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Aliases for KCNT2 Gene

Aliases for KCNT2 Gene

  • Potassium Sodium-Activated Channel Subfamily T Member 2 2 3 5
  • Sodium And Chloride-Activated ATP-Sensitive Potassium Channel Slo2.1 3 4
  • Sequence Like An Intermediate Conductance Potassium Channel Subunit 3 4
  • Potassium Channel, Subfamily T, Member 2 2 3
  • SLICK 3 4
  • Sodium-And Chloride-Activated ATP-Sensitive Potassium Channel (SLICK) 3
  • Sodium And Chloride Activated ATP Sensitive Potassium Channel 2
  • Potassium Channel, Sodium Activated Subfamily T, Member 2 2
  • Potassium Channel Subfamily T Member 2 3
  • EIEE57 3
  • KCa4.2 3
  • SLO2.1 3

External Ids for KCNT2 Gene

Previous GeneCards Identifiers for KCNT2 Gene

  • GC01M193941
  • GC01U900041
  • GC01M192927
  • GC01M194461
  • GC01M167436

Summaries for KCNT2 Gene

GeneCards Summary for KCNT2 Gene

KCNT2 (Potassium Sodium-Activated Channel Subfamily T Member 2) is a Protein Coding gene. Diseases associated with KCNT2 include Epileptic Encephalopathy, Early Infantile, 57. Among its related pathways are Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include voltage-gated potassium channel activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNT1.

UniProtKB/Swiss-Prot for KCNT2 Gene

  • Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1.

Tocris Summary for KCNT2 Gene

  • Calcium (Ca2+) -activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes: SK, IK and BK channels (small, intermediate and big conductance).

Gene Wiki entry for KCNT2 Gene

Additional gene information for KCNT2 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNT2 Gene

Genomics for KCNT2 Gene

GeneHancer (GH) Regulatory Elements for KCNT2 Gene

Promoters and enhancers for KCNT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J196607 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.5 500 2.2 CTCF MXI1 TAF1 MAX SIN3A ZNF384 YY1 ETS1 ZNF335 CTBP1 KCNT2 GC01P196608
GH01J196660 Enhancer 0.6 Ensembl 11.2 -51.8 -51776 0.4 CTCF ZNF654 REST ELF1 RAD21 ARID2 VEZF1 SMC3 ZNF143 PRDM1 KCNT2 CFH GC01M196672
GH01J196400 Enhancer 1 Ensembl ENCODE 5.7 +208.2 208219 1.1 ELF3 FOXA2 RAD21 RARA YY1 ZNF614 EGR1 CREM MIXL1 NFKBIZ KCNT2 CFHR3 GC01M196344 GC01P196522
GH01J197469 Enhancer 0.8 Ensembl ENCODE 3.9 -860.9 -860909 0.9 ZNF189 MAX MITF RAD51 POLR2A RCOR1 CBFA2T2 MYC CHD2 ENSG00000230260 KCNT2 GC01P197674 CRB1
GH01J196410 Enhancer 0.2 FANTOM5 13 +198.6 198612 0.5 KCNT2 CFHR3 CFH GC01M196344 GC01P196522
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNT2 gene promoter:
  • c-Ets-1
  • Pbx1a
  • Tal-1beta
  • Meis-1a
  • Meis-1
  • HOXA9B
  • HOXA9
  • E47
  • TBP
  • TFIID

Genomic Locations for KCNT2 Gene

Genomic Locations for KCNT2 Gene
chr1:196,225,779-196,609,225
(GRCh38/hg38)
Size:
383,447 bases
Orientation:
Minus strand
chr1:196,194,909-196,578,355
(GRCh37/hg19)
Size:
383,447 bases
Orientation:
Minus strand

Genomic View for KCNT2 Gene

Genes around KCNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNT2 Gene

Proteins for KCNT2 Gene

  • Protein details for KCNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UVM3-KCNT2_HUMAN
    Recommended name:
    Potassium channel subfamily T member 2
    Protein Accession:
    Q6UVM3
    Secondary Accessions:
    • Q3SY59
    • Q5VTN1
    • Q6ZMT3

    Protein attributes for KCNT2 Gene

    Size:
    1135 amino acids
    Molecular mass:
    130501 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KCNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNT2 Gene

Post-translational modifications for KCNT2 Gene

  • Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain inhibits channel activity.
  • Glycosylation at Asn99
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNT2 Gene

Domains & Families for KCNT2 Gene

Gene Families for KCNT2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNT2 Gene

Suggested Antigen Peptide Sequences for KCNT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UVM3

UniProtKB/Swiss-Prot:

KCNT2_HUMAN :
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily.
Family:
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily.
genes like me logo Genes that share domains with KCNT2: view

Function for KCNT2 Gene

Molecular function for KCNT2 Gene

UniProtKB/Swiss-Prot Function:
Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1.

Phenotypes From GWAS Catalog for KCNT2 Gene

Gene Ontology (GO) - Molecular Function for KCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005228 intracellular sodium activated potassium channel activity IBA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
GO:0005524 ATP binding IEA --
GO:0015269 calcium-activated potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNT2: view
genes like me logo Genes that share phenotypes with KCNT2: view

Animal Models for KCNT2 Gene

MGI Knock Outs for KCNT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNT2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNT2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNT2 Gene

Localization for KCNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNT2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNT2 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IBA --
GO:0008076 voltage-gated potassium channel complex IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA,IEA --
genes like me logo Genes that share ontologies with KCNT2: view

Pathways & Interactions for KCNT2 Gene

genes like me logo Genes that share pathways with KCNT2: view

Interacting Proteins for KCNT2 Gene

Gene Ontology (GO) - Biological Process for KCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0042391 regulation of membrane potential IBA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNT2: view

No data available for SIGNOR curated interactions for KCNT2 Gene

Drugs & Compounds for KCNT2 Gene

(13) Drugs for KCNT2 Gene - From: PharmGKB, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
tetraethylammonium Experimental, Investigational Pharma Inhibitor, Pore Blocker, Inhibition, Antagonist 1
Ba<sup>2+</sup> Pharma Pore Blocker, Antagonist, Inhibition 0
Charybdotoxin Pharma Pore Blocker, Inhibitor, Inhibition, blocker 0
Iberiotoxin Pharma Inhibitor 0

(2) Additional Compounds for KCNT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for KCNT2 Gene

Compound Action Cas Number
1-EBIO Activator of epithelial KCa channels 10045-45-1
BMS 191011 Potent BKCa (KCa1.1) channel opener 202821-81-6
CyPPA Activator of KCa2.2 and KCa2.3 channels 73029-73-9
SKA 31 Activator of KCa3.1 and KCa2 channels 40172-65-4
genes like me logo Genes that share compounds with KCNT2: view

Transcripts for KCNT2 Gene

Unigene Clusters for KCNT2 Gene

Potassium channel, subfamily T, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNT2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -
SP2: -

ExUns: 27 ^ 28a · 28b
SP1:
SP2:

Relevant External Links for KCNT2 Gene

GeneLoc Exon Structure for
KCNT2
ECgene alternative splicing isoforms for
KCNT2

Expression for KCNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNT2 Gene

This gene is overexpressed in Artery - Coronary (x4.1).

Protein differential expression in normal tissues from HIPED for KCNT2 Gene

This gene is overexpressed in Skin (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNT2 Gene



Protein tissue co-expression partners for KCNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNT2 Gene:

KCNT2

SOURCE GeneReport for Unigene cluster for KCNT2 Gene:

Hs.657046

Evidence on tissue expression from TISSUES for KCNT2 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with KCNT2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNT2 Gene

Orthologs for KCNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNT2 34 33
  • 99.82 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KCNT2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNT2 34 33
  • 94.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNT2 34 33
  • 92.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnt2 16 34 33
  • 90.46 (n)
rat
(Rattus norvegicus)
Mammalia Kcnt2 33
  • 90.43 (n)
chicken
(Gallus gallus)
Aves KCNT2 34 33
  • 83.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNT2 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnt1 33
  • 68.85 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565691 33
  • 68.67 (n)
kcnt2 34
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42732 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea slo-2 34
  • 43 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for KCNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNT2 Gene

ENSEMBL:
Gene Tree for KCNT2 (if available)
TreeFam:
Gene Tree for KCNT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNT2: view image

Paralogs for KCNT2 Gene

Paralogs for KCNT2 Gene

(1) SIMAP similar genes for KCNT2 Gene using alignment to 5 proteins:

  • KCNT2_HUMAN
  • A9LNM6_HUMAN
  • G8JLE3_HUMAN
  • Q3SY61_HUMAN
  • V9GZ63_HUMAN
genes like me logo Genes that share paralogs with KCNT2: view

Variants for KCNT2 Gene

Sequence variations from dbSNP and Humsavar for KCNT2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1060499537 pathogenic, KCNT2-related condition, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 196,429,676(-) A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_037527 A breast cancer sample p.Val33Ile
rs1000005930 -- 196,565,891(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000006988 -- 196,480,114(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000008455 -- 196,457,747(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNT2 Gene

Variant ID Type Subtype PubMed ID
esv1430984 CNV insertion 17803354
esv1933670 CNV deletion 18987734
esv2720973 CNV deletion 23290073
esv2720984 CNV deletion 23290073
esv2762213 CNV loss 21179565
esv3578348 CNV loss 25503493
esv3588460 CNV gain 21293372
esv3588462 CNV loss 21293372
esv3588464 CNV loss 21293372
esv3588465 CNV loss 21293372
nsv1112558 CNV deletion 24896259
nsv469680 CNV gain 16826518
nsv477253 CNV novel sequence insertion 20440878
nsv477628 CNV novel sequence insertion 20440878
nsv508685 CNV deletion 20534489
nsv528460 CNV gain 19592680
nsv548741 CNV loss 21841781
nsv548742 CNV loss 21841781
nsv832237 CNV gain 17160897

Variation tolerance for KCNT2 Gene

Residual Variation Intolerance Score: 1.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNT2 Gene

Human Gene Mutation Database (HGMD)
KCNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNT2 Gene

Disorders for KCNT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNT2 Gene - From: HGMD, OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 57
  • eiee57
- elite association - COSMIC cancer census association via MalaCards
Search KCNT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCNT2

genes like me logo Genes that share disorders with KCNT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNT2 Gene

Publications for KCNT2 Gene

  1. Opposite regulation of Slick and Slack K+ channels by neuromodulators. (PMID: 16687497) Santi CM … Salkoff L (The Journal of neuroscience : the official journal of the Society for Neuroscience 2006) 3 4 22 58
  2. Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. (PMID: 14684870) Bhattacharjee A … Kaczmarek LK (The Journal of neuroscience : the official journal of the Society for Neuroscience 2003) 3 4 22 58
  3. International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. (PMID: 16382103) Wei AD … Wulff H (Pharmacological reviews 2005) 2 3 58
  4. Molecular mechanisms of Slo2 K+ channel closure. (PMID: 27682982) Giese MH … Sanguinetti MC (The Journal of physiology 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for KCNT2 Gene

Sources for KCNT2 Gene

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