LOCUS       NM_000891               5391 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 2 (KCNJ2), mRNA.
ACCESSION   NM_000891
VERSION     NM_000891.3
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 5391)
  AUTHORS   Li,E. and van der Heyden,M.A.G.
  TITLE     The network of cardiac KIR2.1: its function, cellular regulation,
            electrical signaling, diseases and new drug avenues
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 397 (9), 6369-6389 (2024)
   PUBMED   38683369
  REMARK    GeneRIF: The network of cardiac KIR2.1: its function, cellular
            regulation, electrical signaling, diseases and new drug avenues.
            Review article
REFERENCE   2  (bases 1 to 5391)
  AUTHORS   Moreno-Manuel,A.I., Macias,A., Cruz,F.M., Gutierrez,L.K.,
            Martinez,F., Gonzalez-Guerra,A., Martinez Carrascoso,I.,
            Bermudez-Jimenez,F.J., Sanchez-Perez,P., Vera-Pedrosa,M.L.,
            Ruiz-Robles,J.M., Bernal,J.A. and Jalife,J.
  TITLE     The Kir2.1E299V mutation increases atrial fibrillation
            vulnerability while protecting the ventricles against arrhythmias
            in a mouse model of short QT syndrome type 3
  JOURNAL   Cardiovasc Res 120 (5), 490-505 (2024)
   PUBMED   38261726
  REMARK    GeneRIF: The Kir2.1E299V mutation increases atrial fibrillation
            vulnerability while protecting the ventricles against arrhythmias
            in a mouse model of short QT syndrome type 3.
REFERENCE   3  (bases 1 to 5391)
  AUTHORS   Onore,M.E., Picillo,E., D'Ambrosio,P., Morra,S., Nigro,V. and
            Politano,L.
  TITLE     Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic
            Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report
  JOURNAL   Biomolecules 14 (4), 507 (2024)
   PUBMED   38672523
  REMARK    GeneRIF: Phenotypic Variability of Andersen-Tawil Syndrome Due to
            Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case
            Report.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5391)
  AUTHORS   Rong,Y., Zhou,X., Guo,Z., Zhang,Y., Qin,W., Li,L., Si,J., Yang,R.,
            Li,X. and Ma,K.
  TITLE     Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca
            2+ overload and the TGF-beta1/Smad signaling pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (5), 749-757 (2023)
   PUBMED   37184279
  REMARK    GeneRIF: Activation of Kir2.1 improves myocardial fibrosis by
            inhibiting Ca [2+] overload and the TGF-beta1/Smad signaling
            pathway.
REFERENCE   5  (bases 1 to 5391)
  AUTHORS   Wood,L.S., Tsai,T.D., Lee,K.S. and Vogeli,G.
  TITLE     Cloning and functional expression of a human gene, hIRK1, encoding
            the heart inward rectifier K+-channel
  JOURNAL   Gene 163 (2), 313-317 (1995)
   PUBMED   7590287
REFERENCE   6  (bases 1 to 5391)
  AUTHORS   Ashen,M.D., O'Rourke,B., Kluge,K.A., Johns,D.C. and Tomaselli,G.F.
  TITLE     Inward rectifier K+ channel from human heart and brain: cloning and
            stable expression in a human cell line
  JOURNAL   Am J Physiol 268 (1 Pt 2), H506-H511 (1995)
   PUBMED   7840300
REFERENCE   7  (bases 1 to 5391)
  AUTHORS   Raab-Graham,K.F., Radeke,C.M. and Vandenberg,C.A.
  TITLE     Molecular cloning and expression of a human heart inward rectifier
            potassium channel
  JOURNAL   Neuroreport 5 (18), 2501-2505 (1994)
   PUBMED   7696590
REFERENCE   8  (bases 1 to 5391)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
REFERENCE   9  (bases 1 to 5391)
  AUTHORS   Veerapandiyan,A., Statland,J.M. and Tawil,R.
  TITLE     Andersen-Tawil Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301441
REFERENCE   10 (bases 1 to 5391)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005242.1 and AF153820.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000891.2.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, probably participates in establishing
            action potential waveform and excitability of neuronal and muscle
            tissues. Mutations in this gene have been associated with Andersen
            syndrome, which is characterized by periodic paralysis, cardiac
            arrhythmias, and dysmorphic features. [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 :: AF153820.1, SRR11853566.12329.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243457.4/ ENSP00000243457.2
            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
            1-3                 AC005242.1         23517-23519
            4-5391              AF153820.1         1-5388
FEATURES             Location/Qualifiers
     source          1..5391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     gene            1..5391
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 2"
                     /db_xref="GeneID:3759"
                     /db_xref="HGNC:HGNC:6263"
                     /db_xref="MIM:600681"
     exon            1..170
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /inference="alignment:Splign:2.1.0"
     exon            171..5391
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             387..1670
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="inward rectifier K+ channel KIR2.1; cardiac inward
                     rectifier potassium channel; potassium voltage-gated
                     channel subfamily J member 2; IRK-1; hIRK1; potassium
                     channel, inwardly rectifying subfamily J, member 2"
                     /codon_start=1
                     /product="inward rectifier potassium channel 2"
                     /protein_id="NP_000882.1"
                     /db_xref="CCDS:CCDS11688.1"
                     /db_xref="GeneID:3759"
                     /db_xref="HGNC:HGNC:6263"
                     /db_xref="MIM:600681"
                     /translation="MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCR
                     SRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCV
                     FWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
                     VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLR
                     KSHLVEAHVRAQLLKSRITSEGEYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDED
                     SPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEILWGHRYEPVLFEEK
                     HYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSEN
                     GVPESTSTDTPPDIDLHNQASVPLEPRPLRRESEI"
     regulatory      5368..5373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="hexamer: AATAAA"
     polyA_site      5391
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="major polyA site"
ORIGIN      
        1 agagcgcact ggagccctgg ccagcgcgca gccttcccgg cgccggcggg ctgggtcttg
       61 ggaattctgg tttgctttgg ctcactcgct ttttacaaac cactggatct tacatgcctc
      121 tgtacccccc acttccactc catgtcccca tgctcctgcg ccagcaacag gacatgttct
      181 ctggatgtca gctgagtcat taaagtaact ctgcatgtca gtagacagac cttggtagaa
      241 ccacaaggct cccagagaca cccatctctc ctcatttttt tggtgtgtgt gtcttcaccg
      301 aacattcaaa actgtttctc caaagcgttt tgcaaaaact cagactgttt tccaaagcag
      361 aagcactgga gtccccagca gaagcgatgg gcagtgtgcg aaccaaccgc tacagcatcg
      421 tctcttcaga agaagacggt atgaagttgg ccaccatggc agttgcaaat ggctttggga
      481 acgggaagag taaagtccac acccgacaac agtgcaggag ccgctttgtg aagaaagatg
      541 gccactgtaa tgttcagttc atcaatgtgg gtgagaaggg gcaacggtac ctcgcagaca
      601 tcttcaccac gtgtgtggac attcgctggc ggtggatgct ggttatcttc tgcctggctt
      661 tcgtcctgtc atggctgttt tttggctgtg tgttttggtt gatagctctg ctccatgggg
      721 acctggatgc atccaaagag ggcaaagctt gtgtgtccga ggtcaacagc ttcacggctg
      781 ccttcctctt ctccattgag acccagacaa ccataggcta tggtttcaga tgtgtcacgg
      841 atgaatgccc aattgctgtt ttcatggtgg tgttccagtc aatcgtgggc tgcatcatcg
      901 atgctttcat cattggcgca gtcatggcca agatggcaaa gccaaagaag agaaacgaga
      961 ctcttgtctt cagtcacaat gccgtgattg ccatgagaga cggcaagctg tgtttgatgt
     1021 ggcgagtggg caatcttcgg aaaagccact tggtggaagc tcatgttcga gcacagctcc
     1081 tcaaatccag aattacttct gaaggggagt atatccctct ggatcaaata gacatcaatg
     1141 ttgggtttga cagtggaatc gatcgtatat ttctggtgtc cccaatcact atagtccatg
     1201 aaatagatga agacagtcct ttatatgatt tgagtaaaca ggacattgac aacgcagact
     1261 ttgaaatcgt ggtcatactg gaaggcatgg tggaagccac tgccatgacg acacagtgcc
     1321 gtagctctta tctagcaaat gaaatcctgt ggggccaccg ctatgagcct gtgctctttg
     1381 aagagaagca ctactacaaa gtggactatt ccaggttcca caaaacttac gaagtcccca
     1441 acactcccct ttgtagtgcc agagacttag cagaaaagaa atatatcctc tcaaatgcaa
     1501 attcattttg ctatgaaaat gaagttgccc tcacaagcaa agaggaagac gacagtgaaa
     1561 atggagttcc agaaagcact agtacggaca cgccccctga catagacctt cacaaccagg
     1621 caagtgtacc tctagagccc aggcccttac ggcgagagtc ggagatatga ctgactgatt
     1681 ccttctctgg aatagttact ttacaacacg gtctgttggt cagaggccca aaacagttat
     1741 acagatgacg gtactggtca agatgggtca agcaagcggc cacaagggac tgaggcaagc
     1801 acaatggttt caaagaaaga ctgtaagctc catgattagc ataaagcact aaccatgtct
     1861 ccatgtgacc cgatggcaca tagatgttgt agaataagtt atgggttttt atgttttgtt
     1921 ttgtgttttt ccaaaacttg aacttgcagg caagccttgg ttgggtattt gatttatcca
     1981 gaatgcttct ctttagggaa caaggatgtt tttaatggca taacaaaggc aagactctgc
     2041 cttaattttt gaaaagctgc taactacatg aacacaaatg tgtatttttg ttgcagtgta
     2101 gttttccttt tgtgtaattt taaagtcagt gttgaatttt attgaaagct catgatgcgc
     2161 ttcaaagtgg caagtatttg gctattaact gccaaaacaa gagcctgatt ttttgaggcc
     2221 agtaattcgt ttgctagaat tgattttttt tctctctctc tttgttacat aagggcatta
     2281 tgtaacacta gccgaatggt agcctctggg ttgttgtttt tttcttttcc tccatgatgt
     2341 taatgggtta tctcaaattt taagttaaac tacctaaaat aaataccaaa gataatgcat
     2401 atttttgcac agtggagctt acacttaaaa gaaaacaaag ccccatgggc tgccttgaaa
     2461 tcaagagaca ataactttga acctcagcaa gaccttgaac cgccggttca ttttgcacct
     2521 tattcagaaa atagagcatc atactcaccg agtctagtca gtgtagtgct tttaaaaatt
     2581 ttgtcctttc atgtaacttt tttattttaa gaggaagaag aagaaagggg cacacacaca
     2641 caataccgac gtctatcctt tcctgctagg cagtgctggc caggctcatg tgtagtgtgc
     2701 gagatggtga tgtactctta tatttttctg ggcttttcct tttgcacatt ccaaaattca
     2761 tttcataaga caagatcttc ataggacctc cttggcatcc tggcattctc aaaactgagc
     2821 catccagcat gaaagataaa tgggtttaaa cccttgctgc tgaatttatt gcctggactg
     2881 tcaggacatc accagcccac cttcacctta gggaagatgc cacacctggc ctccacactt
     2941 gctcttctga tcagtctgtc tggattgagt cctacagtgt cagatagggc ggcaaatgcc
     3001 aaagcaggga aacagggagg tgtggacaag ccagtttgat gcagcacttc agatcaagtg
     3061 cttaggaagg agaggaaact tgcctttttt atggcagagg atagtaatga aaatgtctca
     3121 gtattttagg gtcaatgaga gccataaaaa tataacataa tcacaagtaa aggagataat
     3181 ggtctaaaac agctatttcc cttttctgtg tgcatactta tgactgaatg tgagctaagc
     3241 attttctcct gtggagccct agagcaggtt actaaggaag gacacattgt tttccagaag
     3301 cctcccctgc ctggctgact gccttgctag aaacataatt ttttttttct cactgaagct
     3361 caataatgga actctttttt tttttttttt taatttaaag ttccctattt gtgaattctg
     3421 ggattactga cttttctttt taattggagt ctcaaaatca actctcttat ggtattatat
     3481 ctctgtatgc cattaaaaaa cagcttgttc tagaatcatg tattttgtaa actgatgttt
     3541 gtgatggtct ctggttcttg aacagccata tctgaatgcc gtgcctgcaa aactatgaca
     3601 atttttgctg ttttcagcct tcagatttga tggcttggga aactgaggtg ttattttcaa
     3661 tgaaacaaag aaagagatgt taagcaagtg gttgttttag atccaaatgt aaaggcaggt
     3721 ttgggaaggt gtttaaagag ttggaggaat tggggattga gttgtaaaga aaacttacag
     3781 aagaggcaac aatttggttc ttgacagtga gaggatattg agggcttcag ctgctgctat
     3841 tatgatgttt tgcaaaggaa aataatcaaa ccaaagagta ttcagtgata tgtaaattaa
     3901 atgaagatac agtggagaat gggggtgacc acaaaagagg ctccccctaa acacacagtg
     3961 ctgccactta aaaagacttg agaaatttga aagggggtgg gtatgggggg ggcaagaaag
     4021 agggagggaa atctttcaac ttatttctga aaaagagaaa aaaatataaa atttctggtg
     4081 cacaggtttg ttttttcaag aaaattttgc agaagctatg tttttaaagt gtacatttta
     4141 taaagtttat cagatatttt catatttaaa gccaaatgta aatagaggtc tgtaaagaaa
     4201 aataattgcc atagaaagta taatttcagt gcagtaattt ctgagagcta gtacctatat
     4261 gctaccggtt agcatggttt tagcaaatat ataccagcct tataaggttc gtattgctat
     4321 gttcttctgt tatttatttc agcatggact gttcatttga aacctttttc tagttattag
     4381 cgttttaaca gttacaagct ttaaatggca attttttttt tttttttttt tttttttttt
     4441 tttttgtcaa gagccaagac acaggtaatg cacgacattg attgctgcat tttaccttca
     4501 aaatatttgt ccttattgac tgggtctcct taattaatgt acacatgtca ttagaatgca
     4561 gacggagggg actcaccatg aatatctggg gttgattccc agatgtgtgt tgcttctcta
     4621 ttgcaagcag attccctgtt ggatttactt cggatttatt cccttttaaa gaatttttgc
     4681 ccatatctgg aagggcacta tatttttggg aggagccata gattcctggt tatcctattt
     4741 ttaaacaaaa tgtagacaaa gtgaactcta ttttgattat tgagaaagga gtagttttct
     4801 atccctctaa gagtatactt gaatcagaca ttttaaggat gtcactatgg cactgttgtc
     4861 atttccaaat tcctagaaaa gtttgtttta ctttgttttt attctgttaa tgcattcttt
     4921 cttctcttta cttcctttct taccagtaca ctcctatctc aactctgttt atttgatgag
     4981 ttctgtcccg taaatcatat ttcccttaca attaataaat gtcacttcat attttataat
     5041 aaaccactca gtaaaagcaa aagcttgtcc tgagaagtag agtgagttct ttttcactct
     5101 gtgtctaata atgttaaggt gggaaaaaaa aaagtgtggc atagctacct gcccatcccc
     5161 aaccctcagc aaagtagaat ctcttttctg gtaattttgg gtttccgctc tgggctctgg
     5221 caagttgaac aatcctagcc attgacaatc gtgatagtta ttattttccc atttgctgtc
     5281 tttttgtatc taaagtcttc ctattgtact gcacaaacca tggattgtac atatttttat
     5341 atattatgtc ttattttatt atttctaaat aaaaaaatta aaaattgaaa a
//
