LOCUS       NM_172201               1061 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 2 (KCNE2), mRNA.
ACCESSION   NM_172201
VERSION     NM_172201.2
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 1061)
  AUTHORS   Song,M., Zhuge,Y., Tu,Y., Liu,J. and Liu,W.
  TITLE     The Multifunctional Role of KCNE2: From Cardiac Arrhythmia to
            Multisystem Disorders
  JOURNAL   Cells 13 (17), 1409 (2024)
   PUBMED   39272981
  REMARK    GeneRIF: The Multifunctional Role of KCNE2: From Cardiac Arrhythmia
            to Multisystem Disorders.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1061)
  AUTHORS   Papanikolaou,M., Crump,S.M. and Abbott,G.W.
  TITLE     The focal adhesion protein Testin modulates KCNE2 potassium channel
            beta subunit activity
  JOURNAL   Channels (Austin) 15 (1), 229-238 (2021)
   PUBMED   33464998
  REMARK    GeneRIF: The focal adhesion protein Testin modulates KCNE2
            potassium channel beta subunit activity.
REFERENCE   3  (bases 1 to 1061)
  AUTHORS   Hu,B., Zeng,W.P., Li,X., Al-Sheikh,U., Chen,S.Y. and Ding,J.
  TITLE     A conserved arginine/lysine-based motif promotes ER export of KCNE1
            and KCNE2 to regulate KCNQ1 channel activity
  JOURNAL   Channels (Austin) 13 (1), 483-497 (2019)
   PUBMED   31679457
  REMARK    GeneRIF: An arginine/lysine-based motif ([R/K](S)[R/K][R/K]) in the
            proximal C-terminus regulating the endoplasmic reticulum (ER)
            export of KCNE1 and KCNE2.
REFERENCE   4  (bases 1 to 1061)
  AUTHORS   Liu,X., Li,Y., Zhang,H., Ji,Y., Zhao,Z. and Wang,C.
  TITLE     The research of ion channel-related gene polymorphisms with atrial
            fibrillation in the Chinese Han population
  JOURNAL   Mol Genet Genomic Med 7 (8), e835 (2019)
   PUBMED   31270966
  REMARK    GeneRIF: KCNE2 rs8134775 was associated with a decreased atrial
            fibrillation (AF) risk in the Chinese Han population in the allele
            model. Minor allele T of GJA5 rs35594137 was associated with a
            decreased AF risk, and the minor allele G of KCNJ2 rs8079702 was
            associated with an increased AF risk in the recessive models.
            Results suggest that KCNE2, KCNJ2, and GJA5 influence the
            development of AF in the Chinese Han population.
REFERENCE   5  (bases 1 to 1061)
  AUTHORS   Cui,J., Kagan,A., Qin,D., Mathew,J., Melman,Y.F. and McDonald,T.V.
  TITLE     Analysis of the cyclic nucleotide binding domain of the HERG
            potassium channel and interactions with KCNE2
  JOURNAL   J Biol Chem 276 (20), 17244-17251 (2001)
   PUBMED   11278781
REFERENCE   6  (bases 1 to 1061)
  AUTHORS   Tinel,N., Diochot,S., Borsotto,M., Lazdunski,M. and Barhanin,J.
  TITLE     KCNE2 confers background current characteristics to the cardiac
            KCNQ1 potassium channel
  JOURNAL   EMBO J 19 (23), 6326-6330 (2000)
   PUBMED   11101505
REFERENCE   7  (bases 1 to 1061)
  AUTHORS   Tinel,N., Diochot,S., Lauritzen,I., Barhanin,J., Lazdunski,M. and
            Borsotto,M.
  TITLE     M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2
            subunit
  JOURNAL   FEBS Lett 480 (2-3), 137-141 (2000)
   PUBMED   11034315
REFERENCE   8  (bases 1 to 1061)
  AUTHORS   Abbott,G.W., Sesti,F., Splawski,I., Buck,M.E., Lehmann,M.H.,
            Timothy,K.W., Keating,M.T. and Goldstein,S.A.
  TITLE     MiRP1 forms IKr potassium channels with HERG and is associated with
            cardiac arrhythmia
  JOURNAL   Cell 97 (2), 175-187 (1999)
   PUBMED   10219239
REFERENCE   9  (bases 1 to 1061)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (bases 1 to 1061)
  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 AP000320.1.
            
            On Mar 31, 2020 this sequence version replaced NM_172201.1.
            
            Summary: Voltage-gated potassium (Kv) channels represent the most
            complex class of voltage-gated ion channels from both functional
            and structural standpoints. Their diverse functions include
            regulating neurotransmitter release, heart rate, insulin secretion,
            neuronal excitability, epithelial electrolyte transport, smooth
            muscle contraction, and cell volume. This gene encodes a member of
            the potassium channel, voltage-gated, isk-related subfamily. This
            member is a small integral membrane subunit that assembles with the
            KCNH2 gene product, a pore-forming protein, to alter its function.
            This gene is expressed in heart and muscle and the gene mutations
            are associated with cardiac arrhythmia. [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 :: AF302095.1, BC112087.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290310.4/ ENSP00000290310.2
            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
            1-146               AP000320.1         9223-9368
            147-1061            AP000320.1         15684-16598
FEATURES             Location/Qualifiers
     source          1..1061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..1061
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 2"
                     /db_xref="GeneID:9992"
                     /db_xref="HGNC:HGNC:6242"
                     /db_xref="MIM:603796"
     exon            1..146
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            147..1061
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..530
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="potassium channel subunit, MiRP1; minK-related
                     peptide-1; minimum potassium ion channel-related peptide
                     1; voltage-gated K+ channel subunit MIRP1; cardiac
                     voltage-gated potassium channel accessory subunit 2;
                     potassium channel subunit beta MiRP1; potassium
                     voltage-gated channel, Isk-related family, member 2;
                     potassium channel, voltage gated subfamily E regulatory
                     beta subunit 2"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily E
                     member 2"
                     /protein_id="NP_751951.1"
                     /db_xref="CCDS:CCDS13635.1"
                     /db_xref="GeneID:9992"
                     /db_xref="HGNC:HGNC:6242"
                     /db_xref="MIM:603796"
                     /translation="MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAE
                     NFYYVILYLMVMIGMFSFIIVAILVSTVKSKRREHSNDPYHQYIVEDWQEKYKSQILN
                     LEESKATIHENIGAAGFKMSP"
     regulatory      678..683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="hexamer: AATAAA"
     polyA_site      700
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="major polyA site"
     regulatory      803..808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="hexamer: AATAAA"
     polyA_site      825
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="major polyA site"
     regulatory      1044..1049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
                     /note="hexamer: AATAAA"
     polyA_site      1061
                     /gene="KCNE2"
                     /gene_synonym="ATFB4; LQT5; LQT6; MIRP1"
ORIGIN      
        1 gcaagggctt agatggttgt aaggtgaagg tgcccagcag gctgaggctt gtgtgcaacc
       61 cagaagagag ctcgctaacg ccagcaagaa ggttcagaac agcctggctt tggaaaggaa
      121 tttcatcctg cccacacact gcatagcagg agggaagcat gtctacttta tccaatttca
      181 cacagacgct ggaagacgtc ttccgaagga tttttattac ttatatggac aattggcgcc
      241 agaacacaac agctgagcaa gaggccctcc aagccaaagt tgatgctgag aacttctact
      301 atgtcatcct gtacctcatg gtgatgattg gaatgttctc tttcatcatc gtggccatcc
      361 tggtgagcac tgtgaaatcc aagagacggg aacactccaa tgacccctac caccagtaca
      421 ttgtagagga ctggcaggaa aagtacaaga gccaaatctt gaatctagaa gaatcgaagg
      481 ccaccatcca tgagaacatt ggtgcggctg ggttcaaaat gtccccctga taagggagaa
      541 aggcaccaag ctaacatctg acgtccagac atgaagagat gccagtgcca cgaggcaaat
      601 ccaaattgtc tttgcttaga agaaagtgag ttccttgctc tctgttgaga attttcatgg
      661 agattatgtg gttggccaat aaagatagat gacatttcaa tctcagtgat ttatgcttgc
      721 ttgttggagc aatattttgt gctgaagacc tcttttactt tccgggcaag tgaatgtcat
      781 tttaatcaat atcaatgatg aaaataaagc caaatttgaa gtaaagtgtc tgggcagtgg
      841 ctgtggggat agaaaggaga gatttacaaa tcattgaatc ttctttctca tgaaacatca
      901 tttgtgtgtg acaaattcaa tttataaata acccagatgt attatgtaga agctgaggct
      961 caaaagctat cacttgctta ccagacggac ataggagcat ttatctgtaa tattaattca
     1021 tgagtgtgga gtctgaagag atgaataaac aaaccataag a
//
