LOCUS       NM_133497               2178 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens potassium voltage-gated channel modifier subfamily V
            member 2 (KCNV2), mRNA.
ACCESSION   NM_133497
VERSION     NM_133497.4
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 2178)
  AUTHORS   de Guimaraes,T.A.C., Georgiou,M., Robson,A.G., Fujinami,K.,
            Vincent,A., Nasser,F., Khateb,S., Mahroo,O.A., Pontikos,N.,
            Vargas,M.E., Thiadens,A.A.H.J., Carvalho,E.R., Nguyen,X.T.,
            Arno,G., Fujinami-Yokokawa,Y., Liu,X., Tsunoda,K., Hayashi,T.,
            Jimenez-Rolando,B., Martin-Merida,M.I., Avila-Fernandez,A.,
            Salas,E.C., Garcia-Sandoval,B., Ayuso,C., Sharon,D., Kohl,S.,
            Huckfeldt,R.M., Banin,E., Pennesi,M.E., Khan,A.O., Wissinger,B.,
            Webster,A.R., Heon,E., Boon,C.J.F., Zrenner,E. and Michaelides,M.
  TITLE     KCNV2-associated retinopathy: genotype-phenotype correlations -
            KCNV2 study group report 3
  JOURNAL   Br J Ophthalmol 108 (8), 1137-1144 (2024)
   PUBMED   37852740
  REMARK    GeneRIF: KCNV2-associated retinopathy: genotype-phenotype
            correlations - KCNV2 study group report 3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2178)
  AUTHORS   Khan,Z. and Khan,A.O.
  TITLE     Initial diagnoses of patients found to be homozygous for a KCNV2
            founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)
  JOURNAL   Ophthalmic Genet 44 (5), 512-514 (2023)
   PUBMED   36278409
  REMARK    GeneRIF: Initial diagnoses of patients found to be homozygous for a
            KCNV2 founder mutation on the Arabian Peninsula (c.427G>T;
            p.Glu143*).
REFERENCE   3  (bases 1 to 2178)
  AUTHORS   Liu,M., Zhu,Y., Huang,L., Jiang,W., Wu,N., Song,Y., Lu,Y. and Ma,Y.
  TITLE     Compound heterozygous KCNV2 variants contribute to cone dystrophy
            with supernormal rod responses in a Chinese family
  JOURNAL   Mol Genet Genomic Med 9 (10), e1795 (2021)
   PUBMED   34535971
  REMARK    GeneRIF: Compound heterozygous KCNV2 variants contribute to cone
            dystrophy with supernormal rod responses in a Chinese family.
REFERENCE   4  (bases 1 to 2178)
  AUTHORS   Liu,P.K., Ryu,J., Yeh,L.K., Chen,K.J., Tsang,S.H., Liu,L. and
            Wang,N.K.
  TITLE     A novel KCNV2 mutation in a patient taking hydroxychloroquine
            associated with cone dystrophy with supernormal rod response
  JOURNAL   Ophthalmic Genet 42 (4), 458-463 (2021)
   PUBMED   33960280
  REMARK    GeneRIF: A novel KCNV2 mutation in a patient taking
            hydroxychloroquine associated with cone dystrophy with supernormal
            rod response.
REFERENCE   5  (bases 1 to 2178)
  AUTHORS   Jiang,X., Rashwan,R., Voigt,V., Nerbonne,J., Hunt,D.M. and
            Carvalho,L.S.
  TITLE     Molecular, Cellular and Functional Changes in the Retinas of Young
            Adult Mice Lacking the Voltage-Gated K+ Channel Subunits Kv8.2 and
            K2.1
  JOURNAL   Int J Mol Sci 22 (9), 4877 (2021)
   PUBMED   34063002
  REMARK    GeneRIF: Molecular, Cellular and Functional Changes in the Retinas
            of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits
            Kv8.2 and K2.1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2178)
  AUTHORS   Wu,H., Cowing,J.A., Michaelides,M., Wilkie,S.E., Jeffery,G.,
            Jenkins,S.A., Mester,V., Bird,A.C., Robson,A.G., Holder,G.E.,
            Moore,A.T., Hunt,D.M. and Webster,A.R.
  TITLE     Mutations in the gene KCNV2 encoding a voltage-gated potassium
            channel subunit cause 'cone dystrophy with supernormal rod
            electroretinogram' in humans
  JOURNAL   Am J Hum Genet 79 (3), 574-579 (2006)
   PUBMED   16909397
  REMARK    GeneRIF: Mutations mapped to KCNV2 are responsible for cone
            dystrophy with supernormal rod electoretinogram.
REFERENCE   7  (bases 1 to 2178)
  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   8  (bases 1 to 2178)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   9  (bases 1 to 2178)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2178)
  AUTHORS   Ottschytsch,N., Raes,A., Van Hoorick,D. and Snyders,D.J.
  TITLE     Obligatory heterotetramerization of three previously
            uncharacterized Kv channel alpha-subunits identified in the human
            genome
  JOURNAL   Proc Natl Acad Sci U S A 99 (12), 7986-7991 (2002)
   PUBMED   12060745
  REMARK    GeneRIF: Obligatory heterotetramerization of three previously
            uncharacterized Kv channel subunits identified in human genome
            (Kv6.3)(Kv10.1) (Kv11.1)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354723.17, BC101352.1,
            BC101353.2, AF348983.1 and EL952823.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_133497.3.
            
            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 voltage-gated channel subfamily V. This member is
            identified as a 'silent subunit', and it does not form
            homomultimers, but forms heteromultimers with several other
            subfamily members. Through obligatory heteromerization, it exerts a
            function-altering effect on other potassium channel subunits. This
            protein is strongly expressed in pancreas and has a weaker
            expression in several other tissues. [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 :: BC101352.1, AF348983.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382082.4/ ENSP00000371514.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AL354723.17        50861-50876
            17-190              BC101352.1         1-174
            191-1024            BC101353.2         175-1008
            1025-1615           BC101352.1         1009-1599
            1616-1898           AF348983.1         1390-1672
            1899-2178           EL952823.1         231-510
FEATURES             Location/Qualifiers
     source          1..2178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.2"
     gene            1..2178
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /note="potassium voltage-gated channel modifier subfamily
                     V member 2"
                     /db_xref="GeneID:169522"
                     /db_xref="HGNC:HGNC:19698"
                     /db_xref="MIM:607604"
     exon            1..1586
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1868
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /note="voltage-gated potassium channel subunit Kv8.2;
                     potassium channel, subfamily V, member 2; potassium
                     channel, voltage gated modifier subfamily V, member 2"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily V
                     member 2"
                     /protein_id="NP_598004.1"
                     /db_xref="CCDS:CCDS6447.1"
                     /db_xref="GeneID:169522"
                     /db_xref="HGNC:HGNC:19698"
                     /db_xref="MIM:607604"
                     /translation="MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIH
                     GWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGEVTTAKPEGPSDPPALLSTLNVN
                     VGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
                     VYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQH
                     ELRAQAQVEEAEELFRDMRFYGPQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVA
                     LALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLRLASTPDLRRFARSA
                     LNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLAR
                     HSTGLRAFGFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWW
                     AAVSISTVGYGDMYPETHLGRFFAFLCIAFGIILNGMPISILYNKFSDYYSKLKAYEY
                     TTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN"
     exon            1587..2178
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2158..2163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /note="hexamer: AATAAA"
     polyA_site      2178
                     /gene="KCNV2"
                     /gene_synonym="KV11.1; Kv8.2; RCD3B"
                     /note="major polyA site"
ORIGIN      
        1 agagcagtca acagctgact gcgttcagac cctgcaggct gggctggcct gcccaggacc
       61 tgagaagggg cagctccggt ggcaatgtct gagcccctag ctgtgctggt ccgggctggc
      121 ctctctaaga cagtgcaggc cacgtgatcc atcctcctag aggcagtgag caggtgaggg
      181 acccctacca cagccaggag gaaaaagcta ggcgtccact ttccgcagcc atgctcaaac
      241 agagtgagag gagacggtcc tggagctaca ggccctggaa cacgacggag aatgagggca
      301 gccaacaccg caggagcatt tgctccctgg gtgcccgttc cggctcccag gccagcatcc
      361 acggctggac agagggcaac tataactact acatcgagga agacgaagac ggcgaggagg
      421 aggaccagtg gaaggacgac ctggcagaag aggaccagca ggcaggggag gtcaccaccg
      481 ccaagcccga gggccccagc gaccctccgg ccctgctgtc cacgctgaat gtgaacgtgg
      541 gtggccacag ctaccagctg gactactgcg agctggccgg cttccccaag acgcgcctag
      601 gtcgcctggc cacctccacc agccgcagcc gccagctaag cctgtgcgac gactacgagg
      661 agcagacaga cgaatacttc ttcgaccgcg acccggccgt cttccagctg gtctacaatt
      721 tctacctgtc cggggtgctg ctggtgctcg acgggctgtg tccgcgccgc ttcctggagg
      781 agctgggcta ctggggcgtg cggctcaagt acacgccacg ctgctgccgc atctgcttcg
      841 aggagcggcg cgacgagctg agcgaacggc tcaagatcca gcacgagctg cgcgcgcagg
      901 cgcaggtcga ggaggcggag gaactcttcc gcgacatgcg cttctacggc ccgcagcggc
      961 gccgcctctg gaacctcatg gagaagccat tctcctcggt ggccgccaag gccatcgggg
     1021 tggcctccag caccttcgtg ctcgtctccg tggtggcgct ggcgctcaac accgtggagg
     1081 agatgcagca gcactcgggg cagggcgagg gcggcccaga cctgcggccc atcctggagc
     1141 acgtggagat gctgtgcatg ggcttcttca cgctcgagta cctgctgcgc ctagcctcca
     1201 cgcccgacct gaggcgcttc gcgcgcagcg ccctcaacct ggtggacctg gtggccatcc
     1261 tgccgctcta ccttcagctg ctgctcgagt gcttcacggg cgagggccac caacgcggcc
     1321 agacggtggg cagcgtgggt aaggtgggtc aggtgttgcg cgtcatgcgc ctcatgcgca
     1381 tcttccgcat cctcaagctg gcgcgccact ccaccggact gcgtgccttc ggcttcacgc
     1441 tgcgccagtg ctaccagcag gtgggctgcc tgctgctctt catcgccatg ggcatcttca
     1501 ctttctctgc ggctgtctac tctgtggagc acgatgtgcc cagcaccaac ttcactacca
     1561 tcccccactc ctggtggtgg gccgcggtga gcatctccac cgtgggctac ggagacatgt
     1621 acccagagac ccacctgggc aggttttttg ccttcctctg cattgctttt gggatcattc
     1681 tcaacgggat gcccatttcc atcctctaca acaagttttc tgattactac agcaagctga
     1741 aggcttatga gtataccacc atacgcaggg agaggggaga ggtgaacttc atgcagagag
     1801 ccagaaagaa gatagctgag tgtttgcttg gaagcaaccc acagctcacc ccaagacaag
     1861 agaattagta ttttatagga catgtggctg gtagattcca tgaacttcaa ggcttcattg
     1921 ctcttttttt aatcattatg attggcagca aaaggaaatg tgaagcagac atacacaaag
     1981 gccatttcgt tcacaaagta ctgcctctag aaatactcat tttggcccaa actcagaatg
     2041 tctcatagtt gctctgtgtt gtgtgaaaca tctgaccttc tcaatgacgt tgatattgaa
     2101 aacctgaggg gagcaacagc ttagattttt cttgtagctt ctcgtggcat ctagctcaat
     2161 aaatattttt ggacttga
//
