LOCUS       NM_024628               3485 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens solute carrier family 12 member 8 (SLC12A8),
            transcript variant 1, mRNA.
ACCESSION   NM_024628
VERSION     NM_024628.6
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 3485)
  AUTHORS   Huang,F., Cui,J., Wan,J., Yuan,X., Zhu,Y., Wu,X., Zuo,W. and
            Zhao,T.
  TITLE     SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer via
            PDK1/AKT axis
  JOURNAL   J Cancer Res Clin Oncol 149 (18), 16729-16739 (2023)
   PUBMED   37725242
  REMARK    GeneRIF: SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer
            via PDK1/AKT axis.
REFERENCE   2  (bases 1 to 3485)
  AUTHORS   Zhang,X., Wu,H. and Wang,S.
  TITLE     [SLC12A8 promotes proliferation, invasiveness, migration and
            epithelial-mesenchymal transition of bladder cancer cells by
            activating JAK/STAT singaling]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (9), 1613-1621 (2023)
   PUBMED   37814877
  REMARK    GeneRIF: [SLC12A8 promotes proliferation, invasiveness, migration
            and epithelial-mesenchymal transition of bladder cancer cells by
            activating JAK/STAT singaling].
REFERENCE   3  (bases 1 to 3485)
  AUTHORS   Zhang,Q., Liu,Y., Chen,P., Shi,X., Liu,Y., Shi,L., Cong,P., Mao,S.,
            Tong,C., Du,C. and Hou,M.
  TITLE     Solute carrier family 12 member 8 (SLC12A8) is a potential
            biomarker and related to tumor immune cell infiltration in bladder
            cancer
  JOURNAL   Bioengineered 12 (1), 4946-4961 (2021)
   PUBMED   34365894
  REMARK    GeneRIF: Solute carrier family 12 member 8 (SLC12A8) is a potential
            biomarker and related to tumor immune cell infiltration in bladder
            cancer.
REFERENCE   4  (bases 1 to 3485)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3485)
  AUTHORS   Gagnon,K.B. and Delpire,E.
  TITLE     Physiology of SLC12 transporters: lessons from inherited human
            genetic mutations and genetically engineered mouse knockouts
  JOURNAL   Am J Physiol Cell Physiol 304 (8), C693-C714 (2013)
   PUBMED   23325410
  REMARK    GeneRIF: Review summarizes three human disorders that have been
            linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl
            cotransporters (Bartter's, Gitleman's, and Andermann's syndromes).
            Review article
REFERENCE   6  (bases 1 to 3485)
  AUTHORS   Daigle,N.D., Carpentier,G.A., Frenette-Cotton,R., Simard,M.G.,
            Lefoll,M.H., Noel,M., Caron,L., Noel,J. and Isenring,P.
  TITLE     Molecular characterization of a human cation-Cl- cotransporter
            (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport
  JOURNAL   J Cell Physiol 220 (3), 680-689 (2009)
   PUBMED   19472210
  REMARK    GeneRIF: Molecular characterization of a human cation-Cl-
            cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino
            acid transport.
REFERENCE   7  (bases 1 to 3485)
  AUTHORS   Huffmeier,U., Lascorz,J., Traupe,H., Bohm,B., Schurmeier-Horst,F.,
            Stander,M., Kelsch,R., Baumann,C., Kuster,W., Burkhardt,H. and
            Reis,A.
  TITLE     Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5
            confirms a role in susceptibility to psoriasis vulgaris
  JOURNAL   J Invest Dermatol 125 (5), 906-912 (2005)
   PUBMED   16297188
  REMARK    GeneRIF: SLC12A8 is a susceptibility locus for psoriasis vulgaris.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3485)
  AUTHORS   Hebert,S.C., Mount,D.B. and Gamba,G.
  TITLE     Molecular physiology of cation-coupled Cl- cotransport: the SLC12
            family
  JOURNAL   Pflugers Arch 447 (5), 580-593 (2004)
   PUBMED   12739168
  REMARK    Review article
REFERENCE   9  (bases 1 to 3485)
  AUTHORS   Hewett,D., Samuelsson,L., Polding,J., Enlund,F., Smart,D.,
            Cantone,K., See,C.G., Chadha,S., Inerot,A., Enerback,C.,
            Montgomery,D., Christodolou,C., Robinson,P., Matthews,P.,
            Plumpton,M., Wahlstrom,J., Swanbeck,G., Martinsson,T., Roses,A.,
            Riley,J. and Purvis,I.
  TITLE     Identification of a psoriasis susceptibility candidate gene by
            linkage disequilibrium mapping with a localized single nucleotide
            polymorphism map
  JOURNAL   Genomics 79 (3), 305-314 (2002)
   PUBMED   11863360
  REMARK    GeneRIF: Maps to 3q21.  Associated with suseptibility to psoriasis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108688.5, AC055752.17,
            KF459585.1 and AC117488.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_024628.5.
            
            Summary: This gene is thought to be a candidate for psoriasis
            susceptibility. Several alternatively spliced transcript variants
            of this gene have been described, but the full-length nature of
            some of these variants has not been determined. [provided by
            RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK123001.1, SRR11853564.19775.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000469902.6/ ENSP00000418783.1
            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
            1-49                AC108688.5         11866-11914         c
            50-145              AC108688.5         10465-10560         c
            146-292             AC055752.17        103934-104080       c
            293-484             AC055752.17        100796-100987       c
            485-716             AC055752.17        91302-91533         c
            717-830             AC055752.17        49228-49341         c
            831-918             KF459585.1         163-250             c
            919-1006            AC055752.17        32328-32415         c
            1007-1153           AC055752.17        23748-23894         c
            1154-1799           AC055752.17        21040-21685         c
            1800-1897           AC055752.17        5660-5757           c
            1898-2015           AC055752.17        4998-5115           c
            2016-2076           AC117488.11        46897-46957         c
            2077-3485           AC117488.11        41231-42639         c
FEATURES             Location/Qualifiers
     source          1..3485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.2"
     gene            1..3485
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /note="solute carrier family 12 member 8"
                     /db_xref="GeneID:84561"
                     /db_xref="HGNC:HGNC:15595"
                     /db_xref="MIM:611316"
     exon            1..49
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            50..145
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..2239
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /note="solute carrier family 12 (sodium/potassium/chloride
                     transporters), member 8; cation-chloride cotransporter 9"
                     /codon_start=1
                     /product="solute carrier family 12 member 8"
                     /protein_id="NP_078904.4"
                     /db_xref="CCDS:CCDS43143.1"
                     /db_xref="GeneID:84561"
                     /db_xref="HGNC:HGNC:15595"
                     /db_xref="MIM:611316"
                     /translation="MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDG
                     VFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIG
                     SGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGI
                     SVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPEL
                     LQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISW
                     FLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRI
                     LQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFM
                     LTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRV
                     LEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLD
                     LKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESS
                     GEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVA
                     AIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDME
                     MTQLTQENADFATRDRYHHSSLVNREQLMPHY"
     exon            146..292
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            293..484
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            485..716
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            717..830
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            831..918
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1006
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1153
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1799
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1897
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..2015
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2076
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..3485
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2948..2953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /note="hexamer: AATACA"
     polyA_site      2976
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /note="major polyA site"
     regulatory      3467..3472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
                     /note="hexamer: ATTAAA"
     polyA_site      3485
                     /gene="SLC12A8"
                     /gene_synonym="CCC9"
ORIGIN      
        1 gcggggaccg ggcgggccgg gcgctgggag ctggctgtcc caggagcaga gcagtctccc
       61 tgtccagatc accaggatcc ctgcttgctg gagaatgacc cagatgtccc aggtgcagga
      121 gctcttccat gaggcagccc agcaggatgc cctggcccag ccccagccct ggtggaagac
      181 ccagctgttc atgtgggagc ctgtgctgtt tgggacctgg gatggtgtgt tcacatcctg
      241 catgatcaac atctttgggg ttgtgctctt cctgaggact ggctggctgg tgggaaacac
      301 aggagtgctc ctgggcatgt tcctggtgtc cttcgtcatc ctggtggccc tcgtcacggt
      361 gctgtctggc attggcgtcg gggagcgcag cagcatcggc agcggtggcg tctactccat
      421 gatctcctcg gtcctgggtg ggcagacggg aggcaccatc gggctgctct atgtgtttgg
      481 acagtgtgtt gcaggtgcca tgtatatcac cggctttgct gaatccatct cggatttgct
      541 gggcctcggg aatatctggg ctgtgcgagg aatttcagtt gcggtgcttc tggccttgct
      601 gggcattaac ctcgcaggtg tcaaatggat aatccgcctc cagctgctgt tgctgttcct
      661 gctggccgtg tccacactgg actttgtggt gggttctttc acccacctgg acccagaaca
      721 tggtttcatt ggatattcac ccgaactgct acagaacaac acgctgcccg attacagccc
      781 gggggaatct tttttcactg tctttggggt tttcttccca gcggctacag gagtcatggc
      841 cggcttcaac atggggggcg acctcaggga gcctgccgcc agcattcccc tgggctccct
      901 ggcagctgtt ggcatctcgt ggtttctgta catcatcttc gtcttcctcc tgggcgccat
      961 ctgcactcga gaggcccttc gctatgactt cctgatagcg gaaaaggtat ccctcatggg
     1021 cttcctgttc cttttgggct tatacatctc gtccctggct tcctgcatgg gaggacttta
     1081 tggagctccc cgcatcctgc agtgcattgc ccaggagaaa gtgatccctg cacttgcctg
     1141 tctgggacaa gggaaggggc caaacaaaac acccgtggct gccatctgcc tgaccagctt
     1201 ggtgaccatg gcctttgttt ttgtgggtca agtgaacgtt ctggccccca tcgtcaccat
     1261 caacttcatg ctgacatacg ttgcagtgga ctactcttac ttctccctgt ccatgtgttc
     1321 ctgcagcctg accccggtgc ctgagccggt gctcagggag ggcgcagaag gcctccactg
     1381 ctctgagcac ctgctcttag agaaagctcc cagttacggc tctgagggac ctgcccaaag
     1441 agtcttggag ggcacgctac tggaattcac caaggacatg gatcagctcc tccagctaac
     1501 caggaagctt gagagtagcc agcccaggca aggagagggt aacaggaccc cagaaagtca
     1561 gaagaggaaa agcaagaagg ccaccaagca gaccctacaa gatagcttcc tcttggacct
     1621 caaatcccct ccttctttcc ctgtcgagat ctctgacagg ttgcccgctg cctcctggga
     1681 ggggcaggag tcctgctgga acaagcagac ttccaagagc gaagggactc agcctgaggg
     1741 aacatatgga gagcaacttg ttcctgagct gtgcaaccaa tcagagtcca gtggagaaga
     1801 tttcttcctg aagtccaggc tccaagaaca agatgtctgg agaagatcca cttctttcta
     1861 tacccacatg tgcaacccct gggtctccct gttgggggct gttgggtccc ttctcatcat
     1921 gtttgtgata cagtgggtgt ataccctggt taacatgggt gttgctgcca tcgtgtattt
     1981 ctacattggc cgggccagtc cagggcttca ccttggatca gcctccaact tcagcttttt
     2041 ccggtggatg aggtctctct tgctcccctc ctgcaggagc ttgcggtccc ctcaggagca
     2101 gatcatcttg gcgccgtccc tggctaaggt tgacatggag atgactcagc tcacccagga
     2161 gaatgcagac ttcgccactc gggatcgcta ccaccactcc tccctcgtga accgggagca
     2221 gctgatgcct cactactaga tgcagtgctg ggaccttcct cttttggagc tgtcccatgt
     2281 acagtggacc caagctcagg accttcgtgg agctgcttct ccaacctgag aaactcaaga
     2341 cccatcctcc cgctgtcact ttggacaatg gaaatctaca ttttcttttc cctttttttt
     2401 tttttttgag acagagtctc gccctgtcac ccaggctgga gtccagtggc acaatcttgg
     2461 ctcactgcaa cctctgcttc ccgagttcaa gcaattctcc tgcctcagcc tcctgagtag
     2521 ctgggattat aggcatgcac caccacaccc agctattttt tgtattttta ctggagacag
     2581 ggtttcacca tgttggccag gctggtctcg aactcctgac ctcgtgatcc acccgtctca
     2641 gcctcccaaa gtactgggat tacaggcgtg agccaccatg cctggccaga aatctatgtt
     2701 ttcttagaac atgtggaaga aggaaaaaga caaaaaagga aatctggatt ctgaggacca
     2761 cgtctcaccc agggtgacat caggaatggt gctagcctct gcaacacgac acccagtctg
     2821 aagagctcta tacaggtact aagactagca ggggacacca agactctgca caaccagatt
     2881 gcttgtgcag agggccacaa taagtgtatg ttttatattt tattgtatta tttattcaaa
     2941 aataaataat acactcacat gtttccacac ccaaaagata tatagagtga aaagtctccc
     3001 tccaatcctt attctccacc tgctcagttc ctgtctaccc tggcctagag gtaaccacta
     3061 ttctcatccg tacatccagc atttctttat ggatatacaa gcaaatggga atgtagagtc
     3121 tcacattctc tctttataca caaaagttag cacgttatac acatgttctg caccttgctt
     3181 ttttccctta acaatctatc ttggagacat ttcatatcaa ttcatatgcc atttgttcat
     3241 ttttttcatt gtataaatgt gttataattt atttcgccag ttccacaatg atgagcattt
     3301 ggattctttc caatcttttg caatgacaat cagctctgca gtgaataatc ttgtacaaat
     3361 gtgcaagcat aaagtgtatc tctaggataa attcccaaaa gtggaattgc aggatcaaaa
     3421 ggtacatgca tttgtaaact attattgttt agtgagggtc tttttaatta aagaattaac
     3481 atgaa
//
