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KCNT2 potassium sodium-activated channel subfamily T member 2 [ Homo sapiens (human) ]

Gene ID: 343450, updated on 23-Nov-2021

Summary

Official Symbol
KCNT2provided by HGNC
Official Full Name
potassium sodium-activated channel subfamily T member 2provided by HGNC
Primary source
HGNC:HGNC:18866
See related
Ensembl:ENSG00000162687 MIM:610044
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE57; SLICK; EIEE57; KCa4.2; SLO2.1
Expression
Broad expression in ovary (RPKM 1.6), lung (RPKM 0.9) and 22 other tissues See more
Orthologs
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Genomic context

See KCNT2 in Genome Data Viewer
Location:
1q31.3
Exon count:
35
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196225779..196608560, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196194909..196577570, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1724 Neighboring gene uncharacterized LOC105371674 Neighboring gene microRNA 4735 Neighboring gene complement factor H Neighboring gene complement factor H related 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 57
MedGen: C4540411 OMIM: 617771 GeneReviews: Not available
Compare labs
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119610, MGC119611, MGC119612, MGC119613, RP11-58O13.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables chloride-activated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables intracellular sodium activated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables outward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in potassium ion export across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium channel subfamily T member 2
Names
potassium channel, subfamily T, member 2
sequence like an intermediate conductance potassium channel subunit
sodium and chloride-activated ATP-sensitive potassium channel Slo2.1
sodium-and chloride-activated ATP-sensitive potassium channel (SLICK)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001287819.3NP_001274748.1  potassium channel subfamily T member 2 isoform 2

    See identical proteins and their annotated locations for NP_001274748.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AL139137, BC103948, DA799907, DB071968
    Consensus CDS
    CCDS72995.1
    UniProtKB/Swiss-Prot
    Q6UVM3
    Related
    ENSP00000356403.5, ENST00000367433.9
    Conserved Domains (3) summary
    pfam00520
    Location:63270
    Ion_trans; Ion transport protein
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel
  2. NM_001287820.3NP_001274749.1  potassium channel subfamily T member 2 isoform 3

    See identical proteins and their annotated locations for NP_001274749.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons and contains one alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK131498, AL139137, BC103949, DB071968
    Consensus CDS
    CCDS72994.1
    UniProtKB/Swiss-Prot
    Q6UVM3
    Related
    ENSP00000476657.1, ENST00000609185.5
    Conserved Domains (3) summary
    pfam00520
    Location:63270
    Ion_trans; Ion transport protein
    pfam03493
    Location:431468
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel
  3. NM_198503.5NP_940905.2  potassium channel subfamily T member 2 isoform 1

    See identical proteins and their annotated locations for NP_940905.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL139137, AY359444, DB071968
    Consensus CDS
    CCDS1384.1
    UniProtKB/Swiss-Prot
    Q6UVM3
    UniProtKB/TrEMBL
    A9LNM6
    Related
    ENSP00000294725.8, ENST00000294725.14
    Conserved Domains (3) summary
    pfam00520
    Location:63270
    Ion_trans; Ion transport protein
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel

RNA

  1. NR_146057.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL138931, AL139137, AL358853, AL591604
  2. NR_146058.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL138931, AL139137, AL358853, AL591604

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    196225779..196608560 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711295.3XP_006711358.1  potassium channel subfamily T member 2 isoform X2

    See identical proteins and their annotated locations for XP_006711358.1

    Conserved Domains (3) summary
    pfam00520
    Location:63270
    Ion_trans; Ion transport protein
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel
  2. XM_006711294.3XP_006711357.1  potassium channel subfamily T member 2 isoform X1

    See identical proteins and their annotated locations for XP_006711357.1

    Conserved Domains (2) summary
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel
  3. XM_024446697.1XP_024302465.1  potassium channel subfamily T member 2 isoform X7

    Related
    ENST00000498426.5
    Conserved Domains (1) summary
    pfam03493
    Location:247
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
  4. XM_017001181.1XP_016856670.1  potassium channel subfamily T member 2 isoform X6

  5. XM_017001183.1XP_016856672.1  potassium channel subfamily T member 2 isoform X7

    Conserved Domains (1) summary
    pfam03493
    Location:247
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
  6. XM_017001185.2XP_016856674.1  potassium channel subfamily T member 2 isoform X8

    Conserved Domains (2) summary
    pfam03493
    Location:406501
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:201247
    Ion_trans_2; Ion channel
  7. XM_017001179.2XP_016856668.1  potassium channel subfamily T member 2 isoform X3

  8. XM_011509483.3XP_011507785.1  potassium channel subfamily T member 2 isoform X5

    Conserved Domains (2) summary
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel
  9. XM_017001180.2XP_016856669.1  potassium channel subfamily T member 2 isoform X4

    Related
    ENSP00000496885.1, ENST00000647658.1
    Conserved Domains (3) summary
    pfam00520
    Location:63270
    Ion_trans; Ion transport protein
    pfam03493
    Location:431526
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:226272
    Ion_trans_2; Ion channel

RNA

  1. XR_001737149.2 RNA Sequence

  2. XR_921774.3 RNA Sequence

  3. XR_001737151.2 RNA Sequence

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