LOCUS       NM_021012               5263 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 12 (KCNJ12), mRNA.
ACCESSION   NM_021012 NM_002244 XM_939575
VERSION     NM_021012.5
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 5263)
  AUTHORS   Li,G., Guo,B.Y., Wang,H.D., Lin,G.T., Lan,T.J., Ying,H. and Xu,J.
  TITLE     CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for
            playing oncogenic roles in bladder cancer via upregulating KCNJ12
            expression
  JOURNAL   Cell Biol Toxicol 38 (6), 1079-1096 (2022)
   PUBMED   34755307
  REMARK    GeneRIF: CircRNA hsa_circ_0014130 function as a miR-132-3p sponge
            for playing oncogenic roles in bladder cancer via upregulating
            KCNJ12 expression.
REFERENCE   2  (bases 1 to 5263)
  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 5263)
  AUTHORS   Fan,C., Kuhn,M., Mbiol,A.P., Groome,J., Winston,V., Biskup,S.,
            Lehmann-Horn,F. and Jurkat-Rott,K.
  TITLE     Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic
            paralysis
  JOURNAL   Acta Myol 37 (3), 193-203 (2018)
   PUBMED   30838349
  REMARK    GeneRIF: Therefore, we conclude that Kir2.2 p.Thr140Met may be most
            safely interpreted as a SPP susceptibility variant and it should be
            included in the genetic testing scheme for diagnosing SPP.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5263)
  AUTHORS   Sundell,G.N., Arnold,R., Ali,M., Naksukpaiboon,P., Orts,J.,
            Guntert,P., Chi,C.N. and Ivarsson,Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5263)
  AUTHORS   Khalilipour,N., Baranova,A., Jebelli,A., Heravi-Moussavi,A.,
            Bruskin,S. and Abbaszadegan,M.R.
  TITLE     Familial Esophageal Squamous Cell Carcinoma with damaging
            rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes
  JOURNAL   Cancer Genet 221, 46-52 (2018)
   PUBMED   29405996
  REMARK    GeneRIF: Four of these 16 variants were rare damaging mutations
            including novel mutations in KCNJ12/KCNJ18, and GPRIN2 genes. This
            WES study in Iranian patients with ESCC, provides insight into the
            identification of novel germline mutations in familial ESCC. Our
            data suggest an association between specific mutations and
            increased risk of ESCC
REFERENCE   6  (bases 1 to 5263)
  AUTHORS   Gallagher,P.G. and Forget,B.G.
  TITLE     An alternate promoter directs expression of a truncated,
            muscle-specific isoform of the human ankyrin 1 gene
  JOURNAL   J Biol Chem 273 (3), 1339-1348 (1998)
   PUBMED   9430667
REFERENCE   7  (bases 1 to 5263)
  AUTHORS   Hugnot,J.P., Pedeutour,F., Le Calvez,C., Grosgeorge,J., Passage,E.,
            Fontes,M. and Lazdunski,M.
  TITLE     The human inward rectifying K+ channel Kir 2.2 (KCNJ12) gene: gene
            structure, assignment to chromosome 17p11.1, and identification of
            a simple tandem repeat polymorphism
  JOURNAL   Genomics 39 (1), 113-116 (1997)
   PUBMED   9027495
REFERENCE   8  (bases 1 to 5263)
  AUTHORS   Namba,N., Mori,R., Tanaka,H., Kondo,I., Narahara,K. and Seino,Y.
  TITLE     The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1)
            maps to 17p11.2-->p11.1
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 85-87 (1997)
   PUBMED   9533018
REFERENCE   9  (bases 1 to 5263)
  AUTHORS   Namba,N., Inagaki,N., Gonoi,T., Seino,Y. and Seino,S.
  TITLE     Kir2.2v: a possible negative regulator of the inwardly rectifying
            K+ channel Kir2.2
  JOURNAL   FEBS Lett 386 (2-3), 211-214 (1996)
   PUBMED   8647284
REFERENCE   10 (bases 1 to 5263)
  AUTHORS   Wible,B.A., De Biasi,M., Majumder,K., Taglialatela,M. and
            Brown,A.M.
  TITLE     Cloning and functional expression of an inwardly rectifying K+
            channel from human atrium
  JOURNAL   Circ Res 76 (3), 343-350 (1995)
   PUBMED   7859381
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068418.5, BC027982.1,
            DA115102.1, BM799671.1 and AK024229.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021012.4.
            
            Summary: This gene encodes an inwardly rectifying K+ channel which
            may be blocked by divalent cations. This protein is thought to be
            one of multiple inwardly rectifying channels which contribute to
            the cardiac inward rectifier current (IK1). The gene is located
            within the Smith-Magenis syndrome region on chromosome 17.
            [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 :: BC027982.1, SRR3476690.816380.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000583088.6/ ENSP00000463778.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AC068418.5         101135-101164
            31-516              BC027982.1         12-497
            517-518             AC068418.5         101651-101652
            519-2485            BC027982.1         500-2466
            2486-2513           DA115102.1         132-159
            2514-2515           AC068418.5         141899-141900
            2516-2919           DA115102.1         161-564
            2920-3484           BM799671.1         118-682
            3485-3487           AC068418.5         142870-142872
            3488-4722           AK024229.1         926-2160
            4723-5260           AK024229.1         2163-2700
            5261-5263           AC068418.5         144646-144648
FEATURES             Location/Qualifiers
     source          1..5263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..5263
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 12"
                     /db_xref="GeneID:3768"
                     /db_xref="HGNC:HGNC:6258"
                     /db_xref="MIM:602323"
     exon            1..557
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            558..679
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            680..5263
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             736..2037
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /note="potassium channel, inwardly rectifying subfamily J,
                     member 12; potassium voltage-gated channel subfamily J
                     member 12"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     12"
                     /protein_id="NP_066292.2"
                     /db_xref="CCDS:CCDS11219.1"
                     /db_xref="GeneID:3768"
                     /db_xref="HGNC:HGNC:6258"
                     /db_xref="MIM:602323"
                     /translation="MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRN
                     RFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGIIF
                     WVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVF
                     MVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNL
                     RKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDE
                     ASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEE
                     KNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEA
                     DGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI"
     regulatory      5239..5244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /note="hexamer: ATTAAA"
     polyA_site      5263
                     /gene="KCNJ12"
                     /gene_synonym="hIRK; hIRK1; hkir2.2x; IRK-2; IRK2;
                     kcnj12x; KCNJN1; Kir2.2"
                     /note="major polyA site"
ORIGIN      
        1 gagttgccga gctgagctcc ggtggagcga ggcgcggagc tgggtgcgcg ccgagcctct
       61 gcctcccgcc gcctcctcgc cctccattcc tcgctccccg tcttctcccg gccacaccgc
      121 cactgctgcc gcctccctgg gaacagtagc cgggggaggg ggactggcgc ggtcagagcc
      181 tgcgaggagg tgcggggcgc cggggcgtag gggagcgcgc cgggccctgc ccgagatcag
      241 ataacagccg gcgggggagg gggtgggccg gccgtgctca cagccggacc gagggaccga
      301 cgccagccgc cccggcccaa gcgagcgccc agcggccggg ggcgccgtcc aggcgcgcgc
      361 ccccgacccg tggctggacc agggcgatcc gctttgcaga gaagacgcgc ccctcggcat
      421 ggagcgcccc cgggagctgc cctgaggcgg tggcggcagc ggcggcgatg cagccagcgc
      481 ggcagctgcc ggggccagga acggccgccc ggagcttgga ggacgccgag cgcgccgcgc
      541 ccgggccact gaccgaggat gttctagtga ctggatcctt tccagttggt gcctgggaaa
      601 tggcagccac tactaattca gccttgaaga cagtaccgtg cccactcagc accattacat
      661 agaagataga actcaagagg agccgccctg cctggagcta gcctgggggc gagccagggt
      721 cccccaaccc ccgggatgac cgcggccagc cgggccaacc cctacagcat cgtgtcatcg
      781 gaggaggacg ggctgcacct ggtcaccatg tcgggcgcca acggcttcgg caacggcaag
      841 gtgcacacgc ggcgcaggtg ccgcaaccgc ttcgtcaaga agaatggcca gtgcaacatt
      901 gagttcgcca acatggacga gaagtcacag cgctacctgg ctgacatgtt caccacctgt
      961 gtggacatcc gctggcggta catgctgctc atcttctcgc tggccttcct tgcctcctgg
     1021 ctgctgttcg gcatcatctt ctgggtcatc gcggtggcac acggtgacct ggagccggct
     1081 gagggccggg gccgcacacc ctgtgtgatg caggtgcacg gcttcatggc ggccttcctc
     1141 ttctccatcg agacgcagac caccatcggc tacgggctgc gctgtgtgac ggaggagtgc
     1201 ccggtggccg tcttcatggt ggtggcccag tccatcgtgg gctgcatcat cgactccttc
     1261 atgattggtg ccatcatggc caagatggca aggcccaaga agcgggcaca gacgctgctg
     1321 ttcagccaca acgccgtggt ggccctgcgt gacggcaagc tctgcctcat gtggcgtgtg
     1381 ggtaacctgc gcaagagcca cattgtggag gcccatgtgc gcgcgcagct catcaagccg
     1441 cgggtcaccg aggagggcga gtacatcccg ctggaccaga tcgacatcga tgtgggcttc
     1501 gacaagggcc tggaccgcat ctttctggtg tcgcccatca ccatcttgca tgagattgac
     1561 gaggccagcc cgctcttcgg catcagccgg caggacctgg agacggacga ctttgagatc
     1621 gtggtcatcc tggaaggcat ggtggaggcc acagccatga ccacccaggc ccgcagctcc
     1681 tacctggcca atgagatcct gtggggtcac cgctttgagc ccgtgctctt cgaggagaag
     1741 aaccagtaca agattgacta ctcgcacttc cacaagacct atgaggtgcc ctctacgccc
     1801 cgctgcagtg cgaaggatct ggtagagaac aagttcctgc tgcccagcgc caactccttc
     1861 tgctacgaga acgagctggc cttcctgagc cgtgacgagg aggatgaggc ggacggagac
     1921 caggacggcc gaagccggga cggcctcagc ccccaggcca ggcatgactt tgacagactc
     1981 caggctggcg gcggggtcct ggagcagcgg ccctacagac gggagtcaga gatctgagcc
     2041 aaccttggcc gacatgcagc atccaccccc ggctggggag aggccccgcg gtcgctcagg
     2101 ggccccgggt ttgagcagaa cgggcccagt gccctgggtt gcagactcag tagcgtttta
     2161 gtcgttttat gtttctttgc aacggcctca gaagtttggc cggagagggg gcagccagag
     2221 cggcagcccc cggcctcaga ggctatcaca ggctcagggc aaagaagtgg cctcctgggg
     2281 ggccaggcca cgagggccag ggcttctgcc tgaagatgga gctgcagcct gcggggaagc
     2341 agctcagctc gatggtgggc ccagcctctg ctgtccaagg ctggctagct gcggtgctcc
     2401 ttgctggttt ttaacttggg gagaaacacc gggtttcagc tttcttgacc ttagcttggg
     2461 tgagactgtt tacaaaaaaa aaaaattacc atgcaattga aaaaattttt ttttaattca
     2521 cagggggcaa aaagaacaat tagaattcca tgggtctgcc aggatgcagc agctggctga
     2581 aggctccaga gggttccccg aggtgggact ggcctctccc cgtgtgtgtg ggcaccacag
     2641 tccctgggca agcagggtgc tctgggaccg cacttcatcg agctcacgag ccagctaggc
     2701 tctgtttgtg atagaaaaat caagaccatg ttaatgatcg taataaaagc tttctactgt
     2761 cgttggggtg gtgggtgggg ctgggaagaa actggtttga gcttttagag tttgcctttg
     2821 taccttagag atgtgtctca gggccaggca tgggacctgc catcgagggt tcctccccgc
     2881 accctcgatt ttcctgtttt gcttctctct ccatttctgt ccaggcctcc gcccaattcc
     2941 acagtgaggg gtggttagga gctataggcc gggatggctc cttgggaagg gaagtcggga
     3001 tcccaggcta ggaggaagct ggcagccccg tccccactgg gcccacagtg tgagtcgtgc
     3061 cttagagact ccgggttgtc ctgttctttc tgggcttgct catctccccc caaccctgtc
     3121 ccaccccacc cctcccatac ctccactgct gaagttcctc cagcccctct gtctgccttg
     3181 tgaaggtggc aggggccagg tctgcctgac ataggaccac atcctgtccc tccctcacct
     3241 ggagcagcac agcagagttc aggcagggca cagccaggcc ctggtcagcg ctgaatggca
     3301 gaggaaagat cttaggaaag gagaggaatc gccaccccct cctgccaact gggatgactg
     3361 gggagggcca cgctcattca aagctgaatc agaaaccagc cgtggaacag aattcctgcc
     3421 gagtcttcca gggccgctcc tccaccaccc tcccccaggt tgaggcacta tggcaccctc
     3481 atcaggaaga ggtttggggt ccccttgttg tcactgctgg ctctgccacc ccatcttgtt
     3541 catggcagct ggttgggtca ggtccatggt agagccaggc ccttcccagg gctgcggaga
     3601 aaacctgctc tcttctagtc gggcttctcc agaagccagt aatcagaaag gatgtgtctc
     3661 ctgctccaac tctgcccccg agacagctca gagccagaag gcaccccgag acagctcaga
     3721 gccagaaggc accccgagac agctcagagc cagaaggcac cgaggactct ggcccaagtg
     3781 gggaagctga ggcagagagc agagggggtc atgcagtgag tgggtggggt gcaggagaca
     3841 gagaggggct gggggcgtgg ggtgggggtg tctgcctctt ccctccacct cctcccctcc
     3901 ttagcagctg aagactcagc cctgaggtct ggggcaatgg aagtcaagac acccgacccc
     3961 tacatcctgg ggtaggcccg actcagcatc ctgtcccagc ttcagcccca cactcatttc
     4021 tggcatagaa gattccgccg aggcagctct ttcctctcgg ggtctgccag gggtgcctca
     4081 gctggttcct gctcccaggc ctagccccga agccttaggg gccttctcag ccttagccct
     4141 gggtactggg gtgaagttgg caggggagag cttgacactt cgcctccctg atggccatgc
     4201 tgagggacag tggtgaccct ggtcacttgg tgctggtgta ggggcctgtg cccttccagg
     4261 gccagtgaga cagccttcta ctcccccgac ccagagctga gtccgaggac cccaggccca
     4321 cctcctggcc ctcttggagg tctgtgctct tacctcccag cccccaccct gcgggagagc
     4381 agccccagcg cctcatctcc ccaaaggcgg cagatgcttg attctcctgc cctctttctt
     4441 ccttccctcg tatttattta tttatttatt gcttgtgcta aagaccaaaa tagtctccct
     4501 ctttagtgca cttgaagcgg gagggcggat gggatgagcc aggagcgagg aagacttggc
     4561 ccctggggag tgtgtgtgtg gaggcgtgtg cctgtgtgag cctgcatgca tacatgtgtg
     4621 gtgcacacat gcacactcgg ctcttcatgt gtatgactgg gttagtaata cagatacgtg
     4681 atctatacgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtatgcaggc ggttatgtgt
     4741 ctgtctaccc ccaggtgttt ccgtgtacaa gtttcctgtg agggagggca cccacccatc
     4801 aggttgggca ctggcacagg tgaaccccac agtccccgac cctctgccct gattatgcac
     4861 gtctgctcct gagtggagct tgtgttccag gatgagacat ctggaggtga gcgtgtgcgt
     4921 ccggctcgtg tgtaggaggc tgtgtgtgtg cccatgtgaa accgtgtact tgagtgtgtg
     4981 tctgtgtgca gcctatgcct gctgctcaga gcacggtggc caccccctga gcctctgctg
     5041 gtgctgtgct gcgtggtccc cacccagagg gtcctggggg gcggggagga gccaccgttg
     5101 ggaggcccct gtacggggtg tctgccctgc gtgagggcat agaatgtcaa attattttaa
     5161 atggtgaaac tggagagttt tcatgttatt ttcaatacat agcagtatct aaagacgtag
     5221 gcgatgagac tagaccacat taaatgcatt ttgatctctt tga
//
