LOCUS       NM_001372233            3822 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens potassium calcium-activated channel subfamily N member
            2 (KCNN2), transcript variant 5, mRNA.
ACCESSION   NM_001372233
VERSION     NM_001372233.1
KEYWORDS    RefSeq.
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 3822)
  AUTHORS   d'Apolito,M., Ceccarini,C., Savino,R., Adipietro,I., di Bari,I.,
            Santacroce,R., Curcetti,M., D'Andrea,G., Croce,A.I., Cesarano,C.,
            Polito,A.N. and Margaglione,M.
  TITLE     A Novel KCNN2 Variant in a Family with Essential Tremor Plus:
            Clinical Characteristics and In Silico Analysis
  JOURNAL   Genes (Basel) 14 (7), 1380 (2023)
   PUBMED   37510285
  REMARK    GeneRIF: A Novel KCNN2 Variant in a Family with Essential Tremor
            Plus: Clinical Characteristics and In Silico Analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3822)
  AUTHORS   Nam,Y.W., Rahman,M.A., Yang,G., Orfali,R., Cui,M. and Zhang,M.
  TITLE     Loss-of-function KCa2.2 mutations abolish channel activity
  JOURNAL   Am J Physiol Cell Physiol 324 (3), C658-C664 (2023)
   PUBMED   36717104
  REMARK    GeneRIF: Loss-of-function KCa2.2 mutations abolish channel
            activity.
REFERENCE   3  (bases 1 to 3822)
  AUTHORS   Butler,A.S., Hancox,J.C. and Marrion,N.V.
  TITLE     Preferential formation of human heteromeric SK2:SK3 channels limits
            homomeric SK channel assembly and function
  JOURNAL   J Biol Chem 299 (1), 102783 (2023)
   PUBMED   36502918
  REMARK    GeneRIF: Preferential formation of human heteromeric SK2:SK3
            channels limits homomeric SK channel assembly and function.
REFERENCE   4  (bases 1 to 3822)
  AUTHORS   Rahm,A.K., Wieder,T., Gramlich,D., Muller,M.E., Wunsch,M.N., El
            Tahry,F.A., Heimberger,T., Weis,T., Most,P., Katus,H.A., Thomas,D.
            and Lugenbiel,P.
  TITLE     HDAC2-dependent remodeling of KCa2.2 (KCNN2) and KCa2.3 (KCNN3) K+
            channels in atrial fibrillation with concomitant heart failure
  JOURNAL   Life Sci 266, 118892 (2021)
   PUBMED   33310041
  REMARK    GeneRIF: HDAC2-dependent remodeling of KCa2.2 (KCNN2) and KCa2.3
            (KCNN3) K(+) channels in atrial fibrillation with concomitant heart
            failure.
REFERENCE   5  (bases 1 to 3822)
  AUTHORS   Xu,Y., Tuteja,D., Zhang,Z., Xu,D., Zhang,Y., Rodriguez,J., Nie,L.,
            Tuxson,H.R., Young,J.N., Glatter,K.A., Vazquez,A.E., Yamoah,E.N.
            and Chiamvimonvat,N.
  TITLE     Molecular identification and functional roles of a Ca(2+)-activated
            K+ channel in human and mouse hearts
  JOURNAL   J Biol Chem 278 (49), 49085-49094 (2003)
   PUBMED   13679367
  REMARK    GeneRIF: Because of the marked differential expression of SK2
            channels in the heart, specific ligands for Ca2+-activated K+
            currents may offer a unique therapeutic opportunity to modify
            atrial cells without interfering with ventricular myocytes
REFERENCE   6  (bases 1 to 3822)
  AUTHORS   Rimini,R., Rimland,J.M. and Terstappen,G.C.
  TITLE     Quantitative expression analysis of the small conductance
            calcium-activated potassium channels, SK1, SK2 and SK3, in human
            brain
  JOURNAL   Brain Res Mol Brain Res 85 (1-2), 218-220 (2000)
   PUBMED   11146124
REFERENCE   7  (bases 1 to 3822)
  AUTHORS   Desai,R., Peretz,A., Idelson,H., Lazarovici,P. and Attali,B.
  TITLE     Ca2+-activated K+ channels in human leukemic Jurkat T cells.
            Molecular cloning, biochemical and functional characterization
  JOURNAL   J Biol Chem 275 (51), 39954-39963 (2000)
   PUBMED   10991935
REFERENCE   8  (bases 1 to 3822)
  AUTHORS   Jager,H., Adelman,J.P. and Grissmer,S.
  TITLE     SK2 encodes the apamin-sensitive Ca(2+)-activated K(+) channels in
            the human leukemic T cell line, Jurkat
  JOURNAL   FEBS Lett 469 (2-3), 196-202 (2000)
   PUBMED   10713270
REFERENCE   9  (bases 1 to 3822)
  AUTHORS   Kurima,K., Singh,B. and Schwartz,N.B.
  TITLE     Genomic organization of the mouse and human genes encoding the ATP
            sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2
  JOURNAL   J Biol Chem 274 (47), 33306-33312 (1999)
   PUBMED   10559207
REFERENCE   10 (bases 1 to 3822)
  AUTHORS   Ishii,T.M., Maylie,J. and Adelman,J.P.
  TITLE     Determinants of apamin and d-tubocurarine block in SK potassium
            channels
  JOURNAL   J Biol Chem 272 (37), 23195-23200 (1997)
   PUBMED   9287325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106789.2, AC094088.3,
            AC113364.2, AC025761.5, AC109482.3 and KF459898.1.
            
            Summary: Action potentials in vertebrate neurons are followed by an
            afterhyperpolarization (AHP) that may persist for several seconds
            and may have profound consequences for the firing pattern of the
            neuron. Each component of the AHP is kinetically distinct and is
            mediated by different calcium-activated potassium channels. The
            protein encoded by this gene is activated before membrane
            hyperpolarization and is thought to regulate neuronal excitability
            by contributing to the slow component of synaptic AHP. This gene is
            a member of the KCNN family of potassium channel genes. The encoded
            protein is an integral membrane protein that forms a
            voltage-independent calcium-activated channel with three other
            calmodulin-binding subunits. Alternate splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, May
            2013].
            
            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 :: SRR18074967.3773652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156099 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-523               AC106789.2         57043-57565         c
            524-595             AC106789.2         56372-56443         c
            596-664             AC094088.3         40640-40708         c
            665-750             AC113364.2         105730-105815
            751-956             AC025761.5         47567-47772
            957-2254            AC025761.5         48586-49883
            2255-2350           AC025761.5         50528-50623
            2351-2769           AC025761.5         91060-91478
            2770-2911           AC109482.3         51783-51924
            2912-3022           AC109482.3         61788-61898
            3023-3150           AC109482.3         75784-75911
            3151-3220           KF459898.1         148-217
            3221-3822           AC109482.3         84629-85230
FEATURES             Location/Qualifiers
     source          1..3822
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3"
     gene            1..3822
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="potassium calcium-activated channel subfamily N
                     member 2"
                     /db_xref="GeneID:3781"
                     /db_xref="HGNC:HGNC:6291"
                     /db_xref="MIM:605879"
     exon            1..523
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            524..595
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            596..664
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            665..750
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            751..956
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             935..3508
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="isoform c is encoded by transcript variant 5;
                     apamin-sensitive small-conductance Ca2+-activated
                     potassium channel; small conductance calcium-activated
                     potassium channel protein 2; potassium channel, calcium
                     activated intermediate/small conductance subfamily N
                     alpha, member 2; potassium intermediate/small conductance
                     calcium-activated channel, subfamily N, member 2; small
                     conductance calcium-activated potassium channel 2"
                     /codon_start=1
                     /product="small conductance calcium-activated potassium
                     channel protein 2 isoform c"
                     /protein_id="NP_001359162.1"
                     /db_xref="CCDS:CCDS93760.1"
                     /db_xref="GeneID:3781"
                     /db_xref="HGNC:HGNC:6291"
                     /db_xref="MIM:605879"
                     /translation="MFWRRRKCDVMPIVLVRPTNRTRRLDSTGAGMGPSSHQQQESPL
                     PTITHCAGCTTAWSPCSFNSPDMETPLQFQRGFFPEQPPPPPRSSHLHCQQQQQSQDK
                     PCPPFAPLPHPHHHPHLAHQQPASGGSSPCLRCNSCASSGAPAAGAGDNLSLLLRTSS
                     PGGAFRTRTSSPLSGSSCCCCCCSSRRGSQLNVSELTPSSHASALRQQYAQQSAQQSA
                     SASQYHQCHSLQPAASPTGSLGSLGSGPPLSHHHHHPHPAHHQHHQPQARRESNPFTE
                     IAMSSCRYNGGVMRPLSNLSASRRNLHEMDSEAQPLQPPASVGGGGGASSPSAAAAAA
                     AAVSSSAPEIVVSKPEHNNSNNLALYGTGGGGSTGGGGGGGGSGHGSSSGTKSSKKKN
                     QNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGAYDKASLYSLALKC
                     LISLSTIILLGLIIVYHAREIQLFMVDNGADDWRIAMTYERIFFICLEILVCAIHPIP
                     GNYTFTWTARLAFSYAPSTTTADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSI
                     GALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRACERYHDQQDVTSNFL
                     GAMWLISITFLSIGYGDMVPNTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEK
                     HVHNFMMDTQLTKRVKNAAANVLRETWLIYKNTKLVKKIDHAKVRKHQRKFLQAIHQL
                     RSVKMEQRKLNDQANTLVDLAKTQNIMYDMISDLNERSEDFEKRIVTLETKLETLIGS
                     IHALPGLISQTIRQQQRDFIEAQMESYDKHVTYNAERSRSSSRRRRSSSTAPPTSSES
                     S"
     exon            957..2254
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2255..2350
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2351..2769
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2770..2911
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2912..3022
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3023..3150
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3151..3220
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3221..3822
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3800..3805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="hexamer: AATAAA"
     polyA_site      3822
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="major polyA site"
ORIGIN      
        1 agcctcaagg tcggcgatac cctgagcatt cgggcccccg cctgcaggac tcgctcctgc
       61 cagccaagga ctcaagaagg agggagtccc cagtcccggc ggggcgcctg ggattcggtt
      121 caatatttag cacagtcagt accgaagcag gggcagccag gtgggagctg ggcgcccaaa
      181 agttggaccc caatcagcag cgagtgggca gcgggggcct ggctcgcccg cgcccgcgcc
      241 ccggagctct ccggctggct ctctgctccc cgaagctggg gagccggggg cgctctcccg
      301 ggccgcaagc aggcacggaa tttgacgccc gagaggcaga tggtcctggc taggactcct
      361 gattcttctc agatggaaac agtttctccc ggtgaacctg ccggaattct cagtggactc
      421 gatcttcagc tttgtccact ggcgcatttc accaaggccg catttaccgc tttgaggcaa
      481 atttgagctt caaatggagc gggactcctg gttgcagaac gagggtgtgg gaatgcgcat
      541 ctgcaagacc agaggatgca gagcttgcag gaaggaggaa actcactagg ttcaggttca
      601 tgaaattttc aggaattaaa gttagtcctg aggaaagttc atgaatgtct aatgctggac
      661 tgtgattctt gctgagagaa ctacaaaagg atggactcca gcaagaggaa aaatgaatct
      721 aaggaatgga gtgggatata agcaataaca gtgaggagga ggaagagaag cagaagagca
      781 gctggaggcc ggcggtggct gagcagcccc cacacctttg agcgagccgc ctgcctctcc
      841 accggcaagg aagccctggg acctccggat tcgggctgcc ggagggcctg agcgccagag
      901 cccaggaccc ggcggccggg ggcgccatcc cctcatgttc tggagaaggc gcaaatgtga
      961 tgtcatgccc attgttttgg tgcgcccaac caatcggact cgccgcctgg attctaccgg
     1021 agccggcatg ggcccttcct cgcaccagca gcaggagtcc ccgctcccga ccataacgca
     1081 ttgcgcaggg tgcaccaccg cttggtctcc ctgcagcttt aacagccctg acatggaaac
     1141 cccattgcag ttccagcgcg gcttcttccc agagcagccg ccgccgccgc cgcgctcctc
     1201 acacctgcat tgccagcagc agcaacagag ccaggacaag ccgtgcccgc ccttcgcgcc
     1261 cctcccgcac cctcaccacc acccgcacct cgcgcaccag cagccggcca gcggcggcag
     1321 cagcccatgc ctccggtgca acagctgcgc ctcctccggt gccccggcgg cgggggcggg
     1381 agataacctg tccctgctgc tccgcacctc ctcgcccggc ggcgccttcc ggacccgcac
     1441 ctcctcgccg ctgtcgggct cgtcctgctg ctgctgctgc tgctcgtcgc gccggggcag
     1501 ccagctcaat gtgagcgagc tgacgccgtc cagccatgcc agtgcgctcc ggcagcagta
     1561 cgcgcagcag tccgcgcagc agtcggcgtc cgcctcccag taccaccagt gccacagcct
     1621 gcagcccgcc gccagcccca cgggcagcct cggcagtctg ggctccgggc ccccgctctc
     1681 gcaccaccac caccacccgc acccggcgca ccaccagcac caccagcccc aggcgcgccg
     1741 cgagagcaac cccttcaccg aaatagccat gagcagctgc aggtacaacg ggggcgtcat
     1801 gcggccgctc agcaacttga gcgcgtcccg ccggaacctg cacgagatgg actcagaggc
     1861 gcagcccctg cagccccccg cgtctgtcgg aggaggtggc ggcgcgtcct ccccgtctgc
     1921 agccgctgcc gccgccgccg ctgtttcgtc ctcagccccc gagatcgtgg tgtctaagcc
     1981 cgagcacaac aactccaaca acctggcgct ctatggaacc ggcggcggag gcagcactgg
     2041 aggaggcggc ggcggtggcg ggagcgggca cggcagcagc agtggcacca agtccagcaa
     2101 aaagaaaaac cagaacatcg gctacaagct gggccaccgg cgcgccctgt tcgaaaagcg
     2161 caagcggctc agcgactacg cgctcatctt cggcatgttc ggcatcgtgg tcatggtcat
     2221 cgagaccgag ctgtcgtggg gcgcctacga caaggcgtcg ctgtattcct tagctctgaa
     2281 atgccttatc agtctctcca cgatcatcct gctcggtctg atcatcgtgt accacgccag
     2341 ggaaatacag ttgttcatgg tggacaatgg agcagatgac tggagaatag ccatgactta
     2401 tgagcgtatt ttcttcatct gcttggaaat actggtgtgt gctattcatc ccatacctgg
     2461 gaattataca ttcacatgga cggcccggct tgccttctcc tatgccccat ccacaaccac
     2521 cgctgatgtg gatattattt tatctatacc aatgttctta agactctatc tgattgccag
     2581 agtcatgctt ttacatagca aacttttcac tgatgcctcc tctagaagca ttggagcact
     2641 taataagata aacttcaata cacgttttgt tatgaagact ttaatgacta tatgcccagg
     2701 aactgtactc ttggttttta gtatctcatt atggataatt gccgcatgga ctgtccgagc
     2761 ttgtgaaagg taccatgatc aacaggatgt tactagcaac ttccttggag cgatgtggtt
     2821 gatatcaata acttttctct ccattggtta tggtgacatg gtacctaaca catactgtgg
     2881 aaaaggagtc tgcttactta ctggaattat gggtgctggt tgcacagccc tggtggtagc
     2941 tgtagtggca aggaagctag aacttaccaa agcagaaaaa cacgtgcaca atttcatgat
     3001 ggatactcag ctgactaaaa gagtaaaaaa tgcagctgcc aatgtactca gggaaacatg
     3061 gctaatttac aaaaatacaa agctagtgaa aaagatagat catgcaaaag taagaaaaca
     3121 tcaacgaaaa ttcctgcaag ctattcatca attaagaagt gtaaaaatgg agcagaggaa
     3181 actgaatgac caagcaaaca ctttggtgga cttggcaaag acccagaaca tcatgtatga
     3241 tatgatttct gacttaaacg aaaggagtga agacttcgag aagaggattg ttaccctgga
     3301 aacaaaacta gagactttga ttggtagcat ccacgccctc cctgggctca taagccagac
     3361 catcaggcag cagcagagag atttcattga ggctcagatg gagagctacg acaagcacgt
     3421 cacttacaat gctgagcggt cccggtcctc gtccaggagg cggcggtcct cttccacagc
     3481 accaccaact tcatcagaga gtagctagaa gagaataagt taaccacaaa ataagacttt
     3541 ttgccatcat atggtcaata ttttagcttt tattgtaaag cccctatggt tctaatcagc
     3601 gttatccggg ttctgatgtc agaatcctgg gaacctgaac actaagtttt aggccaaaat
     3661 gagtgaaaac tctttttttt tctttcagat gcacagggaa tgcacctatt attgctatat
     3721 agattgttcc tcctgtaatt tcactaactt tttattcatg cacttcaaac aaactttact
     3781 actacattat atgatatata ataaaaaaag ttaatttctg ca
//
