LOCUS       NP_940905               1135 aa            linear   PRI 10-FEB-2025
DEFINITION  potassium channel subfamily T member 2 isoform 1 [Homo sapiens].
ACCESSION   NP_940905 XP_291574
VERSION     NP_940905.2
DBSOURCE    REFSEQ: accession NM_198503.5
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  (residues 1 to 1135)
  AUTHORS   Cioclu,M.C., Mosca,I., Ambrosino,P., Puzo,D., Bayat,A.,
            Wortmann,S.B., Koch,J., Strehlow,V., Shirai,K., Matsumoto,N.,
            Sanders,S.J., Michaud,V., Legendre,M., Riva,A., Striano,P.,
            Muhle,H., Pendziwiat,M., Lesca,G., Mangano,G.D., Nardello,R.,
            Lemke,J.R., Moller,R.S., Soldovieri,M.V., Rubboli,G. and
            Taglialatela,M.
  CONSRTM   KCNT2-study group
  TITLE     KCNT2-Related Disorders: Phenotypes, Functional, and
            Pharmacological Properties
  JOURNAL   Ann Neurol 94 (2), 332-349 (2023)
   PUBMED   37062836
  REMARK    GeneRIF: KCNT2-Related Disorders: Phenotypes, Functional, and
            Pharmacological Properties.
REFERENCE   2  (residues 1 to 1135)
  AUTHORS   Jackson,A., Banka,S., Stewart,H., Robinson,H., Lovell,S. and
            Clayton-Smith,J.
  CONSRTM   Genomics England Research Consortium
  TITLE     Recurrent KCNT2 missense variants affecting p.Arg190 result in a
            recognizable phenotype
  JOURNAL   Am J Med Genet A 185 (10), 3083-3091 (2021)
   PUBMED   34061450
  REMARK    GeneRIF: Recurrent KCNT2 missense variants affecting p.Arg190
            result in a recognizable phenotype.
REFERENCE   3  (residues 1 to 1135)
  AUTHORS   Alagoz,M., Kherad,N., Bozkurt,S. and Yuksel,A.
  TITLE     New mutations in KCNT2 gene causing early infantile epileptic
            encephalopathy type 57: Case study and literature review
  JOURNAL   Acta Biochim Pol 67 (3), 431-434 (2020)
   PUBMED   32931186
  REMARK    GeneRIF: New mutations in KCNT2 gene causing early infantile
            epileptic encephalopathy type 57: Case study and literature review.
            Review article
REFERENCE   4  (residues 1 to 1135)
  AUTHORS   Liu,B., Ye,B., Zhu,X., Yang,L., Li,H., Liu,N., Zhu,P., Lu,T.,
            He,L., Tian,Y. and Fan,Z.
  TITLE     An inducible circular RNA circKcnt2 inhibits ILC3 activation to
            facilitate colitis resolution
  JOURNAL   Nat Commun 11 (1), 4076 (2020)
   PUBMED   32796851
  REMARK    GeneRIF: An inducible circular RNA circKcnt2 inhibits ILC3
            activation to facilitate colitis resolution.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1135)
  AUTHORS   Amador-Munoz,D., Gutierrez,A.M., Payan-Gomez,C. and Matheus,L.M.
  TITLE     In silico and in vitro analysis of cation-activated potassium
            channels in human corneal endothelial cells
  JOURNAL   Exp Eye Res 197, 108114 (2020)
   PUBMED   32561484
  REMARK    GeneRIF: In silico and in vitro analysis of cation-activated
            potassium channels in human corneal endothelial cells.
            Erratum:[Exp Eye Res. 2021 Oct;211:108757. doi:
            10.1016/j.exer.2021.108757.. PMID: 34507812]
REFERENCE   6  (residues 1 to 1135)
  AUTHORS   Tejada,M.A., Stople,K., Hammami Bomholtz,S., Meinild,A.K.,
            Poulsen,A.N. and Klaerke,D.A.
  TITLE     Cell volume changes regulate slick (Slo2.1), but not slack (Slo2.2)
            K+ channels
  JOURNAL   PLoS One 9 (10), e110833 (2014)
   PUBMED   25347289
  REMARK    GeneRIF: Slick channels, in contrast to the similar Slack channels,
            are the only high-conductance K+ channels strongly sensitive to
            small changes in cell volume.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1135)
  AUTHORS   Garg,P., Gardner,A., Garg,V. and Sanguinetti,M.C.
  TITLE     Structural basis of ion permeation gating in Slo2.1 K+ channels
  JOURNAL   J Gen Physiol 142 (5), 523-542 (2013)
   PUBMED   24166878
  REMARK    GeneRIF: Together these findings suggest that (1) the selectivity
            filter and not the bundle crossing gates ion permeation and (2)
            dynamic coupling between the pore helix and the S5 and S6 segments
            mediates Slo2.1 channel activation.
REFERENCE   8  (residues 1 to 1135)
  AUTHORS   Santi,C.M., Ferreira,G., Yang,B., Gazula,V.R., Butler,A., Wei,A.,
            Kaczmarek,L.K. and Salkoff,L.
  TITLE     Opposite regulation of Slick and Slack K+ channels by
            neuromodulators
  JOURNAL   J Neurosci 26 (19), 5059-5068 (2006)
   PUBMED   16687497
REFERENCE   9  (residues 1 to 1135)
  AUTHORS   Wei,A.D., Gutman,G.A., Aldrich,R., Chandy,K.G., Grissmer,S. and
            Wulff,H.
  TITLE     International Union of Pharmacology. LII. Nomenclature and
            molecular relationships of calcium-activated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 463-472 (2005)
   PUBMED   16382103
  REMARK    Review article
REFERENCE   10 (residues 1 to 1135)
  AUTHORS   Bhattacharjee,A., Joiner,W.J., Wu,M., Yang,Y., Sigworth,F.J. and
            Kaczmarek,L.K.
  TITLE     Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel
            inhibited by ATP
  JOURNAL   J Neurosci 23 (37), 11681-11691 (2003)
   PUBMED   14684870
  REMARK    GeneRIF: Cloning and regulation of slick channel activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB071968.1, AY359444.1 and AL139137.15.
            
            On or before Feb 2, 2004 this sequence version replaced
            XP_291574.3, NP_940905.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AY359444.1, EU251076.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294725.14/ ENSP00000294725.8
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     Protein         1..1135
                     /product="potassium channel subfamily T member 2 isoform
                     1"
                     /note="sodium-and chloride-activated ATP-sensitive
                     potassium channel (SLICK); sequence like an intermediate
                     conductance potassium channel subunit; sodium and
                     chloride-activated ATP-sensitive potassium channel Slo2.1;
                     potassium channel, subfamily T, member 2"
                     /calculated_mol_wt=130371
     Region          63..270
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            64..84
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Site            99
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Site            165..185
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Region          206..272
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:462301"
     Site            257..277
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Region          432..526
                     /region_name="BK_channel_a"
                     /note="Calcium-activated BK potassium channel alpha
                     subunit; pfam03493"
                     /db_xref="CDD:460947"
     Region          977..1010
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Region          1017..1036
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     Region          1113..1135
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UVM3.1)"
     CDS             1..1135
                     /gene="KCNT2"
                     /gene_synonym="DEE57; EIEE57; KCa4.2; KNa1.2; SLICK;
                     SLO2.1"
                     /coded_by="NM_198503.5:132..3539"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1384.1"
                     /db_xref="GeneID:343450"
                     /db_xref="HGNC:HGNC:18866"
                     /db_xref="MIM:610044"
ORIGIN      
        1 mvdlesevpp lppryrfrdl llgdqgwqnd drvqvefymn entfkerlkl ffiknqrssl
       61 rirlfnfslk llscllyiir vllenpsqgn ewshifwvnr slplwglqvs valislfeti
      121 llgylsykgn iweqilripf ileiinavpf iisifwpslr nlfvpvflnc wlakhalenm
      181 indlhraiqr tqsamfnqvl ilistllcli ftcicgiqhl erigkklnlf dslyfcivtf
      241 stvgfgdvtp etwssklfvv amicvalvvl piqfeqlayl wmerqksggn ysrhraqtek
      301 hvvlcvsslk idllmdflne fyahprlqdy yvvilcptem dvqvrrvlqi pmwsqrviyl
      361 qgsalkdqdl lrakmddaea cfilssrcev drtssdhqti lrawavkdfa pncplyvqil
      421 kpenkfhikf adhvvceeef kyamlalnci cpatstlitl lvhtsrgqeg qqspeqwqkm
      481 ygrcsgnevy hivleestff aeyegksfty asfhahkkfg vcligvrred nknillnpgp
      541 ryimnstdic fyinitkeen safknqdqqr ksnvsrsfyh gpsrlpvhsi iasmgtvaid
      601 lqdtscrsas gptlslpteg skeirrpsia pvlevadtss iqtcdllsdq sedettpdee
      661 mssnleyakg yppyspyigs sptfchllhe kvpfcclrld kscqhnyyed akaygfknkl
      721 iivaaetagn glynfivplr ayyrpkkeln pivllldnpp dmhfldaicw fpmvyymvgs
      781 idnlddllrc gvtfaanmvv vdkestmsae edymadakti vnvqtlfrlf sslsiitelt
      841 hpanmrfmqf rakdcyslal sklekkerer gsnlafmfrl pfaagrvfsi smldtllyqs
      901 fvkdymisit rlllgldttp gsgflcsmki taddlwirty arlyqklcss tgdvpigiyr
      961 tesqklttse sqisisveew edtkdskeqg hhrsnhrnst ssdqsdhpll rrksmqwarr
     1021 lsrkgpkhsg ktaekitqqr lnlyrrserq elaelvknrm khlglstvgy demndhqstl
     1081 syilinpspd trielndvvy lirpdplayl pnsepsrrns icnvtgqdsr eetql
//
