KCNT2 (potassium sodium-activated channel subfamily T member 2) - Rat Genome Database

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Gene: KCNT2 (potassium sodium-activated channel subfamily T member 2) Homo sapiens
Analyze
Symbol: KCNT2
Name: potassium sodium-activated channel subfamily T member 2
RGD ID: 1351112
HGNC Page HGNC:18866
Description: Enables chloride-activated potassium channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DEE57; EIEE57; KCa4.2; MGC119610; MGC119611; MGC119612; MGC119613; potassium channel subfamily T member 2; potassium channel, sodium activated subfamily T, member 2; potassium channel, subfamily T, member 2; RP11-58O13.1; sequence like an intermediate conductance potassium channel subunit; SLICK; SLO2.1; sodium activated potassium channel; sodium and chloride activated ATP sensitive potassium channel; sodium and chloride-activated ATP-sensitive potassium channel Slo2.1; sodium- and chloride-activated ATP-sensitive potassium channel; sodium-and chloride-activated ATP-sensitive potassium channel (SLICK)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,225,779 - 196,608,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1196,225,779 - 196,609,225 (-)EnsemblGRCh38hg38GRCh38
GRCh371196,194,909 - 196,577,570 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,461,536 - 194,844,122 (-)NCBINCBI36hg18NCBI36
Celera1169,303,964 - 169,686,483 (-)NCBI
Cytogenetic Map1q31.3NCBI
HuRef1167,436,578 - 167,819,452 (-)NCBIHuRef
CHM1_11197,616,644 - 197,999,107 (-)NCBICHM1_1
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14684870   PMID:16344560   PMID:16382103   PMID:16687497   PMID:21116278   PMID:21873635   PMID:23577725   PMID:24166878   PMID:25347289   PMID:25903137   PMID:26724206  
PMID:27023175   PMID:27682982   PMID:28222129   PMID:28514442   PMID:29069600   PMID:29987050   PMID:31557882   PMID:31900314   PMID:32561484   PMID:32796851   PMID:32931186   PMID:33961781  
PMID:34061450  


Genomics

Comparative Map Data
KCNT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,225,779 - 196,608,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1196,225,779 - 196,609,225 (-)EnsemblGRCh38hg38GRCh38
GRCh371196,194,909 - 196,577,570 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,461,536 - 194,844,122 (-)NCBINCBI36hg18NCBI36
Celera1169,303,964 - 169,686,483 (-)NCBI
Cytogenetic Map1q31.3NCBI
HuRef1167,436,578 - 167,819,452 (-)NCBIHuRef
CHM1_11197,616,644 - 197,999,107 (-)NCBICHM1_1
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Kcnt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391140,173,373 - 140,541,783 (+)NCBIGRCm39mm39
GRCm39 Ensembl1140,173,896 - 140,539,805 (+)Ensembl
GRCm381140,245,657 - 140,614,045 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1140,246,158 - 140,612,067 (+)EnsemblGRCm38mm10GRCm38
MGSCv371142,142,834 - 142,506,838 (+)NCBIGRCm37mm9NCBIm37
MGSCv361142,062,668 - 142,426,672 (+)NCBImm8
Celera1142,875,113 - 143,237,483 (+)NCBICelera
Cytogenetic Map1FNCBI
Kcnt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21351,664,129 - 52,059,209 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1351,664,686 - 52,056,987 (+)Ensembl
Rnor_6.01357,130,855 - 57,520,263 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1357,131,395 - 57,521,836 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01362,143,990 - 62,534,723 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41353,407,504 - 53,803,012 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11353,421,583 - 53,817,092 (+)NCBI
Celera1351,920,143 - 52,310,493 (+)NCBICelera
Cytogenetic Map13q21NCBI
Kcnt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540633,076,426 - 33,441,793 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540633,080,570 - 33,441,342 (-)NCBIChiLan1.0ChiLan1.0
KCNT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11176,001,997 - 176,391,180 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1176,003,920 - 176,390,592 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01171,722,130 - 172,112,927 (-)NCBIMhudiblu_PPA_v0panPan3
KCNT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1383,006,639 - 3,382,234 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl383,006,140 - 3,380,218 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha383,097,770 - 3,473,355 (+)NCBI
ROS_Cfam_1.0383,003,542 - 3,376,325 (+)NCBI
UMICH_Zoey_3.1382,999,648 - 3,374,824 (+)NCBI
UNSW_CanFamBas_1.0383,391,702 - 3,766,835 (+)NCBI
UU_Cfam_GSD_1.0383,591,639 - 3,964,394 (+)NCBI
Kcnt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934477,990,611 - 78,357,811 (+)NCBI
SpeTri2.0NW_0049366383,789,339 - 4,154,356 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.21023,896,301 - 24,106,816 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12532,790,439 - 33,193,936 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2532,922,277 - 33,192,820 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605533,705,790 - 34,115,831 (+)NCBIVero_WHO_p1.0
Kcnt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247983,578,706 - 3,867,854 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247983,579,528 - 3,868,717 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-33360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,381,968 - 196,382,095UniSTSGRCh37
Build 361194,648,591 - 194,648,718RGDNCBI36
Celera1169,491,052 - 169,491,179RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,623,699 - 167,623,826UniSTS
Stanford-G3 RH Map17624.0UniSTS
GeneMap99-GB4 RH Map1652.43UniSTS
GeneMap99-GB4 RH Map1652.74UniSTS
Whitehead-RH Map1810.4UniSTS
NCBI RH Map11608.0UniSTS
GeneMap99-G3 RH Map17580.0UniSTS
AL009363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,574,366 - 196,574,449UniSTSGRCh37
Build 361194,840,989 - 194,841,072RGDNCBI36
Celera1169,683,350 - 169,683,433RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,816,319 - 167,816,402UniSTS
SHGC-83801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,367,285 - 196,367,633UniSTSGRCh37
Build 361194,633,908 - 194,634,256RGDNCBI36
Celera1169,476,364 - 169,476,712RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,609,034 - 167,609,382UniSTS
TNG Radiation Hybrid Map196481.0UniSTS
RH121310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,503,669 - 196,503,978UniSTSGRCh37
Build 361194,770,292 - 194,770,601RGDNCBI36
Celera1169,612,655 - 169,612,964RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,745,667 - 167,745,976UniSTS
TNG Radiation Hybrid Map196554.0UniSTS
SHGC-132495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,381,967 - 196,382,091UniSTSGRCh37
Build 361194,648,590 - 194,648,714RGDNCBI36
Celera1169,491,051 - 169,491,175RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,623,698 - 167,623,822UniSTS
TNG Radiation Hybrid Map196501.0UniSTS
SHGC-76082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,544,369 - 196,544,555UniSTSGRCh37
Build 361194,810,992 - 194,811,178RGDNCBI36
Celera1169,653,358 - 169,653,544RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,786,371 - 167,786,557UniSTS
TNG Radiation Hybrid Map196633.0UniSTS
GeneMap99-GB4 RH Map1657.16UniSTS
NCBI RH Map11614.1UniSTS
AL009532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,447,645 - 196,447,829UniSTSGRCh37
Build 361194,714,268 - 194,714,452RGDNCBI36
Celera1169,556,627 - 169,556,811RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,689,653 - 167,689,837UniSTS
AL009592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,226,323 - 196,226,496UniSTSGRCh37
Build 361194,492,946 - 194,493,119RGDNCBI36
Celera1169,335,373 - 169,335,546RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,467,864 - 167,468,037UniSTS
SLICK__6855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,194,862 - 196,195,667UniSTSGRCh37
Build 361194,461,485 - 194,462,290RGDNCBI36
Celera1169,303,913 - 169,304,718RGD
HuRef1167,436,527 - 167,437,332UniSTS
AL009853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,281,828 - 196,281,965UniSTSGRCh37
Build 361194,548,451 - 194,548,588RGDNCBI36
Celera1169,390,914 - 169,391,051RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,523,542 - 167,523,679UniSTS
RH69668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,544,551 - 196,544,693UniSTSGRCh37
Build 361194,811,174 - 194,811,316RGDNCBI36
Celera1169,653,540 - 169,653,682RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,786,553 - 167,786,695UniSTS
GeneMap99-GB4 RH Map1657.23UniSTS
NCBI RH Map11614.1UniSTS
AL009418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,574,537 - 196,574,674UniSTSGRCh37
Build 361194,841,160 - 194,841,297RGDNCBI36
Celera1169,683,521 - 169,683,658RGD
Cytogenetic Map1q31.3UniSTS
HuRef1167,816,490 - 167,816,627UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2646
Count of miRNA genes:737
Interacting mature miRNAs:835
Transcripts:ENST00000294725, ENST00000367431, ENST00000367433, ENST00000451324, ENST00000466914, ENST00000498426, ENST00000609185, ENST00000610076
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 69 495 81 18 4 18 325 78 82 32 139 79 62 284
Low 1880 1341 1511 570 310 420 2702 955 3069 210 1048 1331 156 1081 1547 1
Below cutoff 368 778 117 27 695 18 1272 1137 568 135 195 129 13 1 61 954 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC275516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA799907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB071968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU251076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA176826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294725   ⟹   ENSP00000294725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,225,779 - 196,608,440 (-)Ensembl
RefSeq Acc Id: ENST00000367433   ⟹   ENSP00000356403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,225,779 - 196,608,411 (-)Ensembl
RefSeq Acc Id: ENST00000451324   ⟹   ENSP00000405474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,227,859 - 196,608,359 (-)Ensembl
RefSeq Acc Id: ENST00000466914   ⟹   ENSP00000477456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,340,489 - 196,428,207 (-)Ensembl
RefSeq Acc Id: ENST00000498426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,225,783 - 196,465,387 (-)Ensembl
RefSeq Acc Id: ENST00000609185   ⟹   ENSP00000476657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,227,859 - 196,608,359 (-)Ensembl
RefSeq Acc Id: ENST00000610076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,258,089 - 196,608,560 (-)Ensembl
RefSeq Acc Id: ENST00000647658   ⟹   ENSP00000496885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,225,807 - 196,608,495 (-)Ensembl
RefSeq Acc Id: ENST00000673703   ⟹   ENSP00000501240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1196,492,262 - 196,609,225 (-)Ensembl
RefSeq Acc Id: NM_001287819   ⟹   NP_001274748
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
HuRef1167,436,574 - 167,819,514 (-)NCBI
CHM1_11197,616,640 - 197,999,169 (-)NCBI
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287820   ⟹   NP_001274749
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
HuRef1167,436,574 - 167,819,514 (-)NCBI
CHM1_11197,616,640 - 197,999,169 (-)NCBI
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198503   ⟹   NP_940905
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
GRCh371196,194,913 - 196,577,690 (-)NCBI
Build 361194,461,536 - 194,844,122 (-)NCBI Archive
Celera1169,303,964 - 169,686,483 (-)RGD
HuRef1167,436,574 - 167,819,514 (-)NCBI
CHM1_11197,616,640 - 197,999,169 (-)NCBI
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146057
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146058
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
T2T-CHM13v2.01195,571,842 - 195,954,779 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711294   ⟹   XP_006711357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711295   ⟹   XP_006711358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509483   ⟹   XP_011507785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,315,934 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001179   ⟹   XP_016856668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,285,762 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001180   ⟹   XP_016856669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,316,288 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001181   ⟹   XP_016856670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,408,311 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001183   ⟹   XP_016856672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,225,779 - 196,343,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001185   ⟹   XP_016856674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,253,841 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001737149
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,280,973 - 196,608,440 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001737151
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,315,932 - 196,608,440 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_940905   ⟸   NM_198503
- Peptide Label: isoform 1
- UniProtKB: Q6UVM3 (UniProtKB/Swiss-Prot),   A9LNM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274749   ⟸   NM_001287820
- Peptide Label: isoform 3
- UniProtKB: Q6UVM3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274748   ⟸   NM_001287819
- Peptide Label: isoform 2
- UniProtKB: Q6UVM3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711358   ⟸   XM_006711295
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006711357   ⟸   XM_006711294
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507785   ⟸   XM_011509483
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016856670   ⟸   XM_017001181
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016856672   ⟸   XM_017001183
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016856674   ⟸   XM_017001185
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016856668   ⟸   XM_017001179
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016856669   ⟸   XM_017001180
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000501240   ⟸   ENST00000673703
RefSeq Acc Id: ENSP00000476657   ⟸   ENST00000609185
RefSeq Acc Id: ENSP00000405474   ⟸   ENST00000451324
RefSeq Acc Id: ENSP00000294725   ⟸   ENST00000294725
RefSeq Acc Id: ENSP00000477456   ⟸   ENST00000466914
RefSeq Acc Id: ENSP00000356403   ⟸   ENST00000367433
RefSeq Acc Id: ENSP00000496885   ⟸   ENST00000647658
Protein Domains
BK_channel_a   Ion_trans_2   RCK N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UVM3-F1-model_v2 AlphaFold Q6UVM3 1-1135 view protein structure

Promoters
RGD ID:6858450
Promoter ID:EPDNEW_H2390
Type:initiation region
Name:KCNT2_1
Description:potassium sodium-activated channel subfamily T member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,608,431 - 196,608,491EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_198503.3(KCNT2):c.3097G>A (p.Ala1033Thr) single nucleotide variant Malignant melanoma [RCV000064409] Chr1:196258308 [GRCh38]
Chr1:196227438 [GRCh37]
Chr1:194494061 [NCBI36]
Chr1:1q31.3
not provided
NM_198503.3(KCNT2):c.2984A>G (p.Asn995Ser) single nucleotide variant Malignant melanoma [RCV000064410] Chr1:196258421 [GRCh38]
Chr1:196227551 [GRCh37]
Chr1:194494174 [NCBI36]
Chr1:1q31.3
not provided
NM_198503.3(KCNT2):c.2036G>A (p.Gly679Glu) single nucleotide variant Malignant melanoma [RCV000064411] Chr1:196331223 [GRCh38]
Chr1:196300353 [GRCh37]
Chr1:194566976 [NCBI36]
Chr1:1q31.3
not provided
NM_198503.3(KCNT2):c.769C>T (p.Leu257Phe) single nucleotide variant Malignant melanoma [RCV000064412] Chr1:196429627 [GRCh38]
Chr1:196398757 [GRCh37]
Chr1:194665380 [NCBI36]
Chr1:1q31.3
not provided
NM_198503.3(KCNT2):c.285C>T (p.Ile95=) single nucleotide variant Malignant melanoma [RCV000064414] Chr1:196482370 [GRCh38]
Chr1:196451500 [GRCh37]
Chr1:194718123 [NCBI36]
Chr1:1q31.3
not provided
NM_001287819.1(KCNT2):c.2839-10782C>A single nucleotide variant Lung cancer [RCV000090319] Chr1:196269276 [GRCh38]
Chr1:196238406 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001287819.1(KCNT2):c.2276+129T>C single nucleotide variant Lung cancer [RCV000090320] Chr1:196326588 [GRCh38]
Chr1:196295718 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001287819.1(KCNT2):c.820-539C>A single nucleotide variant Lung cancer [RCV000090321] Chr1:196428808 [GRCh38]
Chr1:196397938 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001287819.1(KCNT2):c.276-424G>T single nucleotide variant Lung cancer [RCV000090322] Chr1:196482803 [GRCh38]
Chr1:196451933 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_001287819.1(KCNT2):c.276-2071T>G single nucleotide variant Lung cancer [RCV000090323] Chr1:196484450 [GRCh38]
Chr1:196453580 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q31.3(chr1:195374956-196542209)x1 copy number loss See cases [RCV000134047] Chr1:195374956..196542209 [GRCh38]
Chr1:195344086..196511339 [GRCh37]
Chr1:193610709..194777962 [NCBI36]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1
pathogenic
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 copy number loss See cases [RCV000135432] Chr1:195514309..197896494 [GRCh38]
Chr1:195483439..197865624 [GRCh37]
Chr1:193750062..196132247 [NCBI36]
Chr1:1q31.3
pathogenic
GRCh38/hg38 1q31.3(chr1:196042751-196239755)x3 copy number gain See cases [RCV000136856] Chr1:196042751..196239755 [GRCh38]
Chr1:196011881..196208885 [GRCh37]
Chr1:194278504..194475508 [NCBI36]
Chr1:1q31.3
benign
GRCh38/hg38 1q31.3(chr1:194260752-196604554)x1 copy number loss See cases [RCV000139642] Chr1:194260752..196604554 [GRCh38]
Chr1:194229882..196573684 [GRCh37]
Chr1:192496505..194840307 [NCBI36]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1 copy number loss See cases [RCV000143144] Chr1:196301629..196775650 [GRCh38]
Chr1:196270759..196744780 [GRCh37]
Chr1:194537382..195011403 [NCBI36]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1 copy number loss Ductal breast carcinoma [RCV000207061] Chr1:196608263..197002575 [GRCh38]
Chr1:196577392..196971704 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV000515540]|KCNT2-related condition [RCV000477662] Chr1:196429676 [GRCh38]
Chr1:196398806 [GRCh37]
Chr1:1q31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1 copy number loss not provided [RCV000684683] Chr1:195089818..197443021 [GRCh37]
Chr1:1q31.3
likely pathogenic
Single allele deletion Mesangiocapillary glomerulonephritis [RCV001004032] Chr1:196498350..196626665 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q31.3(chr1:196223735-196381177)x3 copy number gain not provided [RCV000736807] Chr1:196223735..196381177 [GRCh37]
Chr1:1q31.3
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001591737] Chr1:196285674 [GRCh38]
Chr1:196254804 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.3009T>C (p.Asp1003=) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001730872]|not provided [RCV001612058] Chr1:196258396 [GRCh38]
Chr1:196227526 [GRCh37]
Chr1:1q31.3
benign
NM_198503.5(KCNT2):c.2249A>G (p.Asn750Ser) single nucleotide variant not provided [RCV001091022] Chr1:196326744 [GRCh38]
Chr1:196295874 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001269349]|Seizure [RCV000857309] Chr1:196340434 [GRCh38]
Chr1:196309564 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_198503.5(KCNT2):c.1582A>C (p.Arg528=) single nucleotide variant not provided [RCV000916184] Chr1:196340542 [GRCh38]
Chr1:196309672 [GRCh37]
Chr1:1q31.3
likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q31.3(chr1:196024811-196255042)x3 copy number gain not provided [RCV000848642] Chr1:196024811..196255042 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.2560G>A (p.Asp854Asn) single nucleotide variant not provided [RCV001091021] Chr1:196305269 [GRCh38]
Chr1:196274399 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3(chr1:196397668-196946808)x3 copy number gain not provided [RCV001005166] Chr1:196397668..196946808 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1
uncertain significance
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV000986477]|Inborn genetic diseases [RCV001266613] Chr1:196429671 [GRCh38]
Chr1:196398801 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001269347]|Inborn genetic diseases [RCV001267440]|not provided [RCV000994206] Chr1:196465362 [GRCh38]
Chr1:196434492 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs) deletion Developmental and epileptic encephalopathy, 57 [RCV001533420] Chr1:196340386..196340393 [GRCh38]
Chr1:196309516..196309523 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_198503.5(KCNT2):c.3119G>T (p.Arg1040Leu) single nucleotide variant Seizure [RCV001638181] Chr1:196258286 [GRCh38]
Chr1:196227416 [GRCh37]
Chr1:1q31.3
likely benign
NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) deletion Developmental and epileptic encephalopathy, 57 [RCV001269350]|Seizure [RCV000857310] Chr1:196492293..196492294 [GRCh38]
Chr1:196461423..196461424 [GRCh37]
Chr1:1q31.3
pathogenic
NM_198503.5(KCNT2):c.2073A>T (p.Lys691Asn) single nucleotide variant not provided [RCV001091023] Chr1:196331186 [GRCh38]
Chr1:196300316 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_198503.5(KCNT2):c.371A>C (p.Tyr124Ser) single nucleotide variant Inborn genetic diseases [RCV001267630] Chr1:196479192 [GRCh38]
Chr1:196448322 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.308C>T (p.Pro103Leu) single nucleotide variant Seizure [RCV001263390] Chr1:196482347 [GRCh38]
Chr1:196451477 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.535A>T (p.Asn179Tyr) single nucleotide variant not provided [RCV001342313] Chr1:196467711 [GRCh38]
Chr1:196436841 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.976A>G (p.Arg326Gly) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001328831] Chr1:196428113 [GRCh38]
Chr1:196397243 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_198503.5(KCNT2):c.543+8T>A single nucleotide variant not provided [RCV001312115] Chr1:196467695 [GRCh38]
Chr1:196436825 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.1295-18C>T single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001335622] Chr1:196373266 [GRCh38]
Chr1:196342396 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001269348] Chr1:196465362 [GRCh38]
Chr1:196434492 [GRCh37]
Chr1:1q31.3
pathogenic
NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV002226823] Chr1:196425877 [GRCh38]
Chr1:196395007 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_198503.5(KCNT2):c.1264C>T (p.Pro422Ser) single nucleotide variant not provided [RCV002254052] Chr1:196398593 [GRCh38]
Chr1:196367723 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.1361C>T (p.Thr454Ile) single nucleotide variant not provided [RCV001771213] Chr1:196373182 [GRCh38]
Chr1:196342312 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs) deletion Developmental and epileptic encephalopathy, 57 [RCV001775433] Chr1:196305322..196305328 [GRCh38]
Chr1:196274452..196274458 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_198503.5(KCNT2):c.2755A>G (p.Thr919Ala) single nucleotide variant not provided [RCV001769014] Chr1:196282299 [GRCh38]
Chr1:196251429 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.496G>T (p.Val166Phe) single nucleotide variant not provided [RCV001757262] Chr1:196467750 [GRCh38]
Chr1:196436880 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.175+1G>T single nucleotide variant KCNT2-related condition [RCV001824201] Chr1:196492261 [GRCh38]
Chr1:196461391 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q31.3(chr1:196105097-196205248)x1 copy number loss not provided [RCV001827943] Chr1:196105097..196205248 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.2674A>G (p.Met892Val) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV001837272] Chr1:196285680 [GRCh38]
Chr1:196254810 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_198503.5(KCNT2):c.1263G>A (p.Lys421=) single nucleotide variant not provided [RCV002211128] Chr1:196398594 [GRCh38]
Chr1:196367724 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.1034G>A (p.Arg345Gln) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV002244278] Chr1:196425939 [GRCh38]
Chr1:196395069 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV002249085] Chr1:196428175 [GRCh38]
Chr1:196397305 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_198503.5(KCNT2):c.2874C>G (p.Ile958Met) single nucleotide variant not provided [RCV002221876]   uncertain significance
NM_198503.5(KCNT2):c.1109T>G (p.Leu370Arg) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV002244279] Chr1:196425864 [GRCh38]
Chr1:196394994 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.2953G>A (p.Asp985Asn) single nucleotide variant not specified [RCV002247921] Chr1:196258452 [GRCh38]
Chr1:196227582 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys) single nucleotide variant Developmental and epileptic encephalopathy, 57 [RCV002227603] Chr1:196280939 [GRCh38]
Chr1:196250069 [GRCh37]
Chr1:1q31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18866 AgrOrtholog
COSMIC KCNT2 COSMIC
Ensembl Genes ENSG00000162687 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000294725 ENTREZGENE
  ENSP00000294725.8 UniProtKB/Swiss-Prot
  ENSP00000356403 ENTREZGENE
  ENSP00000356403.5 UniProtKB/Swiss-Prot
  ENSP00000405474.2 UniProtKB/TrEMBL
  ENSP00000476657 ENTREZGENE
  ENSP00000476657.1 UniProtKB/Swiss-Prot
  ENSP00000477456.1 UniProtKB/TrEMBL
  ENSP00000496885 ENTREZGENE
  ENSP00000496885.1 UniProtKB/TrEMBL
  ENSP00000501240.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000294725 ENTREZGENE
  ENST00000294725.14 UniProtKB/Swiss-Prot
  ENST00000367433 ENTREZGENE
  ENST00000367433.9 UniProtKB/Swiss-Prot
  ENST00000451324.6 UniProtKB/TrEMBL
  ENST00000466914.2 UniProtKB/TrEMBL
  ENST00000609185 ENTREZGENE
  ENST00000609185.5 UniProtKB/Swiss-Prot
  ENST00000647658 ENTREZGENE
  ENST00000647658.1 UniProtKB/TrEMBL
  ENST00000673703.1 UniProtKB/TrEMBL
GTEx ENSG00000162687 GTEx
HGNC ID HGNC:18866 ENTREZGENE
Human Proteome Map KCNT2 Human Proteome Map
InterPro K_chnl_BK_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:343450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 343450 ENTREZGENE
OMIM 610044 OMIM
  617771 OMIM
Pfam BK_channel_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38726 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRL4_HUMAN UniProtKB/TrEMBL
  A0A669KBD9_HUMAN UniProtKB/TrEMBL
  A9LNM6 ENTREZGENE, UniProtKB/TrEMBL
  KCNT2_HUMAN UniProtKB/Swiss-Prot
  Q3SY61_HUMAN UniProtKB/TrEMBL
  Q6UVM3 ENTREZGENE
  V9GZ63_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q3SY59 UniProtKB/Swiss-Prot
  Q5VTN1 UniProtKB/Swiss-Prot
  Q6ZMT3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNT2  potassium sodium-activated channel subfamily T member 2    potassium channel, sodium activated subfamily T, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNT2  potassium channel, sodium activated subfamily T, member 2    potassium channel, subfamily T, member 2  Symbol and/or name change 5135510 APPROVED