagccttgga
     2521 cagcagtacc ccagcccctc tgcacctcct cccagggtcc ctgatctcag ccaaagcctt
     2581 gccccctagg cagtgcagca acaggagcaa atgccctccc taggcttggc tggtgtgggg
     2641 gccagaccct ttgtcctggg cagttggttt cagtcatcag cactttccct attccctgac
     2701 cctccaggcc tcagacttgc cccactcctg gttccttctc ccaggatgaa gtgtgtgtta
     2761 tcacacccct tgtggctcac ttctgagagc caatagagtg tgtgtgagaa agacagacgt
     2821 gagctactac ttactgctgt ctctgctcag actctgagcc cttctcaccc tgtgtctgca
     2881 ttgctcacac agccaggggc ttcagtagca gggcatgggg agctatacag cctggagcag
     2941 gctctgtcag ggaacccaca tgtgccacac atgccgccct gcatctttgt ccagaagatg
     3001 gggagactgg ttctgtacct ggggcttgtg atctgaaaat cacatgaaga ctgaaattga
     3061 attcaccaac atctgcccta ggctttcaga cctggggtca tggccctgga ccacagccag
     3121 aaggcaggtc tttttgaggc ccttaggtcc ctggggtcca tagtagcttg cttactactg
     3181 tactgtgtgg tatgcccttg ggaagtggcc tcccagggcc tggccatcct ggggtagccc
     3241 taggatggat agacccgtga gcaccagagc caaggaactt cacccctgaa ccctgtgttg
     3301 tcaaagctgg ccccactgac atccttcact caccttcagg gtcttctccc ctgggaactt
     3361 tgtaaagata gttgcagtgt ctctggcaca agtctgttat aaggtcacac agggtctttc
     3421 tttggaaagc tggcagctcc tgcctttcag ttgtccctcc aaaagagcgg ctcttccttc
     3481 catgaagaga tgggctaagt atgttgaatc tggaatgaga aatgagagcc ccctgttctc
     3541 tgccttgggc tcagcattct ggggagtcag gcactcagca tggtgataaa caagtgcaga
     3601 tggcacttta aacagtagtt gctgtctgtg tcgggcagtg gtgcagttct tgaagagtac
     3661 tgcagccagc ccagggccca gtgggagggc cgtccaggga ctctggcctt ctcgtcccat
     3721 ctcagacttg ctctcagact cactgcagag catgggttct gtgacctgct tggatggcat
     3781 cctgtcctca agcctggcca cagcaggctc ttcaagaagt taaaactgac ccatctggta
     3841 tagaggtcca agtgacaacg ccaggggtgc tctggaccgg gaagggccat tcctaaagtt
     3901 ggacccaagg ggtgaaaaac actgcacagg gtctcaaaga cttggtacca aaaaaggcac
     3961 gtgcaatctg tccacggcta tgcagtctgt ccacagctgt gtgctgacta catgctgaaa
     4021 tgatattttt ggatatatta ggttaaataa aacaatcaaa atttgtctct
//
