LOCUS       NM_012285               3788 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily H member 4
            (KCNH4), mRNA.
ACCESSION   NM_012285
VERSION     NM_012285.3
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 3788)
  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   2  (bases 1 to 3788)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 3788)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3788)
  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   5  (bases 1 to 3788)
  AUTHORS   Zou,A., Lin,Z., Humble,M., Creech,C.D., Wagoner,P.K., Krafte,D.,
            Jegla,T.J. and Wickenden,A.D.
  TITLE     Distribution and functional properties of human KCNH8 (Elk1)
            potassium channels
  JOURNAL   Am J Physiol Cell Physiol 285 (6), C1356-C1366 (2003)
   PUBMED   12890647
REFERENCE   6  (bases 1 to 3788)
  AUTHORS   Miyake,A., Mochizuki,S., Yokoi,H., Kohda,M. and Furuichi,K.
  TITLE     New ether-a-go-go K(+) channel family members localized in human
            telencephalon
  JOURNAL   J Biol Chem 274 (35), 25018-25025 (1999)
   PUBMED   10455180
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB022698.1, AW084816.1 and
            AC099811.7.
            
            On Nov 22, 2018 this sequence version replaced NM_012285.2.
            
            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. The gene is brain-specific, and
            located in the neocortex and the striatum. It may be involved in
            cellular excitability of restricted neurons in the central nervous
            system. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB022698.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264661.4/ ENSP00000264661.2
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3580              AB022698.1         137-3716
            3581-3787           AW084816.1         1-207               c
            3788-3788           AC099811.7         28632-28632         c
FEATURES             Location/Qualifiers
     source          1..3788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3788
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /note="potassium voltage-gated channel subfamily H member
                     4"
                     /db_xref="GeneID:23415"
                     /db_xref="HGNC:HGNC:6253"
                     /db_xref="MIM:604528"
     exon            1..273
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..3251
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /note="ether-a-go-go K(+) channel family member;
                     ether-a-go-go-like potassium channel 1; brain-specific
                     eag-like channel 2; ELK channel 1; potassium channel,
                     voltage gated eag related subfamily H, member 4;
                     voltage-gated potassium channel subunit Kv12.3; potassium
                     voltage-gated channel, subfamily H (eag-related), member
                     4"
                     /codon_start=1
                     /product="voltage-gated delayed rectifier potassium
                     channel KCNH4"
                     /protein_id="NP_036417.1"
                     /db_xref="CCDS:CCDS11420.1"
                     /db_xref="GeneID:23415"
                     /db_xref="HGNC:HGNC:6253"
                     /db_xref="MIM:604528"
                     /translation="MPVMKGLLAPQNTFLDTIATRFDGTHSNFLLANAQGTRGFPIVY
                     CSDGFCELTGYGRTEVMQKTCSCRFLYGPETSEPALQRLHKALEGHQEHRAEICFYRK
                     DGSAFWCLLDMMPIKNEMGEVVLFLFSFKDITQSGSPGLGPQGGRGDSNHENSLGRRG
                     ATWKFRSARRRSRTVLHRLTGHFGRRGQGGMKANNNVFEPKPSVPEYKVASVGGSRCL
                     LLHYSVSKAIWDGLILLATFYVAVTVPYNVCFSGDDDTPITSRHTLVSDIAVEMLFIL
                     DIILNFRTTYVSQSGQVISAPRSIGLHYLATWFFIDLIAALPFDLLYIFNITVTSLVH
                     LLKTVRLLRLLRLLQKLERYSQCSAVVLTLLMSVFALLAHWMACIWYVIGRREMEAND
                     PLLWDIGWLHELGKRLEVPYVNGSVGGPSRRSAYIAALYFTLSSLTSVGFGNVCANTD
                     AEKIFSICTMLIGALMHAVVFGNVTAIIQRMYSRRSLYHSRMKDLKDFIRVHRLPRPL
                     KQRMLEYFQTTWAVNSGIDANELLRDFPDELRADIAMHLNREILQLPLFGAASRGCLR
                     ALSLHIKTSFCAPGEYLLRRGDALQAHYYVCSGSLEVLRDNMVLAILGKGDLIGADIP
                     EPGQEPGLGADPNFVLKTSADVKALTYCGLQQLSSRGLAEVLRLYPEYGAAFRAGLPR
                     DLTFNLRQGSDTSGLSRFSRSPRLSQPRSESLGSSSDKTLPSITEAESGAEPGGGPRP
                     RRPLLLPNLSPARPRGSLVSLLGEELPPFSALVSSPSLSPSLSPALAGQGHSASPHGP
                     PRCSAAWKPPQLLIPPLGTFGPPDLSPRIVDGIEDSGSTAEAPSFRFSRRPELPRPRS
                     QAPPTGTRPSPELASEAEEVKEKVCRLNQEISRLNQEVSQLSRELRHIMGLLQARLGP
                     PGHPAGSAWTPDPPCPQLRPPCLSPCASRPPPSLQDTTLAEVHCPASVGTMETGTALL
                     DLRPSILPPYPSEPDPLGPSPVPEASPPTPSLLRHSFQSRSDTFH"
     exon            274..507
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            508..654
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            655..782
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            783..1026
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1184
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1392
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1587
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1787
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..2037
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2282
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2283..2321
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2322..2674
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2675..2781
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2782..2855
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            2856..3560
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     exon            3561..3788
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3768..3773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /note="hexamer: AATAAA"
     polyA_site      3788
                     /gene="KCNH4"
                     /gene_synonym="BEC2; ELK1; Kv12.3"
                     /note="major polyA site"
ORIGIN      
        1 gaccgaaacg gcgctgagcc gagccgagag ctacggggtt cggagcagag gcagcggcag
       61 cggcagcggc agtaagaggg aggggaggag gcaggagggc gcatggggcg ccccggcccc
      121 tccgacagcg cgccccctcc ggcccggccg cgctgaaagc tccccagcgc cgcgccttga
      181 acccacgccc cggggccatg ccggtcatga aggggttgct ggccccgcaa aacaccttcc
      241 tggacaccat cgccacccgt tttgacggaa cgcacagcaa cttcctgctg gccaacgcac
      301 agggcacacg gggctttccc atcgtctact gctccgacgg cttctgcgag ctcacaggct
      361 acggtcgcac cgaggtcatg cagaagacct gcagctgccg tttcctctac ggcccagaga
      421 ccagtgagcc agccctgcag cgtctgcaca aagccctgga gggccaccag gagcaccggg
      481 ctgaaatctg cttctaccgc aaggatggct cagccttttg gtgcctcctg gacatgatgc
      541 ccatcaagaa tgagatgggg gaggtcgtgc tgttcctctt ttccttcaag gatatcactc
      601 agagtggaag cccaggactt ggcccccaag gaggccgcgg ggacagtaat cacgaaaact
      661 cccttggtag aaggggagcc acctggaaat ttcggtctgc cagaagacgg agccgtactg
      721 tcctacaccg actgaccggc cactttggcc gccggggcca gggaggcatg aaggccaata
      781 ataacgtgtt tgagccaaag ccatcagtgc ccgagtacaa ggtggcctcc gtgggggggt
      841 ctcgctgcct cctcctccac tacagcgtct ccaaggccat ctgggacggc cttatcctcc
      901 ttgccacctt ctacgttgcg gtcaccgtcc cctacaatgt ctgtttctcg ggtgacgatg
      961 acacccccat cacttcgcga cacacccttg tcagcgacat cgccgtggaa atgctcttca
     1021 tcctagatat catcctgaac ttccgcacca cctatgtgtc ccagtccggc caggtaatct
     1081 ctgctcctcg ttccattggc ctccactacc tggccacctg gttcttcatc gaccttattg
     1141 ctgctctgcc ctttgacctg ctttacatct tcaacatcac cgtgacctcg ctggtgcacc
     1201 tactgaagac agtgcggctg ttgcggctgc tgcggctgct gcagaagctg gagcggtact
     1261 ctcagtgcag tgctgtggtg ctcacgctgc tcatgtcggt ctttgcgctc cttgcccact
     1321 ggatggcctg catctggtat gtcatcgggc gccgggagat ggaggccaat gacccgctgc
     1381 tctgggacat tggctggttg catgagttgg gcaagcgtct ggaggtgccc tatgtcaatg
     1441 gctcggtggg cggcccatca cggcgcagcg cctacatcgc ggcactgtac ttcactctaa
     1501 gcagcctcac cagtgtgggc tttggcaacg tgtgtgccaa caccgacgcg gagaagatct
     1561 tctccatctg cacgatgctc ataggcgccc tgatgcacgc tgtggtgttc gggaacgtga
     1621 cagccatcat ccagcgcatg tactcgcgcc gctcgctcta ccacagccgc atgaaggacc
     1681 tcaaggactt catccgtgtg caccgcctgc cgcggccgct caagcagcgc atgctcgaat
     1741 acttccagac cacgtgggcc gtcaacagcg gcatcgacgc caacgagtta ctgcgtgact
     1801 tcccagacga gctgagagct gacattgcta tgcacctgaa tcgggagatc ctgcagctgc
     1861 cgttgttcgg ggcagcgagc aggggctgcc tgcgggccct atcgctgcac atcaagacct
     1921 cgttctgcgc tccgggcgag tacctgttgc gccgtgggga tgccctgcag gcacattact
     1981 atgtctgctc cggctcgctt gaggtgctcc gagacaacat ggtgctggcc atcctgggga
     2041 agggggacct gattggagca gatatccctg agccggggca ggagcctggg ttgggagcag
     2101 acccaaactt cgtgctaaag accagtgctg atgtgaaagc tctgacctac tgtggcctgc
     2161 agcagctgag cagccgaggg ctggctgagg tcctgaggct ctatcctgag tatggggctg
     2221 ccttccgggc tggcctgccc cgggacctca ccttcaacct gcgccagggc tctgacacca
     2281 gtggcctcag ccgcttttcc cgatcccctc gcctctccca gccccgctca gaaagcctcg
     2341 gctcctcctc agacaagacg ctgccatcca tcacagaggc cgagagtggc gcggagcctg
     2401 ggggtggtcc caggccccga cggcccctcc tgctgcccaa cctcagccca gcacggcctc
     2461 ggggctccct ggtcagcctt ttgggcgagg agctgccccc attctcagcc cttgtctcct
     2521 ctccttcctt atccccatcc ctgtcccctg ccctggctgg ccagggccac agtgcctccc
     2581 ctcacggccc ccccaggtgc tctgctgcct ggaagccccc tcagcttctc attcccccac
     2641 tgggaacctt tggacctccg gacctcagtc cccggatagt ggatggcatt gaggactctg
     2701 gcagcacagc tgaggcccct tcattccgat tcagcaggag gcctgaactg ccaaggcccc
     2761 gctcccaggc gccccctaca gggaccaggc ccagcccaga attggccagt gaggctgagg
     2821 aggtgaagga aaaggtttgc cggctgaacc aggagatctc tcgtctcaat caggaggtgt
     2881 ctcagcttag ccgggagctg cggcacatca tgggcctgct gcaggccagg ctgggtcccc
     2941 caggccaccc agcaggctcc gcttggaccc cagaccctcc ttgtccacag ctgaggccac
     3001 catgcctctc tccttgtgcg tccagaccac cacccagcct ccaggatact acgcttgctg
     3061 aagttcactg cccagccagt gtggggacca tggagacagg gactgcgctc ctggacttga
     3121 gaccttccat attgcccccc tacccctcag agcctgaccc tctgggaccc tctccagtgc
     3181 cagaggcctc acccccaacc ccaagcctct tgaggcacag tttccagtcc aggtcagaca
     3241 cgttccactg accctggccc agggcccagg cctgtctggg gtgggcgctg ccgctcacca
     3301 ctcagggagg acctgggccc cttggcttcc tgccttgggg tcagcagcca ccagctggcc
     3361 tggttggctc tggatttctg gactttttaa tgaagcgtgg ttacctctga cgctattccc
     3421 ttttccaagc cttccccaac ctccccctct gtgaggggag ccacctgagg gctgtggaac
     3481 ccagcaggca tgagatgaac cgcagtgccc attgggctgg gcagatgaga tcctactttc
     3541 tccccaggac ctggaggcag gctgtctctc aaggtggtct cttctgctgc tagcaactca
     3601 aaaatcccaa cagcactccc tatcctttcc ctgaccccag accgctgcca agcctgttct
     3661 cccccattac aacatggtct cactcagggc ctggactgct ccaaaactcg cccaggtctc
     3721 cagctctcct ctaccaccca acaccctggg ctcacttttg gataggaaat aaactcttta
     3781 tttttgta
//
