LOCUS       NM_000525               3412 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 11 (KCNJ11), transcript variant 1, mRNA.
ACCESSION   NM_000525
VERSION     NM_000525.4
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 3412)
  AUTHORS   Abdelazem,A.S., Gaber,O.A., Hussein,S., Nasr,F.M.E., M
            Elshorbagy,E.A., Ibrahim,S.M., Abdel-Hameed,A.M., Rashad,M.H.,
            El-Shal,A.S. and Abdelnabi,A.M.
  TITLE     Potassium inwardly-rectifying channel subfamily J member 11
            (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients: a
            single-center study
  JOURNAL   Mol Biol Rep 51 (1), 1129 (2024)
   PUBMED   39508922
  REMARK    GeneRIF: Potassium inwardly-rectifying channel subfamily J member
            11 (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients:
            a single-center study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3412)
  AUTHORS   Elangeeb,M.E., Elfaki,I., Eleragi,A.M.S., Ahmed,E.M., Mir,R.,
            Alzahrani,S.M., Bedaiwi,R.I., Alharbi,Z.M., Mir,M.M., Ajmal,M.R.,
            Tayeb,F.J. and Barnawi,J.
  TITLE     Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential
            Association with Diabetes Mellitus
  JOURNAL   Molecules 29 (8), 1904 (2024)
   PUBMED   38675722
  REMARK    GeneRIF: Molecular Dynamics Simulation of Kir6.2 Variants Reveals
            Potential Association with Diabetes Mellitus.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3412)
  AUTHORS   Alp,E., Doguizi,S., Mutlu Icduygu,F., Akgun,E., Sekeroglu,M.A. and
            Ozer,M.A.
  TITLE     An analysis of the relationship between ABCC8 and KCNJ11 gene
            polymorphisms and diabetic retinopathy in Turkish population
  JOURNAL   Ophthalmic Genet 45 (2), 126-132 (2024)
   PUBMED   38411150
  REMARK    GeneRIF: An analysis of the relationship between ABCC8 and KCNJ11
            gene polymorphisms and diabetic retinopathy in Turkish population.
REFERENCE   4  (bases 1 to 3412)
  AUTHORS   Ashfield,R. and Ashcroft,S.J.
  TITLE     Cloning of the promoters for the beta-cell ATP-sensitive K-channel
            subunits Kir6.2 and SUR1
  JOURNAL   Diabetes 47 (8), 1274-1280 (1998)
   PUBMED   9703328
REFERENCE   5  (bases 1 to 3412)
  AUTHORS   Iwasaki,N., Kawamura,M., Yamagata,K., Cox,N.J., Karibe,S.,
            Ohgawara,H., Inagaki,N., Seino,S., Bell,G.I. and Omori,Y.
  TITLE     Identification of microsatellite markers near the human genes
            encoding the beta-cell ATP-sensitive K+ channel and linkage studies
            with NIDDM in Japanese
  JOURNAL   Diabetes 45 (2), 267-269 (1996)
   PUBMED   8549873
REFERENCE   6  (bases 1 to 3412)
  AUTHORS   Inagaki,N., Gonoi,T., Clement,J.P. 4th, Namba,N., Inazawa,J.,
            Gonzalez,G., Aguilar-Bryan,L., Seino,S. and Bryan,J.
  TITLE     Reconstitution of IKATP: an inward rectifier subunit plus the
            sulfonylurea receptor
  JOURNAL   Science 270 (5239), 1166-1170 (1995)
   PUBMED   7502040
REFERENCE   7  (bases 1 to 3412)
  AUTHORS   Thomas,P.M., Cote,G.J., Hallman,D.M. and Mathew,P.M.
  TITLE     Homozygosity mapping, to chromosome 11p, of the gene for familial
            persistent hyperinsulinemic hypoglycemia of infancy
  JOURNAL   Am J Hum Genet 56 (2), 416-421 (1995)
   PUBMED   7847376
REFERENCE   8  (bases 1 to 3412)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   9  (bases 1 to 3412)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   10 (bases 1 to 3412)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124798.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 17, 2020 this sequence version replaced NM_000525.3.
            
            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, is controlled by G-proteins and is found
            associated with the sulfonylurea receptor SUR. Mutations in this
            gene are a cause of familial persistent hyperinsulinemic
            hypoglycemia of infancy (PHHI), an autosomal recessive disorder
            characterized by unregulated insulin secretion. Defects in this
            gene may also contribute to autosomal dominant
            non-insulin-dependent diabetes mellitus type II (NIDDM), transient
            neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal
            diabetes mellitus (PNDM). Multiple alternatively spliced transcript
            variants that encode different protein isoforms have been described
            for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 is intronless :: BC064497.1, AK314943.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339994.5/ ENSP00000345708.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3412              AC124798.5         35105-38516         c
FEATURES             Location/Qualifiers
     source          1..3412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..3412
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 11"
                     /db_xref="GeneID:3767"
                     /db_xref="HGNC:HGNC:6257"
                     /db_xref="MIM:600937"
     exon            1..3412
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /inference="alignment:Splign:2.1.0"
     CDS             569..1741
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     beta-cell inward rectifier subunit; ATP-sensitive inward
                     rectifier potassium channel 11; inwardly rectifying
                     potassium channel KIR6.2; potassium channel inwardly
                     rectifing subfamily J member 11; inward rectifier K(+)
                     channel Kir6.2; potassium channel, inwardly rectifying
                     subfamily J member 11; inwardly-rectifying potassium
                     channel subfamily J member 11; inwardly rectifing
                     potassium channel subfamily J member 11; potassium
                     voltage-gated channel subfamily J member 11"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     11 isoform 1"
                     /protein_id="NP_000516.3"
                     /db_xref="CCDS:CCDS31436.1"
                     /db_xref="GeneID:3767"
                     /db_xref="HGNC:HGNC:6257"
                     /db_xref="MIM:600937"
                     /translation="MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNV
                     AHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAP
                     SEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
                     AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQ
                     VVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLH
                     HHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFG
                     NTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS"
     regulatory      2781..2786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="hexamer: AATAAA"
     polyA_site      2807
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="major polyA site"
     regulatory      3400..3405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="hexamer: AACAAG"
     polyA_site      3412
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="major polyA site"
ORIGIN      
        1 ggcagggttg ggggctccct aggcgccagg caggtgggct caagggtgag gctgtttttt
       61 ttgttttgtt ttttgttttt gagacggagt ctcgctctgt cgcccaggct ggagtgcagt
      121 ggcgtgatct tggctcactg caacctccgc ctctcgggtt caagcgattc tcctgcctca
      181 gcttcctgag tagctgggat tacaggtgcg caccaccatg cccggctaac ttttgtattt
      241 ttagtagaga tggggtttca ccatgttggt caggctggtc tcgaactcct gacctagtga
      301 tctgccctcc tcagcctccc aacgtactgg gattacaggc gtgagccacc gcgcccggcc
      361 tgaggctggt attaagaagt gaagtgggac ccaggtggag gtaaggaaga gtctggtggg
      421 gagttatctc agaagtgagg ccagcacagg ctgagtgcag ccccagggtg agaaggtgcc
      481 caccgagagg actctgcagt gaggccctag gccacgtccg aggggtgcct ccgatggggg
      541 aagcccctcc ctgggggtca ccggagccat gctgtcccgc aagggcatca tccccgagga
      601 atacgtgctg acacgcctgg cagaggaccc tgccaagccc aggtaccgtg cccgccagcg
      661 gagggcccgc tttgtgtcca agaaaggcaa ctgcaacgtg gcccacaaga acatccggga
      721 gcagggccgc ttcctgcagg acgtgttcac cacgctggtg gacctcaagt ggccacacac
      781 attgctcatc ttcaccatgt ccttcctgtg cagctggctg ctcttcgcca tggcctggtg
      841 gctcatcgcc ttcgcccacg gtgacctggc ccccagcgag ggcactgctg agccctgtgt
      901 caccagcatc cactccttct cgtctgcctt ccttttctcc attgaggtcc aagtgactat
      961 tggctttggg gggcgcatgg tgactgagga gtgcccactg gccatcctga tcctcatcgt
     1021 gcagaacatc gtggggctca tgatcaacgc catcatgctt ggctgcatct tcatgaagac
     1081 tgcccaagcc caccgcaggg ctgagaccct catcttcagc aagcatgcgg tgatcgccct
     1141 gcgccacggc cgcctctgct tcatgctacg tgtgggtgac ctccgcaaga gcatgatcat
     1201 cagcgccacc atccacatgc aggtggtacg caagaccacc agccccgagg gcgaggtggt
     1261 gcccctccac caggtggaca tccccatgga gaacggcgtg ggtggcaaca gcatcttcct
     1321 ggtggccccg ctgatcatct accatgtcat tgatgccaac agcccactct acgacctggc
     1381 acccagcgac ctgcaccacc accaggacct cgagatcatc gtcatcctgg aaggcgtggt
     1441 ggaaaccacg ggcatcacca cccaggcccg cacctcctac ctggccgatg agatcctgtg
     1501 gggccagcgc tttgtgccca ttgtagctga ggaggacgga cgttactctg tggactactc
     1561 caagtttggc aacaccgtca aagtgcccac accactctgc acggcccgcc agcttgatga
     1621 ggaccacagc ctactggaag ctctgaccct cgcctcagcc cgcgggcccc tgcgcaagcg
     1681 cagcgtgccc atggccaagg ccaagcccaa gttcagcatc tctccagatt ccctgtcctg
     1741 agccatggtc tctcgggccc cccacacgcg tgtgtacaca cggaccatgt ggtatgtagc
     1801 ccggccaggg cctggtgtga ggctgggcca gcctcagctc agcctccccc tgctgctcat
     1861 ccagggtgtt acaaggcact tgtcactatg ctatttctgg cctcagcagg aacctgtact
     1921 gggttatttt tgtccctgct cctcccaacc caattcagga ctggctcacc cctctccccc
     1981 gcccaaggct gcagaggctg tgggaggtac tgggccctag agctgtgcgt ccagccagtc
     2041 ctgggtcccc acgattgacc agccacactc tgggccggtg gctggggaag aacaatcccc
     2101 gagggctgct gctttgcgtc tgtggctcca agaagtgcct gtggtcaggc cccagctcta
     2161 cttggtccct gaaaaagcac ctggctaagg gctgggcctg gccagcaggg agggcagttg
     2221 atgagagagg gtgttcccgc tggagggttg gtgctgtgga gcctacaccg gcagggacag
     2281 cctggggctg acagggctcc cctccgaggg ccagtttcag gtctggaagg ggaggaagca
     2341 ggggaaggtg acctgaggag gctcggcttt gtagagcccc gctcaggcac agggaggagg
     2401 agatgccagg gctcctgcct tttgccacat cggcctcgtg cagtgagggc tctgtgggct
     2461 ggggctgctg cccctgccta cctcctgcct gtccccagag gctgaggaga gggggtactg
     2521 tgcccaccac acatgattag gcctcagacc caactctggt cctggctcca caacagtggc
     2581 tgccactcac tttgtccaga aggtggcttg ggggtggata tctttgggtt gctggaaaag
     2641 gtgtgggaag gttcaggatg gtgggaggga ctgaggtccc tgaggtgaag aggcccttgg
     2701 tcctgacggg tttgacccgt gcctggaccc ttggagcagt gttgtgtgaa cttgcctaga
     2761 actctgcctt ctccgttgtc aataaagcct ccccctcatg acctaaactc tgggcttttc
     2821 ttgctgggga ggcagcaagc atgctggtgg gaagggaggc agggactggc agctgccacc
     2881 cccttcaaga ggcgccatag accctagcgg ggagggcagg ggagggacgg aaggctggca
     2941 cctcttccac cagttcaggg ggactttccc ctctcctgtc tcaggtggcc cagccctgtc
     3001 agcctgtctg gccaactcag cctttgggca ctcaccaggc tttgcagccc tgggctctgt
     3061 ctctactccc agggacctgc tggaaggctg gagtgcccag ggagaggtat agaggtgtca
     3121 taggcattag tgtagtaatt ggagcactaa ctctcgagcc aactgcctgg gttcgaatcc
     3181 tggctctagc tgtatgactt ttgtcaagta acttagcctc tctgtgtctc agttgcctct
     3241 tctataacat ggatgctaat agtacctacc tcatagaatt gttttggaag taaatgaaaa
     3301 atatgtaaaa tgctgaagtg cctggtctac agtaagtgct caataaatgt taactattgt
     3361 gattgctgct gaatcagcta catgctgagg aaacggccaa acaagtgtta aa
//
