KCNS2 (potassium voltage-gated channel modifier subfamily S member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: KCNS2 (potassium voltage-gated channel modifier subfamily S member 2) Homo sapiens
Analyze
Symbol: KCNS2
Name: potassium voltage-gated channel modifier subfamily S member 2
RGD ID: 1342899
HGNC Page HGNC:6301
Description: Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Predicted to be part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: delayed-rectifier K(+) channel alpha subunit 2; KV9.2; potassium voltage-gated channel subfamily S member 2; potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2; potassium voltage-gated channel, modifier subfamily S, member 2; voltage-gated potassium channel subunit Kv9.2
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
GRCh38898,426,958 - 98,432,853 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,426,958 - 98,432,853 (+)EnsemblGRCh38hg38GRCh38
GRCh37899,439,186 - 99,445,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,508,426 - 99,512,201 (+)NCBINCBI36Build 36hg18NCBI36
Celera895,625,108 - 95,628,883 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef894,643,401 - 94,646,268 (+)NCBIHuRef
CHM1_1899,479,872 - 99,483,647 (+)NCBICHM1_1
T2T-CHM13v2.0899,552,416 - 99,558,311 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. New modulatory alpha subunits for mammalian Shab K+ channels. Salinas M, etal., J Biol Chem 1997 Sep 26;272(39):24371-9.
Additional References at PubMed
PMID:8640222   PMID:10574461   PMID:12477932   PMID:15489334   PMID:16382104   PMID:21873635   PMID:25416956   PMID:29676528   PMID:29769701   PMID:32296183   PMID:34857952   PMID:36949045  


Genomics

Comparative Map Data
KCNS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38898,426,958 - 98,432,853 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,426,958 - 98,432,853 (+)EnsemblGRCh38hg38GRCh38
GRCh37899,439,186 - 99,445,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,508,426 - 99,512,201 (+)NCBINCBI36Build 36hg18NCBI36
Celera895,625,108 - 95,628,883 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef894,643,401 - 94,646,268 (+)NCBIHuRef
CHM1_1899,479,872 - 99,483,647 (+)NCBICHM1_1
T2T-CHM13v2.0899,552,416 - 99,558,311 (+)NCBIT2T-CHM13v2.0
Kcns2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,837,501 - 34,843,553 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1534,837,501 - 34,843,553 (+)EnsemblGRCm39 Ensembl
GRCm381534,837,355 - 34,843,407 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,837,355 - 34,843,407 (+)EnsemblGRCm38mm10GRCm38
MGSCv371534,767,136 - 34,772,092 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361534,781,970 - 34,786,926 (+)NCBIMGSCv36mm8
Celera1535,465,135 - 35,470,092 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.34NCBI
Kcns2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8767,907,492 - 67,913,562 (+)NCBIGRCr8
mRatBN7.2766,022,352 - 66,028,422 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl766,022,352 - 66,028,422 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx767,911,555 - 67,917,625 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0770,113,237 - 70,119,307 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0769,986,815 - 69,992,884 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0773,559,226 - 73,590,385 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl773,588,163 - 73,590,385 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0773,734,435 - 73,765,356 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,249,013 - 70,280,172 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1770,298,679 - 70,300,902 (+)NCBI
Celera763,093,318 - 63,124,340 (+)NCBICelera
Cytogenetic Map7q22NCBI
Kcns2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541714,076,521 - 14,077,957 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541714,076,494 - 14,081,556 (+)NCBIChiLan1.0ChiLan1.0
KCNS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27115,775,400 - 115,786,358 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1891,316,956 - 91,327,906 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0895,070,460 - 95,078,405 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1897,251,193 - 97,254,299 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,251,481 - 97,252,914 (+)Ensemblpanpan1.1panPan2
KCNS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.113622,676 - 628,301 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl13623,424 - 624,857 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha13615,971 - 621,592 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.013772,292 - 777,913 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl13772,281 - 778,915 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.113614,747 - 620,370 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.013722,944 - 728,562 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.013729,263 - 734,886 (+)NCBIUU_Cfam_GSD_1.0
Kcns2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,028,375 - 37,034,228 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647044,456,526 - 44,460,327 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647044,455,117 - 44,460,193 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl438,361,347 - 38,367,695 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1438,362,882 - 38,374,415 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,343,847 - 93,349,828 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl893,344,822 - 93,346,255 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603947,389,070 - 47,395,077 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcns2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247635,544,104 - 5,546,691 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247635,544,102 - 5,550,595 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNS2
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_020697.4(KCNS2):c.901C>A (p.Arg301=) single nucleotide variant not provided [RCV000969542] Chr8:98428880 [GRCh38]
Chr8:99441108 [GRCh37]
Chr8:8q22.2		 benign
NM_020697.4(KCNS2):c.805G>A (p.Val269Ile) single nucleotide variant not provided [RCV000897754] Chr8:98428784 [GRCh38]
Chr8:99441012 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_99135566)_(100205305_?)dup duplication Cohen syndrome [RCV001980003] Chr8:99135566..100205305 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_99135566)_(106815766_?)dup duplication Cohen syndrome [RCV001997398] Chr8:99135566..106815766 [GRCh37]
Chr8:8q22.2-23.1		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_98358247)_(106815766_?)dup duplication not provided [RCV003122777] Chr8:98358247..106815766 [GRCh37]
Chr8:8q22.1-23.1		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_020697.4(KCNS2):c.1237T>C (p.Phe413Leu) single nucleotide variant Inborn genetic diseases [RCV003304100] Chr8:98429216 [GRCh38]
Chr8:99441444 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99132556-100021840)x3 copy number gain not provided [RCV002473675] Chr8:99132556..100021840 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
GRCh37/hg19 8q22.2(chr8:99257391-99467206)x3 copy number gain not provided [RCV002475670] Chr8:99257391..99467206 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.383T>C (p.Val128Ala) single nucleotide variant Inborn genetic diseases [RCV002907140] Chr8:98428362 [GRCh38]
Chr8:99440590 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.1253G>A (p.Arg418Gln) single nucleotide variant Inborn genetic diseases [RCV002708754] Chr8:98429232 [GRCh38]
Chr8:99441460 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.661C>T (p.Pro221Ser) single nucleotide variant Inborn genetic diseases [RCV002931260] Chr8:98428640 [GRCh38]
Chr8:99440868 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.1282C>T (p.Arg428Cys) single nucleotide variant Inborn genetic diseases [RCV002985861] Chr8:98429261 [GRCh38]
Chr8:99441489 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.1338C>G (p.Asp446Glu) single nucleotide variant Inborn genetic diseases [RCV002669700] Chr8:98429317 [GRCh38]
Chr8:99441545 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.541G>A (p.Gly181Ser) single nucleotide variant Inborn genetic diseases [RCV002836118] Chr8:98428520 [GRCh38]
Chr8:99440748 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.122C>T (p.Thr41Met) single nucleotide variant Inborn genetic diseases [RCV002940261] Chr8:98428101 [GRCh38]
Chr8:99440329 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.487G>A (p.Gly163Arg) single nucleotide variant Inborn genetic diseases [RCV003216017] Chr8:98428466 [GRCh38]
Chr8:99440694 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.19T>C (p.Trp7Arg) single nucleotide variant Inborn genetic diseases [RCV003197547] Chr8:98427998 [GRCh38]
Chr8:99440226 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_020697.4(KCNS2):c.757C>G (p.Leu253Val) single nucleotide variant Inborn genetic diseases [RCV003175208] Chr8:98428736 [GRCh38]
Chr8:99440964 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3905
Count of miRNA genes:822
Interacting mature miRNAs:977
Transcripts:ENST00000287042, ENST00000521839
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
STS-R44628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,442,711 - 99,442,979UniSTSGRCh37
Build 36899,511,887 - 99,512,155RGDNCBI36
Celera895,628,569 - 95,628,837RGD
Cytogenetic Map8q22UniSTS
HuRef894,645,954 - 94,646,222UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
NCBI RH Map8998.8UniSTS
SHGC-149903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,438,309 - 99,438,603UniSTSGRCh37
Build 36899,507,485 - 99,507,779RGDNCBI36
Celera895,624,167 - 95,624,461RGD
Cytogenetic Map8q22UniSTS
HuRef894,641,621 - 94,641,915UniSTS
TNG Radiation Hybrid Map847326.0UniSTS
A004D03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,443,875 - 99,443,987UniSTSGRCh37
Build 36899,513,051 - 99,513,163RGDNCBI36
Celera895,629,733 - 95,629,845RGD
Cytogenetic Map8q22UniSTS
HuRef894,647,118 - 94,647,230UniSTS
GeneMap99-GB4 RH Map8442.14UniSTS
NCBI RH Map81122.7UniSTS
RH101843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,442,811 - 99,442,956UniSTSGRCh37
Build 36899,511,987 - 99,512,132RGDNCBI36
Celera895,628,669 - 95,628,814RGD
Cytogenetic Map8q22UniSTS
HuRef894,646,054 - 94,646,199UniSTS
GeneMap99-GB4 RH Map8438.08UniSTS
WI-21518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,442,737 - 99,442,987UniSTSGRCh37
Build 36899,511,913 - 99,512,163RGDNCBI36
Celera895,628,595 - 95,628,845RGD
Cytogenetic Map8q22UniSTS
HuRef894,645,980 - 94,646,230UniSTS
GeneMap99-GB4 RH Map8437.47UniSTS
Whitehead-RH Map8566.2UniSTS
NCBI RH Map81052.6UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2 30 1 2 3 1
Low 442 295 418 2 68 3 915 68 1859 42 579 391 1 774 404 1
Below cutoff 1771 2203 1032 379 989 235 2894 1752 1730 173 738 1063 150 428 2097 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000287042   ⟹   ENSP00000287042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,426,958 - 98,432,853 (+)Ensembl
RefSeq Acc Id: ENST00000521839   ⟹   ENSP00000430712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,427,531 - 98,432,148 (+)Ensembl
RefSeq Acc Id: NM_020697   ⟹   NP_065748
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,426,958 - 98,432,853 (+)NCBI
GRCh37899,439,250 - 99,443,025 (+)RGD
Build 36899,508,426 - 99,512,201 (+)NCBI Archive
Celera895,625,108 - 95,628,883 (+)RGD
HuRef894,643,401 - 94,646,268 (+)RGD
CHM1_1899,479,872 - 99,483,647 (+)NCBI
T2T-CHM13v2.0899,552,416 - 99,558,311 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_065748 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27932 (Get FASTA)   NCBI Sequence Viewer  
  AAH34778 (Get FASTA)   NCBI Sequence Viewer  
  BAA86458 (Get FASTA)   NCBI Sequence Viewer  
  BAF85785 (Get FASTA)   NCBI Sequence Viewer  
  EAW91780 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000287042
  ENSP00000287042.4
  ENSP00000430712.1
GenBank Protein Q9ULS6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_065748   ⟸   NM_020697
- UniProtKB: A8KAN1 (UniProtKB/Swiss-Prot),   Q9ULS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430712   ⟸   ENST00000521839
RefSeq Acc Id: ENSP00000287042   ⟸   ENST00000287042

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULS6-F1-model_v2 AlphaFold Q9ULS6 1-477 view protein structure

Promoters
RGD ID:7213865
Promoter ID:EPDNEW_H12678
Type:initiation region
Name:KCNS2_2
Description:potassium voltage-gated channel modifier subfamily S member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12679  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,426,957 - 98,427,017EPDNEW
RGD ID:7213867
Promoter ID:EPDNEW_H12679
Type:multiple initiation site
Name:KCNS2_1
Description:potassium voltage-gated channel modifier subfamily S member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12678  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,427,134 - 98,427,194EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6301 AgrOrtholog
COSMIC KCNS2 COSMIC
Ensembl Genes ENSG00000156486 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287042 ENTREZGENE
  ENST00000287042.5 UniProtKB/Swiss-Prot
  ENST00000521839.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  1.20.120.350 UniProtKB/Swiss-Prot
GTEx ENSG00000156486 GTEx
HGNC ID HGNC:6301 ENTREZGENE
Human Proteome Map KCNS2 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv9 UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  T1-type_BTB UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3788 UniProtKB/Swiss-Prot
NCBI Gene 3788 ENTREZGENE
OMIM 602906 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY S MEMBER 2 UniProtKB/Swiss-Prot
  PTHR11537 UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PharmGKB PA30079 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot
  KV9CHANNEL UniProtKB/Swiss-Prot
  KVCHANNEL UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt A8KAN1 ENTREZGENE
  KCNS2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8KAN1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNS2  potassium voltage-gated channel modifier subfamily S member 2    potassium voltage-gated channel, modifier subfamily S, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNS2  potassium voltage-gated channel, modifier subfamily S, member 2    potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2  Symbol and/or name change 5135510 APPROVED