LOCUS       NM_002252               2341 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens potassium voltage-gated channel modifier subfamily S
            member 3 (KCNS3), transcript variant 1, mRNA.
ACCESSION   NM_002252
VERSION     NM_002252.5
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 2341)
  AUTHORS   Zheng,R., Qiao,S., Chen,Y., Jin,C., Fang,Y., Lin,Z., Xue,N.,
            Yan,Y., Gu,L., Gao,T., Tian,J., Yan,Y., Yin,X., Pu,J. and Zhang,B.
  TITLE     Association analysis and polygenic risk score evaluation of 38
            GWAS-identified Loci in a Chinese population with Parkinson's
            disease
  JOURNAL   Neurosci Lett 762, 136150 (2021)
   PUBMED   34352340
  REMARK    GeneRIF: Association analysis and polygenic risk score evaluation
            of 38 GWAS-identified Loci in a Chinese population with Parkinson's
            disease.
REFERENCE   2  (bases 1 to 2341)
  AUTHORS   Georgiev,D., Arion,D., Enwright,J.F., Kikuchi,M., Minabe,Y.,
            Corradi,J.P., Lewis,D.A. and Hashimoto,T.
  TITLE     Lower gene expression for KCNS3 potassium channel subunit in
            parvalbumin-containing neurons in the prefrontal cortex in
            schizophrenia
  JOURNAL   Am J Psychiatry 171 (1), 62-71 (2014)
   PUBMED   24170294
  REMARK    GeneRIF: By in situ hybridization, KCNS3 mRNA levels were 23% lower
            in schizophrenia subjects than in controls. At the cellular level,
            both KCNS3 mRNA-expressing neuron density and KCNS3 mRNA level per
            neuron were significantly lower.
REFERENCE   3  (bases 1 to 2341)
  AUTHORS   Fyfe,G.K., Panicker,S., Jones,R.L. and Wareing,M.
  TITLE     Expression of an electrically silent voltage-gated potassium
            channel in the human placenta
  JOURNAL   J Obstet Gynaecol 32 (7), 624-629 (2012)
   PUBMED   22943705
  REMARK    GeneRIF: study concluded that potassium voltage-gated channel
            K(V)9.3 is localised to human placental vascular tissues and
            syncytiotrophoblast
REFERENCE   4  (bases 1 to 2341)
  AUTHORS   Hristov,K.L., Chen,M., Afeli,S.A., Cheng,Q., Rovner,E.S. and
            Petkov,G.V.
  TITLE     Expression and function of K(V)2-containing channels in human
            urinary bladder smooth muscle
  JOURNAL   Am J Physiol Cell Physiol 302 (11), C1599-C1608 (2012)
   PUBMED   22422395
  REMARK    GeneRIF: stromatoxin-1 -sensitive KV2-containing channels are
            expressed in detrusor smooth muscle (DSM); they control DSM
            excitability, intracellular Ca2+ levels, and myogenic and
            nerve-evoked contractions
REFERENCE   5  (bases 1 to 2341)
  AUTHORS   Zhong,X.Z., Abd-Elrahman,K.S., Liao,C.H., El-Yazbi,A.F.,
            Walsh,E.J., Walsh,M.P. and Cole,W.C.
  TITLE     Stromatoxin-sensitive, heteromultimeric Kv2.1/Kv9.3 channels
            contribute to myogenic control of cerebral arterial diameter
  JOURNAL   J Physiol 588 (Pt 22), 4519-4537 (2010)
   PUBMED   20876197
  REMARK    GeneRIF: There is evidence of heteromultimeric Kv2.1/Kv9.3 channel
            expression in control of middle cerebral arterial diameter.
REFERENCE   6  (bases 1 to 2341)
  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   7  (bases 1 to 2341)
  AUTHORS   Kerschensteiner,D., Soto,F. and Stocker,M.
  TITLE     Fluorescence measurements reveal stoichiometry of K+ channels
            formed by modulatory and delayed rectifier alpha-subunits
  JOURNAL   Proc Natl Acad Sci U S A 102 (17), 6160-6165 (2005)
   PUBMED   15827117
  REMARK    GeneRIF: formation of heteromeric Kv2.1/Kv9.3 channels of fixed
            stoichiometry consisting of three Kv2.1 subunits and one Kv9.3
            subunit
REFERENCE   8  (bases 1 to 2341)
  AUTHORS   Hao,K., Niu,T., Xu,X., Fang,Z. and Xu,X.
  TITLE     Single-nucleotide polymorphisms of the KCNS3 gene are significantly
            associated with airway hyperresponsiveness
  JOURNAL   Hum Genet 116 (5), 378-383 (2005)
   PUBMED   15714333
  REMARK    GeneRIF: Our findings suggest that SNPs located at the 3'
            downstream region of KCNS3 have a significant role in the etiology
            of AHR.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2341)
  AUTHORS   Shepard,A.R. and Rae,J.L.
  TITLE     Electrically silent potassium channel subunits from human lens
            epithelium
  JOURNAL   Am J Physiol 277 (3), C412-C424 (1999)
   PUBMED   10484328
REFERENCE   10 (bases 1 to 2341)
  AUTHORS   Patel,A.J., Lazdunski,M. and Honore,E.
  TITLE     Kv2.1/Kv9.3, a novel ATP-dependent delayed-rectifier K+ channel in
            oxygen-sensitive pulmonary artery myocytes
  JOURNAL   EMBO J 16 (22), 6615-6625 (1997)
   PUBMED   9362476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093731.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002252.4.
            
            Summary: Voltage-gated potassium channels form the largest and most
            diversified class of ion channels and are present in both excitable
            and nonexcitable cells. Their main functions are associated with
            the regulation of the resting membrane potential and the control of
            the shape and frequency of action potentials. The alpha subunits
            are of 2 types: those that are functional by themselves and those
            that are electrically silent but capable of modulating the activity
            of specific functional alpha subunits. The protein encoded by this
            gene is not functional by itself but can form heteromultimers with
            member 1 and with member 2 (and possibly other members) of the
            Shab-related subfamily of potassium voltage-gated channel proteins.
            This gene belongs to the S subfamily of the potassium channel
            family. Alternatively spliced transcript variants encoding the same
            protein have been found for this gene. [provided by RefSeq, Sep
            2013].
            
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein.
            
            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 :: BC015947.2, SRR1660809.153862.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304101.9/ ENSP00000305824.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-140               AC093731.2         123597-123736
            141-332             AC093731.2         162610-162801
            333-2341            AC093731.2         175880-177888
FEATURES             Location/Qualifiers
     source          1..2341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.2"
     gene            1..2341
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /note="potassium voltage-gated channel modifier subfamily
                     S member 3"
                     /db_xref="GeneID:3790"
                     /db_xref="HGNC:HGNC:6302"
                     /db_xref="MIM:603888"
     exon            1..140
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /inference="alignment:Splign:2.1.0"
     exon            141..332
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /inference="alignment:Splign:2.1.0"
     exon            333..2341
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             392..1867
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /note="voltage-gated potassium channel protein Kv9.3;
                     Shab-related delayed-rectifier K+ channel alpha subunit 3;
                     potassium voltage-gated channel, delayed-rectifier,
                     subfamily S, member 3; potassium voltage-gated channel
                     delayed-rectifier protein S3; voltage-gated potassium
                     channel subunit Kv9.3; delayed-rectifier K(+) channel
                     alpha subunit 3; delayed-rectifier potassium channel
                     subunit Kv9.3"
                     /codon_start=1
                     /product="delayed-rectifier potassium channel regulatory
                     subunit KCNS3"
                     /protein_id="NP_002243.3"
                     /db_xref="CCDS:CCDS1692.1"
                     /db_xref="GeneID:3790"
                     /db_xref="HGNC:HGNC:6302"
                     /db_xref="MIM:603888"
                     /translation="MVFGEFFHRPGQDEELVNLNVGGFKQSVDQSTLLRFPHTRLGKL
                     LTCHSEEAILELCDDYSVADKEYYFDRNPSLFRYVLNFYYTGKLHVMEELCVFSFCQE
                     IEYWGINELFIDSCCSNRYQERKEENHEKDWDQKSHDVSTDSSFEESSLFEKELEKFD
                     TLRFGQLRKKIWIRMENPAYCLSAKLIAISSLSVVLASIVAMCVHSMSEFQNEDGEVD
                     DPVLEGVEIACIAWFTGELAVRLAAAPCQKKFWKNPLNIIDFVSIIPFYATLAVDTKE
                     EESEDIENMGKVVQILRLMRIFRILKLARHSVGLRSLGATLRHSYHEVGLLLLFLSVG
                     ISIFSVLIYSVEKDDHTSSLTSIPICWWWATISMTTVGYGDTHPVTLAGKLIASTCII
                     CGILVVALPITIIFNKFSKYYQKQKDIDVDQCSEDAPEKCHELPYFNIRDIYAQRMHT
                     FITSLSSVGIVVSDPDSTDASSIEDNEDICNTTSLENCTAK"
     regulatory      2317..2322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /note="hexamer: AATAAA"
     polyA_site      2341
                     /gene="KCNS3"
                     /gene_synonym="KV9.3"
                     /note="major polyA site"
ORIGIN      
        1 agaccggccg acgcgggcca ccccgctctc ctcgccgccg cggcggcagg cgcggggccg
       61 cgccgcgagg cctgatccct gcagcgcggg caggcggcgt cgcagagcgg agctagctgg
      121 atgcgtccgg actcctgcag gtgagagtga ttttccagtg attgctttgg cctgtacaac
      181 cagagaacag gattcttccc ttctttttgg ccaccaaatg cctatgtgca ccacacattc
      241 cagtgtgctg agaagggcag agcttcttgg atgatgatgg acgtcccacc gggcaggatg
      301 aaggcagagc gtgtggcatc tccacctcaa gggtgcagcc tgatcttcct cttctccctt
      361 gccagccagc actctgcctt ctgtatccac catggtgttt ggtgagtttt tccatcgccc
      421 tggacaagac gaggaacttg tcaacctgaa tgtggggggc tttaagcagt ctgttgacca
      481 aagcaccctc ctgcggtttc ctcacaccag actggggaag ctgcttactt gccattctga
      541 agaggccatt ctggagctgt gtgatgatta cagtgtggcc gataaggagt actactttga
      601 tcggaatccc tccttgttca gatatgtttt gaatttttat tacacgggga agctgcatgt
      661 catggaggag ctgtgcgtat tctcattctg ccaggagatc gagtactggg gcatcaacga
      721 gctcttcatt gattcttgct gcagcaatcg ctaccaggaa cgcaaggagg aaaaccacga
      781 gaaggactgg gaccagaaaa gccatgatgt gagtaccgac tcctcgtttg aagagtcgtc
      841 tctgtttgag aaagagctgg agaagtttga cacactgcga tttggtcagc tccggaagaa
      901 aatctggatt agaatggaga atccagcgta ctgcctgtcc gctaagctta tcgctatctc
      961 ctccttgagc gtggtgctgg cctccatcgt ggccatgtgc gttcacagca tgtcggagtt
     1021 ccagaatgag gatggagaag tggatgatcc ggtgctggaa ggagtggaga tcgcgtgcat
     1081 tgcctggttc accggggagc ttgccgtccg gctggctgcc gctccttgtc aaaagaaatt
     1141 ctggaaaaac cctctgaaca tcattgactt tgtctctatt attcccttct atgccacgtt
     1201 ggctgtagac accaaggagg aagagagtga ggatattgag aacatgggca aggtggtcca
     1261 gatcctacgg cttatgagga ttttccgaat tctaaagctt gcccggcact cggtaggact
     1321 tcggtctcta ggtgccacac tgagacacag ctaccatgaa gttgggcttc tgcttctctt
     1381 cctctctgtg ggcatttcca ttttctctgt gcttatctac tccgtggaga aagatgacca
     1441 cacatccagc ctcaccagca tccccatctg ctggtggtgg gccaccatca gcatgacaac
     1501 tgtgggctat ggagacaccc acccggtcac cttggcggga aagctcatcg ccagcacatg
     1561 catcatctgt ggcatcttgg tggtggccct tcccatcacc atcatcttca acaagttttc
     1621 caagtactac cagaagcaaa aggacattga tgtggaccag tgcagtgagg atgcaccaga
     1681 gaagtgtcat gagctacctt actttaacat tagggatata tatgcacagc ggatgcacac
     1741 cttcattacc agtctctctt ctgtaggcat tgtggtgagc gatcctgact ccacagatgc
     1801 ttcaagcatt gaagacaatg aggacatttg taacaccacc tccttggaga attgcacagc
     1861 aaaatgagcg ggggtgtttg tgcctgtttc tcttatcctt tcccgacatt aggttaacac
     1921 agctttataa acctcagtgg gttcgttaaa atcatttaat tctcagggtg tacctttcag
     1981 ccatagttgg acattcattg ctgaattctg aaatgataga attgtcttta tttttctctg
     2041 tgaggtcaat taaatgcctt gttctgaaat ttatttttta caagagagag ttgtgatata
     2101 gtttggaata taagataaat ggtattgggt ggggtttgtg gctacagctt atgcatcatt
     2161 ctgtgtttgt catttactca cattgagcta actttaaatt actgacaagt agaatcaaag
     2221 gtgcagctga ctgagacgac atgcatgtaa gatccacaaa atgagacaat gcatgtaaat
     2281 ccatgctcat gttctaaaca tggaaactag gagcctaata aacttcctaa ttcagtatgg
     2341 a
//
