LOCUS       NM_001278919            3758 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily H member 6
            (KCNH6), transcript variant 3, mRNA.
ACCESSION   NM_001278919
VERSION     NM_001278919.2
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 3758)
  AUTHORS   Zhang,Y.C., Xiong,F.R., Cheng,C., Shen,H., Zhao,R.X., Zhu,J.J.,
            Zhang,L., Lu,J. and Yang,J.K.
  TITLE     KCNH6 Enhanced Hepatic Glucose Metabolism through Mitochondrial
            Ca2+ Regulation and Oxidative Stress Inhibition
  JOURNAL   Oxid Med Cell Longev 2022, 3739556 (2022)
   PUBMED   36217412
  REMARK    GeneRIF: KCNH6 Enhanced Hepatic Glucose Metabolism through
            Mitochondrial Ca(2+) Regulation and Oxidative Stress Inhibition.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3758)
  AUTHORS   Tas,A., Hayta,E., Karadag,A., Zontul,C., Ozmen,E., Aydin,S. and
            Silig,Y.
  TITLE     Potassium Ion Channel Protein (KCNH) Levels in Patients with
            Fibromyalgia Syndrome
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (5), 451-457 (2022)
   PUBMED   35818223
  REMARK    GeneRIF: Potassium Ion Channel Protein (KCNH) Levels in Patients
            with Fibromyalgia Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3758)
  AUTHORS   Yamoah,K., Asamoah,F.A., Abrahams,A.O.D., Awasthi,S., Mensah,J.E.,
            Dhillon,J., Mahal,B.A., Gueye,S.M., Jalloh,M., Farahani,S.J.,
            Lal,P., Rebbeck,T.R. and Yarney,J.
  TITLE     Prostate tumors of native men from West Africa show biologically
            distinct pathways-A comparative genomic study
  JOURNAL   Prostate 81 (16), 1402-1410 (2021)
   PUBMED   34529278
  REMARK    GeneRIF: Prostate tumors of native men from West Africa show
            biologically distinct pathways-A comparative genomic study.
REFERENCE   4  (bases 1 to 3758)
  AUTHORS   Zhao,M.M., Lu,J., Li,S., Wang,H., Cao,X., Li,Q., Shi,T.T.,
            Matsunaga,K., Chen,C., Huang,H., Izumi,T. and Yang,J.K.
  TITLE     Berberine is an insulin secretagogue targeting the KCNH6 potassium
            channel
  JOURNAL   Nat Commun 12 (1), 5616 (2021)
   PUBMED   34556670
  REMARK    GeneRIF: Berberine is an insulin secretagogue targeting the KCNH6
            potassium channel.
            Erratum:[Nat Commun. 2021 Oct 29;12(1):6342. doi:
            10.1038/s41467-021-26635-8.. PMID: 34716337]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3758)
  AUTHORS   Yang,J.K., Lu,J., Yuan,S.S., Asan, Cao,X., Qiu,H.Y., Shi,T.T.,
            Yang,F.Y., Li,Q., Liu,C.P., Wu,Q., Wang,Y.H., Huang,H.X.,
            Kayoumu,A., Feng,J.P., Xie,R.R., Zhu,X.R., Liu,C., Yang,G.R.,
            Zhang,M.R., Xie,C.L., Chen,C., Zhang,B., Liu,G., Zhang,X.Q. and
            Xu,A.
  TITLE     From Hyper- to Hypoinsulinemia and Diabetes: Effect of KCNH6 on
            Insulin Secretion
  JOURNAL   Cell Rep 25 (13), 3800-3810 (2018)
   PUBMED   30590050
  REMARK    GeneRIF: dysfunction of KCNH6 causes overstimulation of insulin
            secretion in the short term and beta cell failure in the long term.
REFERENCE   6  (bases 1 to 3758)
  AUTHORS   Li,X., Anishkin,A., Liu,H., van Rossum,D.B., Chintapalli,S.V.,
            Sassic,J.K., Gallegos,D., Pivaroff-Ward,K. and Jegla,T.
  TITLE     Bimodal regulation of an Elk subfamily K+ channel by
            phosphatidylinositol 4,5-bisphosphate
  JOURNAL   J Gen Physiol 146 (5), 357-374 (2015)
   PUBMED   26503718
REFERENCE   7  (bases 1 to 3758)
  AUTHORS   Wang,M., Deng,X., Ying,Q., Jin,T., Li,M. and Liang,C.
  TITLE     MicroRNA-224 targets ERG2 and contributes to malignant progressions
            of meningioma
  JOURNAL   Biochem Biophys Res Commun 460 (2), 354-361 (2015)
   PUBMED   25783051
  REMARK    GeneRIF: results indicated that downregulation of miR-224
            suppressed cell growth and resulted in the enhancement of cell
            apoptosis through activation of the ERG2-BAK-induced apoptosis
            pathway
REFERENCE   8  (bases 1 to 3758)
  AUTHORS   Gutman,G.A., Chandy,K.G., Grissmer,S., Lazdunski,M., McKinnon,D.,
            Pardo,L.A., Robertson,G.A., Rudy,B., Sanguinetti,M.C., Stuhmer,W.
            and Wang,X.
  TITLE     International Union of Pharmacology. LIII. Nomenclature and
            molecular relationships of voltage-gated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 473-508 (2005)
   PUBMED   16382104
  REMARK    Review article
REFERENCE   9  (bases 1 to 3758)
  AUTHORS   Bauer,C.K., Wulfsen,I., Schafer,R., Glassmeier,G., Wimmers,S.,
            Flitsch,J., Ludecke,D.K. and Schwarz,J.R.
  TITLE     HERG K(+) currents in human prolactin-secreting adenoma cells
  JOURNAL   Pflugers Arch 445 (5), 589-600 (2003)
   PUBMED   12634931
  REMARK    GeneRIF: Transcripts for HERG1 were present in all adenomas and
            although transcripts for HERG2 and HERG3 were also detected, their
            expression level was more variable.
REFERENCE   10 (bases 1 to 3758)
  AUTHORS   Ganetzky,B., Robertson,G.A., Wilson,G.F., Trudeau,M.C. and
            Titus,S.A.
  TITLE     The eag family of K+ channels in Drosophila and mammals
  JOURNAL   Ann N Y Acad Sci 868, 356-369 (1999)
   PUBMED   10414305
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB506421.1, AK296498.1,
            DB147394.1, CD632730.1, BM561167.1, AK090969.1, AA825356.1 and
            BE465143.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001278919.1.
            
            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, subfamily H. This member is a
            pore-forming (alpha) subunit. Alternative splicing results in
            multiple transcript variants that encode different isoforms.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1. It encodes
            isoform 3, which is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296498.1, SRR18074969.3173317.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314672.10/ ENSP00000318212.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DB506421.1         220-222
            4-535               AK296498.1         1-532
            536-558             DB147394.1         533-555
            559-907             AK296498.1         556-904
            908-1109            CD632730.1         35-236              c
            1110-1410           AK296498.1         1107-1407
            1411-1411           BM561167.1         145-145
            1412-3065           AK296498.1         1409-3062
            3066-3288           AK090969.1         1428-1650
            3289-3648           AA825356.1         74-433
            3649-3758           BE465143.1         4-113               c
FEATURES             Location/Qualifiers
     source          1..3758
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..3758
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /note="potassium voltage-gated channel subfamily H member
                     6"
                     /db_xref="GeneID:81033"
                     /db_xref="HGNC:HGNC:18862"
                     /db_xref="MIM:608168"
     exon            1..132
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..2933
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /note="isoform 3 is encoded by transcript variant 3;
                     eag-related gene member 2; ether-a-go-go-related protein
                     2; voltage-gated potassium channel subunit Kv11.2;
                     potassium voltage-gated channel, subfamily H
                     (eag-related), member 6; potassium channel, voltage gated
                     eag related subfamily H, member 6; voltage-gated inwardly
                     rectifying potassium channel KCNH6"
                     /codon_start=1
                     /product="voltage-gated inwardly rectifying potassium
                     channel KCNH6 isoform 3"
                     /protein_id="NP_001265848.1"
                     /db_xref="CCDS:CCDS62290.1"
                     /db_xref="GeneID:81033"
                     /db_xref="HGNC:HGNC:18862"
                     /db_xref="MIM:608168"
                     /translation="MPVRRGHVAPQNTYLDTIIRKFEGQSRKFLIANAQMENCAIIYC
                     NDGFCELFGYSRVEVMQQPCTCDFLTGPNTPSSAVSRLAQALLGAEECKVDILYYRKD
                     ASSFRCLVDVVPVKNEDGAVIMFILNFEDLAQLLAKCSSRSLSQRLLSQSFLGSEGSH
                     GRPGGPGPGTGRGKYRTISQIPQFTLNFVEFNLEKHRSSSTTEIEIIAPHKVVERTQN
                     VTEKVTQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPY
                     SAAFLLSDQDESRRGACSYTCSPLTVVDLIVDIMFVVDIVINFRTTYVNTNDEVVSHP
                     RRIAVHYFKGWFLIDMVAAIPFDLLIFRTGSDETTTLIGLLKTARLLRLVRVARKLDR
                     YSEYGAAVLFLLMCTFALIAHWLACIWYAIGNVERPYLEHKIGWLDSLGVQLGKRYNG
                     SDPASGPSVQDKYVTALYFTFSSLTSVGFGNVSPNTNSEKVFSICVMLIGSLMYASIF
                     GNVSAIIQRLYSGTARYHTQMLRVKEFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMN
                     AVLKGFPECLQADICLHLHRALLQHCPAFSGAGKGCLRALAVKFKTTHAPPGDTLVHL
                     GDVLSTLYFISRGSIEILRDDVVVAILGKNDIFGEPVSLHAQPGKSSADVRALTYCDL
                     HKIQRADLLEVLDMYPAFAESFWSKLEVTFNLRDAAGGLHSSPRQAPGSQDHQGFFLS
                     DNQSDAAPPLSISDASGLWPELLQEMPPRHSPQSPQEDPDCWPLKLGSRLEQLQAQMN
                     RLESRVSSDLSRILQLLQKPMPQGHASYILEAPASNDLALVPIASETTSPGPRLPQGF
                     LPPAQTPSYGDLDDCSPKHRNSSPRMPHLAVATDKTLAPSSEQEQPEGLWPPLASPLH
                     PLEVQGLICGPCFSSLPEHLGSVPKQLDFQRHGSDPGFAGSWGH"
     exon            133..363
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            364..525
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            526..731
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            732..1157
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1557
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1558..1757
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..2010
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2204
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            2205..2289
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..2452
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            2453..2639
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            2640..3758
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3734..3739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /note="hexamer: AATAAA"
     polyA_site      3758
                     /gene="KCNH6"
                     /gene_synonym="ERG-2; ERG2; hERG-2; HERG2; Kv11.2"
                     /note="major polyA site"
ORIGIN      
        1 ggagacgccg ggagccagtg gcgcctgtgg ctccgggcag gggccgcggc cgaaagatgc
       61 cggtccgcag gggccacgtc gctccccaaa acacttacct ggacaccatc atccgcaagt
      121 tcgagggcca aagtcggaag ttcctgattg ccaatgctca gatggagaac tgcgccatca
      181 tttactgcaa cgacggcttc tgcgaactct tcggctactc ccgagtggag gtgatgcagc
      241 aaccctgcac ctgcgacttc ctcacaggcc ccaacacacc aagcagcgcc gtgtcccgcc
      301 tagcgcaggc cctgctgggg gctgaggagt gcaaggtgga catcctctac taccgcaagg
      361 atgcctccag cttccgctgc ctggtagatg tggtgcccgt gaagaacgag gacggggctg
      421 tcatcatgtt cattctcaac ttcgaggacc tggcccagct cctggccaag tgcagcagcc
      481 gcagcttgtc ccagcgcctg ttgtcccaga gcttcctggg ctccgagggc tctcatggca
      541 ggccaggcgg accagggcca ggcacaggca ggggcaagta caggaccatc agccagatcc
      601 cacagttcac gctcaacttc gtggagttca acttggagaa gcaccgctcc agctccacca
      661 cggagattga gatcatcgcg ccccataagg tggtggagcg gacacagaac gtcactgaga
      721 aggtcaccca ggtcctgtcc ctgggcgcgg atgtgctgcc ggagtacaag ctgcaggcgc
      781 cgcgcatcca ccgctggacc atcctgcact acagcccctt caaggccgtg tgggactggc
      841 tcatcctgct gctggtcatc tacacggctg tcttcacgcc ctactcagcc gccttcctgc
      901 tcagcgatca ggacgaatca cggcgtgggg cctgcagcta tacctgcagt cccctcactg
      961 tggtggatct catcgtggac atcatgttcg tcgtggacat cgtcatcaac ttccgcacca
     1021 cctatgtcaa caccaatgat gaggtggtca gccacccccg ccgcatcgcc gtccactact
     1081 tcaagggctg gttcctcatt gacatggtgg ccgccatccc tttcgacctc ctgatcttcc
     1141 gcactggctc cgatgagacc acaaccctga ttgggctatt gaagacagcg cggctgctgc
     1201 ggctggtgcg cgtagcacgg aagctggacc gctactctga gtatggggcg gctgtgctct
     1261 tcttgctcat gtgcaccttc gcgctcatag cgcactggct ggcctgcatc tggtacgcca
     1321 tcggcaatgt ggagcggccc tacctagaac acaagatcgg ctggctggac agcctgggtg
     1381 tgcagcttgg caagcgctac aacggcagcg acccagcctc gggcccctcg gtgcaggaca
     1441 agtatgtcac agccctctac ttcaccttca gcagcctcac cagcgtgggc ttcggcaatg
     1501 tctcgcccaa caccaactcc gagaaggtct tctccatctg cgtcatgctc atcggctccc
     1561 tgatgtacgc cagcatcttc gggaacgtgt ccgcgatcat ccagcgcctg tactcgggca
     1621 ccgcgcgcta ccacacgcag atgctgcgtg tcaaggagtt catccgcttc caccagatcc
     1681 ccaacccact gcgccagcgc ctggaggagt atttccagca cgcctggtcc tacaccaatg
     1741 gcattgacat gaacgcggtg ctgaagggct tccccgagtg cctgcaggct gacatctgcc
     1801 tgcacctgca ccgcgcactg ctgcagcact gcccagcttt cagcggcgcc ggcaagggct
     1861 gcctgcgcgc gctagccgtc aagttcaaga ccacccacgc gccgcctggg gacacgctgg
     1921 tgcacctcgg cgacgtgctc tccaccctct acttcatctc ccgaggctcc atcgagatcc
     1981 tgcgcgacga cgtggtcgtg gccatcctag gaaagaatga catctttggg gaacccgtca
     2041 gcctccatgc ccagccaggc aagtccagtg cagacgtgcg ggctctgacc tactgcgacc
     2101 tgcacaagat ccagcgggca gatctgctgg aggtgctgga catgtacccg gcctttgcgg
     2161 agagcttctg gagtaagctg gaggtcacct tcaacctgcg ggacgcagcc gggggtctcc
     2221 actcatcccc ccgacaggct cctggcagcc aagaccacca aggtttcttt ctcagtgaca
     2281 accagtcaga tgcagcccct cccctgagca tctcagatgc atctggcctc tggcctgagc
     2341 tactgcagga aatgccccca aggcacagcc cccaaagccc tcaggaagac ccagattgct
     2401 ggcctctgaa gctgggctcc aggctagagc agctccaggc ccagatgaac aggctggagt
     2461 cccgcgtgtc ctcagacctc agccgcatct tgcagctcct ccagaagccc atgccccagg
     2521 gccacgccag ctacattctg gaagcccctg cctccaatga cctggccttg gttcctatag
     2581 cctcggagac gacgagtcca gggcccaggc tgccccaggg ctttctgcct cctgcacaga
     2641 ccccaagcta tggagacttg gatgactgta gtccaaagca caggaactcc tcccccagga
     2701 tgcctcacct ggctgtggca acggacaaaa ctctggcacc atcctcagaa caggaacagc
     2761 ctgaggggct ctggccaccc ctagcctcac ctctacatcc cctggaagta caaggactca
     2821 tctgtggtcc ctgcttctcc tccctccctg aacaccttgg ctctgttccc aagcagctgg
     2881 acttccagag acatggctca gatcctggat ttgcagggag ttggggccac tgaactccaa
     2941 gataaagaca ccatgagggg actgaaggtg ggcaaggtga gagttaagga tcttggggag
     3001 gtggccgggt gcagtggctc gcctgtaatc ccagcacttt gggaggccga ggcgggcgga
     3061 tcagaccatc ctggctaaca cggtgaaacc ccacctctac taaaattaaa aaagaaaaaa
     3121 aatagccggg cgtggtggca ggcgcctgta atcccagcta ctggggaggc tgaggcagga
     3181 gaatggcatg aacccgggag gtggaggttg cagggagccg aggccgcacc actgcactcc
     3241 agcctgggtg acagagtgag actccaactc aaaaaaaaaa aaaaaaaaga tcttggggag
     3301 gcagacagcc ccccagatgg gcctctccta aagtagctac aaactgctga tccaggtgac
     3361 ccaggatggc gtgggtgaag aagctcacga cttttcccag cctcctccag ggctccattt
     3421 aaacagcaag cctggtgcag ggtgggagag tctcaggtgt ggaggcagct tacaggattg
     3481 agggggcagt gaagaaagag gtttctgatc tacatgagta ccttgctctg agcctcccag
     3541 ctcagaaccc tccagcacct catggctcag caccaaggcc cggggttggt cagaactctt
     3601 accatgagcc tctgacctgg ctggagatgg aggtatgttc tgtggcagac atgtcaggac
     3661 agtcctccag ccctctgctc ctgatggttc tgtgacattg ggtctcttga gggcagtgga
     3721 gtgtcacaca gctaataaag tacacatttc atgttgga
//
