LOCUS       NM_001194958            2196 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 18 (KCNJ18), mRNA.
ACCESSION   NM_001194958 XM_001720057
VERSION     NM_001194958.2
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 2196)
  AUTHORS   Park,S.S., Ponce-Balbuena,D., Kuick,R., Guerrero-Serna,G., Yoon,J.,
            Mellacheruvu,D., Conlon,K.P., Basrur,V., Nesvizhskii,A.I.,
            Jalife,J. and Rual,J.F.
  TITLE     Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the
            Kir2.1-Regulated Inward Rectifier Potassium Currents
  JOURNAL   Mol Cell Proteomics 19 (9), 1436-1449 (2020)
   PUBMED   32541000
REFERENCE   2  (bases 1 to 2196)
  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   3  (bases 1 to 2196)
  AUTHORS   Noso,S., Babaya,N., Hiromine,Y., Ito,H., Taketomo,Y., Yoshida,S.,
            Niwano,F., Monobe,K., Minohara,T., Okada,T., Tsugawa,M.,
            Kawabata,Y. and Ikegami,H.
  TITLE     Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and
            Ethnic Differences in Thyrotoxic Periodic Paralysis
  JOURNAL   J Clin Endocrinol Metab 104 (12), 6338-6344 (2019)
   PUBMED   31361309
  REMARK    GeneRIF: Single-nucleotide variant in KCNJ18 gene is associated
            with Thyrotoxic Periodic Paralysis.
REFERENCE   4  (bases 1 to 2196)
  AUTHORS   Paninka,R.M., Carlos-Lima,E., Lindsey,S.C., Kunii,I.S.,
            Dias-da-Silva,M.R. and Arcisio-Miranda,M.
  TITLE     Down-regulation of Kir2.6 channel by c-termini mutation D252N and
            its association with the susceptibility to Thyrotoxic Periodic
            Paralysis
  JOURNAL   Neuroscience 346, 197-202 (2017)
   PUBMED   28131627
  REMARK    GeneRIF: Study describes the functional consequences of a single
            amino acid change in Kir2.6 channel. The D252N mutation
            down-regulates the Kir2.6 activity, decreasing the K+ current
            density ( approximately 34%) when compared to the wildtype channel;
            whereas the mutation R386C shows no significant changes from
            wildtype.
REFERENCE   5  (bases 1 to 2196)
  AUTHORS   Zheng,J., Liang,Z., Hou,Y., Liu,F., Hu,Y., Lin,P. and Yan,C.
  TITLE     A novel Kir2.6 mutation associated with hypokalemic periodic
            paralysis
  JOURNAL   Clin Neurophysiol 127 (6), 2503-2508 (2016)
   PUBMED   27178871
  REMARK    GeneRIF: A novel KCNJ18 mutation, G169R, identified in the
            hypokalemic periodic paralysis patient demonstrated a significant
            functional defect in vitro.
REFERENCE   6  (bases 1 to 2196)
  AUTHORS   Chu,P.Y., Cheng,C.J., Tseng,M.H., Yang,S.S., Chen,H.C. and Lin,S.H.
  TITLE     Genetic variant rs623011 (17q24.3) associates with non-familial
            thyrotoxic and sporadic hypokalemic paralysis
  JOURNAL   Clin Chim Acta 414, 105-108 (2012)
   PUBMED   22910584
  REMARK    GeneRIF: TPP and SPP have the same susceptible gene variant
            rs623011 and may share the pathogenic mechanism of reduced Kir
            current in skeletal muscle independent of thyroid hormone.
REFERENCE   7  (bases 1 to 2196)
  AUTHORS   Cheng,C.J., Lin,S.H., Lo,Y.F., Yang,S.S., Hsu,Y.J., Cannon,S.C. and
            Huang,C.L.
  TITLE     Identification and functional characterization of Kir2.6 mutations
            associated with non-familial hypokalemic periodic paralysis
  JOURNAL   J Biol Chem 286 (31), 27425-27435 (2011)
   PUBMED   21665951
  REMARK    GeneRIF: suggest that decreased outward K(+) current from
            hypofunction of Kir2.6 predisposes the sarcolemma to
            hypokalemia-induced paradoxical depolarization during attacks,
            which in turn leads to Na(+) channel inactivation and
            inexcitability of muscles
            Erratum:[J Biol Chem. 2011 Sep 23;286(38):33707]
REFERENCE   8  (bases 1 to 2196)
  AUTHORS   Dassau,L., Conti,L.R., Radeke,C.M., Ptacek,L.J. and Vandenberg,C.A.
  TITLE     Kir2.6 regulates the surface expression of Kir2.x inward rectifier
            potassium channels
  JOURNAL   J Biol Chem 286 (11), 9526-9541 (2011)
   PUBMED   21209095
  REMARK    GeneRIF: Kir2.6 regulates the surface expression of Kir2.x inward
            rectifier potassium channels.
REFERENCE   9  (bases 1 to 2196)
  AUTHORS   Ryan,D.P., da Silva,M.R., Soong,T.W., Fontaine,B., Donaldson,M.R.,
            Kung,A.W., Jongjaroenprasert,W., Liang,M.C., Khoo,D.H., Cheah,J.S.,
            Ho,S.C., Bernstein,H.S., Maciel,R.M., Brown,R.H. Jr. and
            Ptacek,L.J.
  TITLE     Mutations in potassium channel Kir2.6 cause susceptibility to
            thyrotoxic hypokalemic periodic paralysis
  JOURNAL   Cell 140 (1), 88-98 (2010)
   PUBMED   20074522
  REMARK    GeneRIF: While sequencing candidate genes, we identified a
            previously unreported gene (not present in human sequence
            databases) that encodes an inwardly rectifying potassium (Kir)
            channel, Kir2.6.
REFERENCE   10 (bases 1 to 2196)
  AUTHORS   Weber,F. and Lehmann-Horn,F.
  TITLE     Hypokalemic Periodic Paralysis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301512
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233702.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 21, 2011 this sequence version replaced NM_001194958.1.
            
            Summary: This gene encodes a member of the inwardly rectifying
            potassium channel family. Transcription of this locus is regulated
            by thyroid hormone, and the encoded protein plays a role in resting
            membrane potential maintenance. Mutations in this locus have been
            associated with thyrotoxic hypokalemic periodic paralysis.
            [provided by RefSeq, Jan 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: FJ434338.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000567955.3/ ENSP00000457807.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-192               AC233702.5         214315-214506
            193-314             AC233702.5         217775-217896
            315-2196            AC233702.5         224523-226404
FEATURES             Location/Qualifiers
     source          1..2196
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..2196
                     /gene="KCNJ18"
                     /gene_synonym="KIR2.6; TTPP2"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 18"
                     /db_xref="GeneID:100134444"
                     /db_xref="HGNC:HGNC:39080"
                     /db_xref="MIM:613236"
     exon            1..192
                     /gene="KCNJ18"
                     /gene_synonym="KIR2.6; TTPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            193..314
                     /gene="KCNJ18"
                     /gene_synonym="KIR2.6; TTPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            315..2196
                     /gene="KCNJ18"
                     /gene_synonym="KIR2.6; TTPP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             371..1672
                     /gene="KCNJ18"
                     /gene_synonym="KIR2.6; TTPP2"
                     /note="thyrotoxic periodic paralysis susceptibility ion
                     channel; potassium channel, inwardly rectifying subfamily
                     J, member 18; inward rectifier K(+) channel Kir2.6;
                     inwardly rectifying potassium channel 18; potassium
                     voltage-gated channel subfamily J member 18"
                     /codon_start=1
                     /product="inward rectifier potassium channel 18"
                     /protein_id="NP_001181887.2"
                     /db_xref="CCDS:CCDS74015.1"
                     /db_xref="GeneID:100134444"
                     /db_xref="HGNC:HGNC:39080"
                     /db_xref="MIM:613236"
                     /translation="MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRN
                     RFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIF
                     WVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVF
                     MVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNL
                     RKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDE
                     ASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEE
                     KNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEA
                     DGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI"
ORIGIN      
        1 agcaggccac agggaggctt gggcacagtc agctttccgt cctgttggga agcctgtttc
       61 tgctttcagt gcctacgtgg tgtcaggaac gccggtcaca gtgaacgcct gcaggaccca
      121 cactgctgca tcgtctctgt gggacagata ctgaagccag ggcttggctt accctcgtga
      181 cagtctcccg aggatgttct agtgactgga tcctttccag ctggtgcctg ggaaatggca
      241 gccactacta attcagcctt gaagacagta ccgtgcctac tcagcaccat tacgtagaag
      301 acagaactca agaggagccg ccctgcctgg agctagcctg ggggtgagcc agggtccccc
      361 aacccccggg atgaccgcgg ccagccgggc caacccctac agcatcgtgt cattggagga
      421 ggacgggctg cacctggtca ccatgtcggg cgccaacggc ttcggcaacg gcaaggtgca
      481 cacgcggcgc aggtgccgca accgcttcgt caagaagaat ggccagtgca acattgcgtt
      541 cgccaacatg gacgagaagt cacagcgcta cctggctgac atgttcacca cctgtgtgga
      601 catccgctgg cgctacatgc tgctcatctt ctcgctggcc ttccttgcct cctggctgct
      661 gttcggcgtc atcttctggg tcatcgcggt ggcacacggt gacctggagc cggctgaggg
      721 ccacggccgc acaccctgtg tgatgcaggt gcacggcttc atggcggcct tcctcttctc
      781 catcgagacg cagaccacca tcggctacgg gctgcgctgt gtgacggagg agtgcctggt
      841 ggccgtcttc atggtggtgg cccagtccat cgtgggctgc atcatcgact ccttcatgat
      901 tggtgccatc atggccaaga tggcaaggcc caagaagcgg gcacagacgc tgctgttcag
      961 ccacaacgcc gtggtggccc tgcgtgacgg caagctctgc ctcatgtggc gtgtgggcaa
     1021 cctgcgcaag agccacattg tggaggccca tgtgcgcgcg cagctcatca agccgcgggt
     1081 caccgaggag ggcgagtaca tcccgctgga ccagatcgac atcgatgtgg gcttcgacaa
     1141 gggcctggac cgcatctttc tggtgtcgcc catcaccatc ttgcatgaaa ttgacgaggc
     1201 cagcccgctc ttcggcatca gccggcagga cctggagacg gacgactttg agatcgtggt
     1261 catcctggaa ggcatggtgg aggccacagc catgaccacc caggcccgca gctcctacct
     1321 ggccaatgag atcctgtggg gtcaccgctt tgagcccgtg ctcttcgagg agaagaacca
     1381 gtacaagatt gactactcgc acttccacaa gacctatgag gtgccctcta cgccccgctg
     1441 cagtgcgaag gatctggtag agaacaagtt cctgctgccc agtgccaact ccttctgcta
     1501 tgagaacgag ctggccttcc tgagccgtga cgaggaggat gaggcggacg gagaccagga
     1561 cggccgaagc cgggatggcc tcagccccca ggccaggcat gactttgaca gactccaggc
     1621 tggcggcggg gtcctggagc agcggcccta cagacggggg tcagagatct gagccaacct
     1681 tggccgacat gcagcatcca cccctggccg gggagaggcc ccgcggtcgc tcaggggccc
     1741 tgggtttgag cagaacgggc ccagtgccct gggttgcaga ctcagtagcg ttttagtcgt
     1801 tttatgtttc tttgcaaagg cctcagaagg ttggccggag agggggcagc cagagcggca
     1861 gcccccggcc tcagaggcta tcacaggctc agggcaaaga agtggcctcc tggggggcca
     1921 ggccacgggg gccagggctt ctgcctgaag atggagctgc agcctgcggg gaagcagccc
     1981 agctcgatgg tgggcccagc ctctgctgtc caaggctggc tagctgcggt gctccttgct
     2041 ggtttttaac ttggggagaa acaccgggtt tcagctttct cgaccttagc ttgggtgaga
     2101 ctgtttacaa aaaaaaaaaa aaccatgcaa ttggagaaaa aaattttaat tcataggggg
     2161 caaaaagaac aattagaatt ccatgggtct gccagg
//
