UniProtKB - Q6UVM3 (KCNT2_HUMAN)
Protein
Potassium channel subfamily T member 2
Gene
KCNT2
Organism
Homo sapiens (Human)
Status
Functioni
Outward rectifying potassium channel. Produces rapidly activating outward rectifier K+ currents. Activated by high intracellular sodium and chloride levels (PubMed:14684870, PubMed:16687497, PubMed:29069600). Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (PubMed:16687497) (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRM1 (PubMed:16687497).By similarity3 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 1025 – 1032 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- chloride-activated potassium channel activity Source: UniProtKB
- intracellular sodium activated potassium channel activity Source: GO_Central
- outward rectifier potassium channel activity Source: GO_Central
GO - Biological processi
- potassium ion export across plasma membrane Source: UniProtKB
Keywordsi
Molecular function | Ion channel, Potassium channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | ATP-binding, Nucleotide-binding, Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q6UVM3 |
Protein family/group databases
TCDBi | 1.A.1.3.6, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium channel subfamily T member 2Alternative name(s): Sequence like an intermediate conductance potassium channel subunit Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1 |
Gene namesi | Name:KCNT2 Synonyms:SLICK |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18866, KCNT2 |
MIMi | 610044, gene |
neXtProti | NX_Q6UVM3 |
VEuPathDBi | HostDB:ENSG00000162687.16 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 63 | CytoplasmicSequence analysisAdd BLAST | 63 | |
Transmembranei | 64 – 84 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 85 – 101 | ExtracellularSequence analysisAdd BLAST | 17 | |
Transmembranei | 102 – 122 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 123 – 137 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 138 – 158 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 159 – 164 | ExtracellularSequence analysis | 6 | |
Transmembranei | 165 – 185 | Helical; Name=Segment S4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 186 – 198 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 199 – 219 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 220 – 228 | ExtracellularSequence analysis | 9 | |
Intramembranei | 229 – 249 | Pore-formingSequence analysisAdd BLAST | 21 | |
Topological domaini | 250 – 256 | ExtracellularSequence analysis | 7 | |
Transmembranei | 257 – 277 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 278 – 1135 | CytoplasmicSequence analysisAdd BLAST | 858 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 57 (EIEE57)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE57 is an autosomal dominant condition.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080867 | 240 | F → L in EIEE57; decreased protein abundance; loss of chloride-activated potassium channel activity; loss of potassium selectivity. 1 PublicationCorresponds to variant dbSNP:rs1060499537EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 343450 |
MalaCardsi | KCNT2 |
MIMi | 617771, phenotype |
OpenTargetsi | ENSG00000162687 |
PharmGKBi | PA38726 |
Miscellaneous databases
Pharosi | Q6UVM3, Tchem |
Chemistry databases
DrugCentrali | Q6UVM3 |
GuidetoPHARMACOLOGYi | 386 |
Genetic variation databases
BioMutai | KCNT2 |
DMDMi | 74749370 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312503 | 1 – 1135 | Potassium channel subfamily T member 2Add BLAST | 1135 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 99 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain inhibits channel activity.1 Publication
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q6UVM3 |
MassIVEi | Q6UVM3 |
PaxDbi | Q6UVM3 |
PeptideAtlasi | Q6UVM3 |
PRIDEi | Q6UVM3 |
ProteomicsDBi | 67432 [Q6UVM3-1] 67433 [Q6UVM3-2] 67434 [Q6UVM3-3] 67435 [Q6UVM3-4] |
PTM databases
GlyGeni | Q6UVM3, 1 site |
iPTMneti | Q6UVM3 |
PhosphoSitePlusi | Q6UVM3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000162687, Expressed in parietal pleura and 166 other tissues |
ExpressionAtlasi | Q6UVM3, baseline and differential |
Genevisiblei | Q6UVM3, HS |
Organism-specific databases
HPAi | ENSG00000162687, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 131252, 12 interactors |
IntActi | Q6UVM3, 8 interactors |
STRINGi | 9606.ENSP00000294725 |
Miscellaneous databases
RNActi | Q6UVM3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 422 – 543 | RCK N-terminalAdd BLAST | 122 |
Sequence similaritiesi
Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3193, Eukaryota |
GeneTreei | ENSGT00940000158746 |
HOGENOMi | CLU_003370_0_0_1 |
InParanoidi | Q6UVM3 |
OMAi | ATCYGCK |
OrthoDBi | 858812at2759 |
PhylomeDBi | Q6UVM3 |
TreeFami | TF314283 |
Family and domain databases
InterProi | View protein in InterPro IPR003929, K_chnl_BK_asu IPR013099, K_chnl_dom IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF03493, BK_channel_a, 1 hit PF07885, Ion_trans_2, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6UVM3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVDLESEVPP LPPRYRFRDL LLGDQGWQND DRVQVEFYMN ENTFKERLKL
60 70 80 90 100
FFIKNQRSSL RIRLFNFSLK LLSCLLYIIR VLLENPSQGN EWSHIFWVNR
110 120 130 140 150
SLPLWGLQVS VALISLFETI LLGYLSYKGN IWEQILRIPF ILEIINAVPF
160 170 180 190 200
IISIFWPSLR NLFVPVFLNC WLAKHALENM INDLHRAIQR TQSAMFNQVL
210 220 230 240 250
ILISTLLCLI FTCICGIQHL ERIGKKLNLF DSLYFCIVTF STVGFGDVTP
260 270 280 290 300
ETWSSKLFVV AMICVALVVL PIQFEQLAYL WMERQKSGGN YSRHRAQTEK
310 320 330 340 350
HVVLCVSSLK IDLLMDFLNE FYAHPRLQDY YVVILCPTEM DVQVRRVLQI
360 370 380 390 400
PMWSQRVIYL QGSALKDQDL LRAKMDDAEA CFILSSRCEV DRTSSDHQTI
410 420 430 440 450
LRAWAVKDFA PNCPLYVQIL KPENKFHIKF ADHVVCEEEF KYAMLALNCI
460 470 480 490 500
CPATSTLITL LVHTSRGQEG QQSPEQWQKM YGRCSGNEVY HIVLEESTFF
510 520 530 540 550
AEYEGKSFTY ASFHAHKKFG VCLIGVRRED NKNILLNPGP RYIMNSTDIC
560 570 580 590 600
FYINITKEEN SAFKNQDQQR KSNVSRSFYH GPSRLPVHSI IASMGTVAID
610 620 630 640 650
LQDTSCRSAS GPTLSLPTEG SKEIRRPSIA PVLEVADTSS IQTCDLLSDQ
660 670 680 690 700
SEDETTPDEE MSSNLEYAKG YPPYSPYIGS SPTFCHLLHE KVPFCCLRLD
710 720 730 740 750
KSCQHNYYED AKAYGFKNKL IIVAAETAGN GLYNFIVPLR AYYRPKKELN
760 770 780 790 800
PIVLLLDNPP DMHFLDAICW FPMVYYMVGS IDNLDDLLRC GVTFAANMVV
810 820 830 840 850
VDKESTMSAE EDYMADAKTI VNVQTLFRLF SSLSIITELT HPANMRFMQF
860 870 880 890 900
RAKDCYSLAL SKLEKKERER GSNLAFMFRL PFAAGRVFSI SMLDTLLYQS
910 920 930 940 950
FVKDYMISIT RLLLGLDTTP GSGFLCSMKI TADDLWIRTY ARLYQKLCSS
960 970 980 990 1000
TGDVPIGIYR TESQKLTTSE SQISISVEEW EDTKDSKEQG HHRSNHRNST
1010 1020 1030 1040 1050
SSDQSDHPLL RRKSMQWARR LSRKGPKHSG KTAEKITQQR LNLYRRSERQ
1060 1070 1080 1090 1100
ELAELVKNRM KHLGLSTVGY DEMNDHQSTL SYILINPSPD TRIELNDVVY
1110 1120 1130
LIRPDPLAYL PNSEPSRRNS ICNVTGQDSR EETQL
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IRL4 | A0A3B3IRL4_HUMAN | Potassium channel subfamily T membe... | KCNT2 | 771 | Annotation score: | ||
Q3SY61 | Q3SY61_HUMAN | KCNT2 protein | KCNT2 | 370 | Annotation score: | ||
V9GZ63 | V9GZ63_HUMAN | Potassium channel subfamily T membe... | KCNT2 | 169 | Annotation score: | ||
A0A669KBD9 | A0A669KBD9_HUMAN | Potassium channel subfamily T membe... | KCNT2 | 54 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037527 | 33 | V → I in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_080867 | 240 | F → L in EIEE57; decreased protein abundance; loss of chloride-activated potassium channel activity; loss of potassium selectivity. 1 PublicationCorresponds to variant dbSNP:rs1060499537EnsemblClinVar. | 1 | |
Natural variantiVAR_037528 | 413 | C → W. Corresponds to variant dbSNP:rs12738104Ensembl. | 1 | |
Natural variantiVAR_037529 | 429 | K → N. Corresponds to variant dbSNP:rs12742082Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029852 | 129 – 153 | Missing in isoform 4. 2 PublicationsAdd BLAST | 25 | |
Alternative sequenceiVSP_029853 | 468 | Q → QCVCLCCR in isoform 4. 2 Publications | 1 | |
Alternative sequenceiVSP_029854 | 469 – 518 | Missing in isoform 3. CuratedAdd BLAST | 50 | |
Alternative sequenceiVSP_029855 | 760 – 783 | Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST | 24 | |
Alternative sequenceiVSP_029856 | 970 | E → ESRKIASQ in isoform 3 and isoform 4. 2 Publications | 1 | |
Alternative sequenceiVSP_029857 | 1071 – 1135 | DEMND…EETQL → GMLFKNYCIYGLVISCH in isoform 4. 2 PublicationsAdd BLAST | 65 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY359444 mRNA Translation: AAR06170.1 AK131498 mRNA Translation: BAD18642.1 BX647852 mRNA Translation: CAI46099.1 AL138931 Genomic DNA No translation available. AL139137 Genomic DNA No translation available. AL358853 Genomic DNA No translation available. AL591604 Genomic DNA No translation available. BC103948 mRNA Translation: AAI03949.1 BC103949 mRNA Translation: AAI03950.1 BC103950 mRNA Translation: AAI03951.1 |
CCDSi | CCDS1384.1 [Q6UVM3-1] CCDS72994.1 [Q6UVM3-3] CCDS72995.1 [Q6UVM3-2] |
RefSeqi | NP_001274748.1, NM_001287819.1 [Q6UVM3-2] NP_001274749.1, NM_001287820.1 [Q6UVM3-3] NP_940905.2, NM_198503.3 [Q6UVM3-1] |
Genome annotation databases
Ensembli | ENST00000294725; ENSP00000294725; ENSG00000162687 [Q6UVM3-1] ENST00000367433; ENSP00000356403; ENSG00000162687 [Q6UVM3-2] ENST00000609185; ENSP00000476657; ENSG00000162687 [Q6UVM3-3] |
GeneIDi | 343450 |
KEGGi | hsa:343450 |
UCSCi | uc001gtd.3, human [Q6UVM3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY359444 mRNA Translation: AAR06170.1 AK131498 mRNA Translation: BAD18642.1 BX647852 mRNA Translation: CAI46099.1 AL138931 Genomic DNA No translation available. AL139137 Genomic DNA No translation available. AL358853 Genomic DNA No translation available. AL591604 Genomic DNA No translation available. BC103948 mRNA Translation: AAI03949.1 BC103949 mRNA Translation: AAI03950.1 BC103950 mRNA Translation: AAI03951.1 |
CCDSi | CCDS1384.1 [Q6UVM3-1] CCDS72994.1 [Q6UVM3-3] CCDS72995.1 [Q6UVM3-2] |
RefSeqi | NP_001274748.1, NM_001287819.1 [Q6UVM3-2] NP_001274749.1, NM_001287820.1 [Q6UVM3-3] NP_940905.2, NM_198503.3 [Q6UVM3-1] |
3D structure databases
SMRi | Q6UVM3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 131252, 12 interactors |
IntActi | Q6UVM3, 8 interactors |
STRINGi | 9606.ENSP00000294725 |
Chemistry databases
DrugCentrali | Q6UVM3 |
GuidetoPHARMACOLOGYi | 386 |
Protein family/group databases
TCDBi | 1.A.1.3.6, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | Q6UVM3, 1 site |
iPTMneti | Q6UVM3 |
PhosphoSitePlusi | Q6UVM3 |
Genetic variation databases
BioMutai | KCNT2 |
DMDMi | 74749370 |
Proteomic databases
jPOSTi | Q6UVM3 |
MassIVEi | Q6UVM3 |
PaxDbi | Q6UVM3 |
PeptideAtlasi | Q6UVM3 |
PRIDEi | Q6UVM3 |
ProteomicsDBi | 67432 [Q6UVM3-1] 67433 [Q6UVM3-2] 67434 [Q6UVM3-3] 67435 [Q6UVM3-4] |
Protocols and materials databases
Antibodypediai | 34469, 186 antibodies |
Genome annotation databases
Ensembli | ENST00000294725; ENSP00000294725; ENSG00000162687 [Q6UVM3-1] ENST00000367433; ENSP00000356403; ENSG00000162687 [Q6UVM3-2] ENST00000609185; ENSP00000476657; ENSG00000162687 [Q6UVM3-3] |
GeneIDi | 343450 |
KEGGi | hsa:343450 |
UCSCi | uc001gtd.3, human [Q6UVM3-1] |
Organism-specific databases
CTDi | 343450 |
DisGeNETi | 343450 |
GeneCardsi | KCNT2 |
HGNCi | HGNC:18866, KCNT2 |
HPAi | ENSG00000162687, Low tissue specificity |
MalaCardsi | KCNT2 |
MIMi | 610044, gene 617771, phenotype |
neXtProti | NX_Q6UVM3 |
OpenTargetsi | ENSG00000162687 |
PharmGKBi | PA38726 |
VEuPathDBi | HostDB:ENSG00000162687.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3193, Eukaryota |
GeneTreei | ENSGT00940000158746 |
HOGENOMi | CLU_003370_0_0_1 |
InParanoidi | Q6UVM3 |
OMAi | ATCYGCK |
OrthoDBi | 858812at2759 |
PhylomeDBi | Q6UVM3 |
TreeFami | TF314283 |
Enzyme and pathway databases
PathwayCommonsi | Q6UVM3 |
Miscellaneous databases
BioGRID-ORCSi | 343450, 6 hits in 870 CRISPR screens |
ChiTaRSi | KCNT2, human |
GeneWikii | KCNT2 |
GenomeRNAii | 343450 |
Pharosi | Q6UVM3, Tchem |
PROi | PR:Q6UVM3 |
RNActi | Q6UVM3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162687, Expressed in parietal pleura and 166 other tissues |
ExpressionAtlasi | Q6UVM3, baseline and differential |
Genevisiblei | Q6UVM3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003929, K_chnl_BK_asu IPR013099, K_chnl_dom IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF03493, BK_channel_a, 1 hit PF07885, Ion_trans_2, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNT2_HUMAN | |
Accessioni | Q6UVM3Primary (citable) accession number: Q6UVM3 Secondary accession number(s): Q3SY59, Q5VTN1, Q6ZMT3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | July 5, 2004 | |
Last modified: | February 10, 2021 | |
This is version 150 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants