LOCUS       NM_021614               2760 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens potassium calcium-activated channel subfamily N member
            2 (KCNN2), transcript variant 1, mRNA.
ACCESSION   NM_021614
VERSION     NM_021614.4
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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 2760)
  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 DC374170.1, AK289948.1,
            BC117454.1 and BC015371.2.
            
            On Jul 1, 2019 this sequence version replaced NM_021614.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            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 :: AF239613.1, AK289948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000673685.1/ ENSP00000501239.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-318               DC374170.1         22-339
            319-538             AK289948.1         2-221
            539-2619            BC117454.1         1-2081
            2620-2760           BC015371.2         1313-1453
FEATURES             Location/Qualifiers
     source          1..2760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3"
     gene            1..2760
                     /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..1192
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..2446
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_067627.3"
                     /db_xref="CCDS:CCDS4114.2"
                     /db_xref="GeneID:3781"
                     /db_xref="HGNC:HGNC:6291"
                     /db_xref="MIM:605879"
                     /translation="METPLQFQRGFFPEQPPPPPRSSHLHCQQQQQSQDKPCPPFAPL
                     PHPHHHPHLAHQQPASGGSSPCLRCNSCASSGAPAAGAGDNLSLLLRTSSPGGAFRTR
                     TSSPLSGSSCCCCCCSSRRGSQLNVSELTPSSHASALRQQYAQQSAQQSASASQYHQC
                     HSLQPAASPTGSLGSLGSGPPLSHHHHHPHPAHHQHHQPQARRESNPFTEIAMSSCRY
                     NGGVMRPLSNLSASRRNLHEMDSEAQPLQPPASVGGGGGASSPSAAAAAAAAVSSSAP
                     EIVVSKPEHNNSNNLALYGTGGGGSTGGGGGGGGSGHGSSSGTKSSKKKNQNIGYKLG
                     HRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGAYDKASLYSLALKCLISLSTII
                     LLGLIIVYHAREIQLFMVDNGADDWRIAMTYERIFFICLEILVCAIHPIPGNYTFTWT
                     ARLAFSYAPSTTTADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINF
                     NTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRACERYHDQQDVTSNFLGAMWLISI
                     TFLSIGYGDMVPNTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMD
                     TQLTKRVKNAAANVLRETWLIYKNTKLVKKIDHAKVRKHQRKFLQAIHQLRSVKMEQR
                     KLNDQANTLVDLAKTQNIMYDMISDLNERSEDFEKRIVTLETKLETLIGSIHALPGLI
                     SQTIRQQQRDFIEAQMESYDKHVTYNAERSRSSSRRRRSSSTAPPTSSESS"
     exon            1193..1288
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1707
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..1849
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1960
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2088
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2158
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2159..2760
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2738..2743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="hexamer: AATAAA"
     polyA_site      2760
                     /gene="KCNN2"
                     /gene_synonym="DYT34; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2;
                     SKCA2"
                     /note="major polyA site"
ORIGIN      
        1 gctcccgacc ataacgcatt gcgcagggtg caccaccgct tggtctccct gcagctttaa
       61 cagccctgac atggaaaccc cattgcagtt ccagcgcggc ttcttcccag agcagccgcc
      121 gccgccgccg cgctcctcac acctgcattg ccagcagcag caacagagcc aggacaagcc
      181 gtgcccgccc ttcgcgcccc tcccgcaccc tcaccaccac ccgcacctcg cgcaccagca
      241 gccggccagc ggcggcagca gcccatgcct ccggtgcaac agctgcgcct cctccggtgc
      301 cccggcggcg ggggcgggag ataacctgtc cctgctgctc cgcacctcct cgcccggcgg
      361 cgccttccgg acccgcacct cctcgccgct gtcgggctcg tcctgctgct gctgctgctg
      421 ctcgtcgcgc cggggcagcc agctcaatgt gagcgagctg acgccgtcca gccatgccag
      481 tgcgctccgg cagcagtacg cgcagcagtc cgcgcagcag tcggcgtccg cctcccagta
      541 ccaccagtgc cacagcctgc agcccgccgc cagccccacg ggcagcctcg gcagtctggg
      601 ctccgggccc ccgctctcgc accaccacca ccacccgcac ccggcgcacc accagcacca
      661 ccagccccag gcgcgccgcg agagcaaccc cttcaccgaa atagccatga gcagctgcag
      721 gtacaacggg ggcgtcatgc ggccgctcag caacttgagc gcgtcccgcc ggaacctgca
      781 cgagatggac tcagaggcgc agcccctgca gccccccgcg tctgtcggag gaggtggcgg
      841 cgcgtcctcc ccgtctgcag ccgctgccgc cgccgccgct gtttcgtcct cagcccccga
      901 gatcgtggtg tctaagcccg agcacaacaa ctccaacaac ctggcgctct atggaaccgg
      961 cggcggaggc agcactggag gaggcggcgg cggtggcggg agcgggcacg gcagcagcag
     1021 tggcaccaag tccagcaaaa agaaaaacca gaacatcggc tacaagctgg gccaccggcg
     1081 cgccctgttc gaaaagcgca agcggctcag cgactacgcg ctcatcttcg gcatgttcgg
     1141 catcgtggtc atggtcatcg agaccgagct gtcgtggggc gcctacgaca aggcgtcgct
     1201 gtattcctta gctctgaaat gccttatcag tctctccacg atcatcctgc tcggtctgat
     1261 catcgtgtac cacgccaggg aaatacagtt gttcatggtg gacaatggag cagatgactg
     1321 gagaatagcc atgacttatg agcgtatttt cttcatctgc ttggaaatac tggtgtgtgc
     1381 tattcatccc atacctggga attatacatt cacatggacg gcccggcttg ccttctccta
     1441 tgccccatcc acaaccaccg ctgatgtgga tattatttta tctataccaa tgttcttaag
     1501 actctatctg attgccagag tcatgctttt acatagcaaa cttttcactg atgcctcctc
     1561 tagaagcatt ggagcactta ataagataaa cttcaataca cgttttgtta tgaagacttt
     1621 aatgactata tgcccaggaa ctgtactctt ggtttttagt atctcattat ggataattgc
     1681 cgcatggact gtccgagctt gtgaaaggta ccatgatcaa caggatgtta ctagcaactt
     1741 ccttggagcg atgtggttga tatcaataac ttttctctcc attggttatg gtgacatggt
     1801 acctaacaca tactgtggaa aaggagtctg cttacttact ggaattatgg gtgctggttg
     1861 cacagccctg gtggtagctg tagtggcaag gaagctagaa cttaccaaag cagaaaaaca
     1921 cgtgcacaat ttcatgatgg atactcagct gactaaaaga gtaaaaaatg cagctgccaa
     1981 tgtactcagg gaaacatggc taatttacaa aaatacaaag ctagtgaaaa agatagatca
     2041 tgcaaaagta agaaaacatc aacgaaaatt cctgcaagct attcatcaat taagaagtgt
     2101 aaaaatggag cagaggaaac tgaatgacca agcaaacact ttggtggact tggcaaagac
     2161 ccagaacatc atgtatgata tgatttctga cttaaacgaa aggagtgaag acttcgagaa
     2221 gaggattgtt accctggaaa caaaactaga gactttgatt ggtagcatcc acgccctccc
     2281 tgggctcata agccagacca tcaggcagca gcagagagat ttcattgagg ctcagatgga
     2341 gagctacgac aagcacgtca cttacaatgc tgagcggtcc cggtcctcgt ccaggaggcg
     2401 gcggtcctct tccacagcac caccaacttc atcagagagt agctagaaga gaataagtta
     2461 accacaaaat aagacttttt gccatcatat ggtcaatatt ttagctttta ttgtaaagcc
     2521 cctatggttc taatcagcgt tatccgggtt ctgatgtcag aatcctggga acctgaacac
     2581 taagttttag gccaaaatga gtgaaaactc tttttttttc tttcagatgc acagggaatg
     2641 cacctattat tgctatatag attgttcctc ctgtaatttc actaactttt tattcatgca
     2701 cttcaaacaa actttactac tacattatat gatatataat aaaaaaagtt aatttctgca
//
