KCNA3 (potassium voltage-gated channel subfamily A member 3) - Rat Genome Database

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Gene: KCNA3 (potassium voltage-gated channel subfamily A member 3) Homo sapiens
Analyze
Symbol: KCNA3
Name: potassium voltage-gated channel subfamily A member 3
RGD ID: 1342945
HGNC Page HGNC:6221
Description: Predicted to enable delayed rectifier potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in calyx of Held; glutamatergic synapse; and synaptic membrane. Biomarker of hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HGK5; HLK3; HPCN3; HUKIII; KV1.3; MK3; PCN3; potassium channel 3; potassium channel, voltage gated shaker related subfamily A, member 3; potassium voltage-gated channel, shaker-related subfamily, member 3; RP11-284N8.3; type n potassium channel; voltage-gated K(+) channel HuKIII; voltage-gated potassium channel protein Kv1.3; voltage-gated potassium channel subunit Kv1.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381110,653,560 - 110,674,940 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1110,653,560 - 110,674,940 (-)EnsemblGRCh38hg38GRCh38
GRCh371111,196,182 - 111,217,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361111,015,833 - 111,019,178 (-)NCBINCBI36Build 36hg18NCBI36
Build 341110,926,351 - 110,929,697NCBI
Celera1109,461,411 - 109,464,756 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1109,085,699 - 109,089,044 (-)NCBIHuRef
CHM1_11111,329,439 - 111,332,784 (-)NCBICHM1_1
T2T-CHM13v2.01110,668,304 - 110,689,683 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
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. [Voltage-dependent potassium channel and calcium-activated potassium channel current changes of peripheral blood T-lymphocytes from hypertensive patients in Xinjiang Kazakh]. Zhang QB, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Dec;41(12):1020-4.
Additional References at PubMed
PMID:1373731   PMID:1547020   PMID:1986382   PMID:2251283   PMID:7477295   PMID:7829094   PMID:8938729   PMID:9341123   PMID:10428084   PMID:10479680   PMID:12150982   PMID:12435606  
PMID:12477932   PMID:12604782   PMID:12632187   PMID:12807917   PMID:12850541   PMID:12909584   PMID:12944270   PMID:14745040   PMID:15489334   PMID:15632141   PMID:16043714   PMID:16317062  
PMID:16344560   PMID:16382104   PMID:16729292   PMID:17088564   PMID:17160583   PMID:17242956   PMID:17579055   PMID:17582781   PMID:17854350   PMID:17878353   PMID:18218624   PMID:18611390  
PMID:18818304   PMID:19104661   PMID:19166614   PMID:19295169   PMID:19371328   PMID:19409928   PMID:19465885   PMID:19489042   PMID:19574640   PMID:19590190   PMID:19712592   PMID:19841189  
PMID:19850126   PMID:19959227   PMID:19961728   PMID:20060838   PMID:20114030   PMID:20371822   PMID:20601376   PMID:20603149   PMID:20798505   PMID:20865378   PMID:20884640   PMID:21087602  
PMID:21220411   PMID:21586699   PMID:21726550   PMID:21834013   PMID:21873635   PMID:22045429   PMID:22076464   PMID:22110135   PMID:22134923   PMID:22169811   PMID:22192444   PMID:22258405  
PMID:22360360   PMID:22378744   PMID:22547057   PMID:22931594   PMID:22952817   PMID:23099443   PMID:23300077   PMID:23335746   PMID:23382885   PMID:24055377   PMID:24114469   PMID:24594979  
PMID:24939846   PMID:25175978   PMID:25208915   PMID:25301362   PMID:25362031   PMID:25644777   PMID:25688010   PMID:25739456   PMID:25829491   PMID:25944908   PMID:26148969   PMID:26156069  
PMID:26186194   PMID:26393354   PMID:26634786   PMID:26655221   PMID:26748289   PMID:26871637   PMID:26931497   PMID:26994905   PMID:27146988   PMID:27802162   PMID:27816768   PMID:28248292  
PMID:28319085   PMID:28472608   PMID:28514442   PMID:29415410   PMID:29650988   PMID:31141130   PMID:31536992   PMID:31597447   PMID:31661467   PMID:32056271   PMID:32296183   PMID:32393512  
PMID:32562800   PMID:32597830   PMID:32910509   PMID:33038663   PMID:33230847   PMID:33649184   PMID:33828089   PMID:33961781   PMID:34196606   PMID:34554500   PMID:34857952   PMID:35091471  
PMID:35328733   PMID:35559673   PMID:35788586   PMID:36501016   PMID:37964487  


Genomics

Comparative Map Data
KCNA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381110,653,560 - 110,674,940 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1110,653,560 - 110,674,940 (-)EnsemblGRCh38hg38GRCh38
GRCh371111,196,182 - 111,217,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361111,015,833 - 111,019,178 (-)NCBINCBI36Build 36hg18NCBI36
Build 341110,926,351 - 110,929,697NCBI
Celera1109,461,411 - 109,464,756 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1109,085,699 - 109,089,044 (-)NCBIHuRef
CHM1_11111,329,439 - 111,332,784 (-)NCBICHM1_1
T2T-CHM13v2.01110,668,304 - 110,689,683 (-)NCBIT2T-CHM13v2.0
Kcna3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393106,943,486 - 106,947,223 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3106,943,485 - 106,945,386 (+)EnsemblGRCm39 Ensembl
GRCm383107,036,162 - 107,038,129 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3107,036,169 - 107,038,070 (+)EnsemblGRCm38mm10GRCm38
MGSCv373106,839,080 - 106,841,047 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363107,164,479 - 107,166,065 (+)NCBIMGSCv36mm8
Celera3109,365,430 - 109,367,397 (+)NCBICelera
Cytogenetic Map3F2.3NCBI
cM Map346.59NCBI
Kcna3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82197,320,324 - 197,322,277 (+)NCBIGRCr8
mRatBN7.22194,632,106 - 194,634,059 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2194,632,196 - 194,650,138 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2202,264,409 - 202,265,986 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02200,158,435 - 200,160,012 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02194,975,390 - 194,976,967 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02209,766,767 - 209,768,344 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2209,766,512 - 209,769,711 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02229,233,084 - 229,234,661 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42202,472,638 - 202,474,215 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12202,435,391 - 202,436,969 (+)NCBI
Celera2187,293,280 - 187,294,857 (+)NCBICelera
Cytogenetic Map2q34NCBI
Kcna3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543514,147,454 - 14,148,926 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543514,132,877 - 14,148,911 (-)NCBIChiLan1.0ChiLan1.0
KCNA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21116,366,047 - 116,384,339 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11115,513,619 - 115,531,881 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01113,304,340 - 113,323,367 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11127,021,508 - 127,042,481 (+)NCBIpanpan1.1PanPan1.1panPan2
KCNA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1641,343,613 - 41,363,076 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha644,120,679 - 44,140,399 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0641,675,464 - 41,695,170 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl641,675,383 - 41,677,026 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1641,395,369 - 41,415,083 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0641,366,130 - 41,385,831 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0641,801,395 - 41,821,138 (+)NCBIUU_Cfam_GSD_1.0
Kcna3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505818,028,223 - 18,047,417 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367042,084,436 - 2,085,923 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367042,083,037 - 2,085,917 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4109,495,350 - 109,497,116 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14109,495,220 - 109,498,548 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24119,860,978 - 119,877,340 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12022,869,388 - 22,885,406 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2022,870,880 - 22,872,607 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603835,569,291 - 35,590,505 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcna3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247726,364,325 - 6,376,208 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247726,360,169 - 6,376,281 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNA3
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2
pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_002232.5(KCNA3):c.401A>G (p.Lys134Arg) single nucleotide variant not provided [RCV000522003] Chr1:110674409 [GRCh38]
Chr1:111217031 [GRCh37]
Chr1:1p13.3
uncertain significance
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 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
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
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2
likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
NM_002232.5(KCNA3):c.1626C>T (p.Phe542=) single nucleotide variant not provided [RCV000900170] Chr1:110673184 [GRCh38]
Chr1:111215806 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1 copy number loss not provided [RCV000849607] Chr1:110994179..112360446 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3
not provided
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3
pathogenic
NM_002232.5(KCNA3):c.666G>T (p.Leu222=) single nucleotide variant not provided [RCV000909234] Chr1:110674144 [GRCh38]
Chr1:111216766 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994334]|not provided [RCV001814775] Chr1:110673447 [GRCh38]
Chr1:111216069 [GRCh37]
Chr1:1p13.3
likely pathogenic|uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2
pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3 copy number gain not provided [RCV002474868] Chr1:110662135..111401322 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.49C>A (p.Arg17Ser) single nucleotide variant Inborn genetic diseases [RCV002841647] Chr1:110674761 [GRCh38]
Chr1:111217383 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.337C>G (p.Leu113Val) single nucleotide variant Inborn genetic diseases [RCV002992976] Chr1:110674473 [GRCh38]
Chr1:111217095 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1655C>G (p.Ser552Cys) single nucleotide variant Inborn genetic diseases [RCV002794242] Chr1:110673155 [GRCh38]
Chr1:111215777 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1271C>T (p.Pro424Leu) single nucleotide variant Inborn genetic diseases [RCV002822531] Chr1:110673539 [GRCh38]
Chr1:111216161 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.641G>A (p.Arg214His) single nucleotide variant Inborn genetic diseases [RCV002884902] Chr1:110674169 [GRCh38]
Chr1:111216791 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.266T>C (p.Leu89Pro) single nucleotide variant Inborn genetic diseases [RCV002936153] Chr1:110674544 [GRCh38]
Chr1:111217166 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.853C>G (p.Arg285Gly) single nucleotide variant Inborn genetic diseases [RCV002747956] Chr1:110673957 [GRCh38]
Chr1:111216579 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.137G>A (p.Gly46Asp) single nucleotide variant Inborn genetic diseases [RCV002896448] Chr1:110674673 [GRCh38]
Chr1:111217295 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1636C>T (p.Pro546Ser) single nucleotide variant Inborn genetic diseases [RCV002723997] Chr1:110673174 [GRCh38]
Chr1:111215796 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1070C>T (p.Ala357Val) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994530] Chr1:110673740 [GRCh38]
Chr1:111216362 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1430C>A (p.Pro477His) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994526]|KCNA3-associated disorder [RCV003992756] Chr1:110673380 [GRCh38]
Chr1:111216002 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1432G>A (p.Val478Met) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994528] Chr1:110673378 [GRCh38]
Chr1:111216000 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1402_1403delinsTT (p.Gly468Phe) indel KCNA3-associated developmental and epileptic encephalopathy [RCV003994527] Chr1:110673407..110673408 [GRCh38]
Chr1:111216029..111216030 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1081G>A (p.Ala361Thr) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994531] Chr1:110673729 [GRCh38]
Chr1:111216351 [GRCh37]
Chr1:1p13.3
likely pathogenic|uncertain significance
NM_002232.5(KCNA3):c.613C>T (p.Arg205Trp) single nucleotide variant Inborn genetic diseases [RCV003261509] Chr1:110674197 [GRCh38]
Chr1:111216819 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.814G>T (p.Asp272Tyr) single nucleotide variant Inborn genetic diseases [RCV003206647] Chr1:110673996 [GRCh38]
Chr1:111216618 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.614G>T (p.Arg205Leu) single nucleotide variant Inborn genetic diseases [RCV003215147] Chr1:110674196 [GRCh38]
Chr1:111216818 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.404G>T (p.Arg135Leu) single nucleotide variant Inborn genetic diseases [RCV003183756] Chr1:110674406 [GRCh38]
Chr1:111217028 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.32C>G (p.Pro11Arg) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994529] Chr1:110674778 [GRCh38]
Chr1:111217400 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1292T>A (p.Ile431Asn) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994532] Chr1:110673518 [GRCh38]
Chr1:111216140 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1328C>T (p.Thr443Ile) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994533] Chr1:110673482 [GRCh38]
Chr1:111216104 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1378G>A (p.Val460Met) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994534] Chr1:110673432 [GRCh38]
Chr1:111216054 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.856G>T (p.Ala286Ser) single nucleotide variant Inborn genetic diseases [RCV003217339] Chr1:110673954 [GRCh38]
Chr1:111216576 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.58G>T (p.Ala20Ser) single nucleotide variant Inborn genetic diseases [RCV003195306] Chr1:110674752 [GRCh38]
Chr1:111217374 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.37C>T (p.Pro13Ser) single nucleotide variant Inborn genetic diseases [RCV003261842] Chr1:110674773 [GRCh38]
Chr1:111217395 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
NM_002232.5(KCNA3):c.1574G>A (p.Ser525Asn) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994801] Chr1:110673236 [GRCh38]
Chr1:111215858 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1402G>C (p.Gly468Arg) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994803] Chr1:110673408 [GRCh38]
Chr1:111216030 [GRCh37]
Chr1:1p13.3
likely pathogenic
GRCh37/hg19 1p13.3(chr1:111167391-111232936)x3 copy number gain not specified [RCV003986973] Chr1:111167391..111232936 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1 copy number loss not specified [RCV003987183] Chr1:109700156..112176616 [GRCh37]
Chr1:1p13.3-13.2
uncertain significance
NM_002232.5(KCNA3):c.1403G>T (p.Gly468Val) single nucleotide variant KCNA3-associated developmental and epileptic encephalopathy [RCV003994800] Chr1:110673407 [GRCh38]
Chr1:111216029 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_002232.5(KCNA3):c.1192C>G (p.Leu398Val) single nucleotide variant KCNA3-related disorder [RCV003982753] Chr1:110673618 [GRCh38]
Chr1:111216240 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1604G>C (p.Gly535Ala) single nucleotide variant Inborn genetic diseases [RCV004405911] Chr1:110673206 [GRCh38]
Chr1:111215828 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1610T>C (p.Met537Thr) single nucleotide variant Inborn genetic diseases [RCV004405912] Chr1:110673200 [GRCh38]
Chr1:111215822 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.1611G>C (p.Met537Ile) single nucleotide variant Inborn genetic diseases [RCV004405913] Chr1:110673199 [GRCh38]
Chr1:111215821 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.170C>T (p.Pro57Leu) single nucleotide variant Inborn genetic diseases [RCV004405915] Chr1:110674640 [GRCh38]
Chr1:111217262 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.268C>T (p.Pro90Ser) single nucleotide variant Inborn genetic diseases [RCV004405916] Chr1:110674542 [GRCh38]
Chr1:111217164 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.269C>T (p.Pro90Leu) single nucleotide variant Inborn genetic diseases [RCV004405917] Chr1:110674541 [GRCh38]
Chr1:111217163 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.271C>T (p.Pro91Ser) single nucleotide variant Inborn genetic diseases [RCV004405918] Chr1:110674539 [GRCh38]
Chr1:111217161 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.310G>A (p.Glu104Lys) single nucleotide variant Inborn genetic diseases [RCV004405919] Chr1:110674500 [GRCh38]
Chr1:111217122 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.67C>T (p.Pro23Ser) single nucleotide variant Inborn genetic diseases [RCV004405920] Chr1:110674743 [GRCh38]
Chr1:111217365 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.796C>A (p.Pro266Thr) single nucleotide variant Inborn genetic diseases [RCV004405921] Chr1:110674014 [GRCh38]
Chr1:111216636 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.848G>A (p.Gly283Glu) single nucleotide variant Inborn genetic diseases [RCV004405922] Chr1:110673962 [GRCh38]
Chr1:111216584 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_002232.5(KCNA3):c.91G>C (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV004405923] Chr1:110674719 [GRCh38]
Chr1:111217341 [GRCh37]
Chr1:1p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:645
Count of miRNA genes:468
Interacting mature miRNAs:517
Transcripts:ENST00000369769
Prediction methods: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.

Markers in Region
D1S3456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371111,215,634 - 111,215,828UniSTSGRCh37
Build 361111,017,157 - 111,017,351RGDNCBI36
Celera1109,462,735 - 109,462,929RGD
Cytogenetic Map1p13.3UniSTS
HuRef1109,087,023 - 109,087,217UniSTS
SHGC-75313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371111,215,021 - 111,215,190UniSTSGRCh37
Build 361111,016,544 - 111,016,713RGDNCBI36
Celera1109,462,122 - 109,462,291RGD
Cytogenetic Map1p13.3UniSTS
HuRef1109,086,410 - 109,086,579UniSTS
TNG Radiation Hybrid Map148364.0UniSTS
GeneMap99-GB4 RH Map1353.69UniSTS
NCBI RH Map1846.5UniSTS
D1S3253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371111,215,331 - 111,215,445UniSTSGRCh37
Build 361111,016,854 - 111,016,968RGDNCBI36
Celera1109,462,432 - 109,462,546RGD
Cytogenetic Map1p13.3UniSTS
HuRef1109,086,720 - 109,086,834UniSTS
Stanford-G3 RH Map15172.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1821.1UniSTS
GeneMap99-G3 RH Map15128.0UniSTS


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 pharyngeal arch
High
Medium 19 69 10 344 4 7 2 4 45 1
Low 687 948 908 247 1447 114 561 49 1850 115 740 1220 134 534 124 1 2
Below cutoff 1560 1770 723 327 114 297 3228 1748 1766 224 588 199 32 1 663 2194 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA811374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM995500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA438434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB086905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY035404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L23499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M85217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000369769   ⟹   ENSP00000358784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,672,465 - 110,674,940 (-)Ensembl
RefSeq Acc Id: ENST00000685980   ⟹   ENSP00000513296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,653,560 - 110,674,930 (-)Ensembl
RefSeq Acc Id: ENST00000697409   ⟹   ENSP00000513297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,658,003 - 110,674,940 (-)Ensembl
RefSeq Acc Id: ENST00000697410   ⟹   ENSP00000513298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,658,804 - 110,674,940 (-)Ensembl
RefSeq Acc Id: ENST00000697411   ⟹   ENSP00000513299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,659,395 - 110,674,940 (-)Ensembl
RefSeq Acc Id: ENST00000697412   ⟹   ENSP00000513300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,667,767 - 110,674,940 (-)Ensembl
RefSeq Acc Id: NM_002232   ⟹   NP_002223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,672,465 - 110,674,940 (-)NCBI
GRCh371111,196,182 - 111,217,655 (-)NCBI
Build 361111,015,833 - 111,019,178 (-)NCBI Archive
HuRef1109,067,566 - 109,089,044 (-)NCBI
CHM1_11111,330,203 - 111,332,784 (-)NCBI
T2T-CHM13v2.01110,687,208 - 110,689,683 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109845
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,653,572 - 110,673,454 (-)NCBI
HuRef1109,067,566 - 109,089,044 (-)NCBI
CHM1_11111,311,311 - 111,331,205 (-)NCBI
T2T-CHM13v2.01110,668,316 - 110,688,197 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109846
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,653,560 - 110,671,775 (-)NCBI
HuRef1109,067,566 - 109,089,044 (-)NCBI
CHM1_11111,311,311 - 111,329,526 (-)NCBI
T2T-CHM13v2.01110,668,304 - 110,686,518 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002223   ⟸   NM_002232
- UniProtKB: Q5VWN2 (UniProtKB/Swiss-Prot),   P22001 (UniProtKB/Swiss-Prot),   Q6P2D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000358784   ⟸   ENST00000369769
RefSeq Acc Id: ENSP00000513300   ⟸   ENST00000697412
RefSeq Acc Id: ENSP00000513297   ⟸   ENST00000697409
RefSeq Acc Id: ENSP00000513299   ⟸   ENST00000697411
RefSeq Acc Id: ENSP00000513298   ⟸   ENST00000697410
RefSeq Acc Id: ENSP00000513296   ⟸   ENST00000685980
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22001-F1-model_v2 AlphaFold P22001 1-575 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6221 AgrOrtholog
COSMIC KCNA3 COSMIC
Ensembl Genes ENSG00000177272 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369769 ENTREZGENE
  ENST00000369769.4 UniProtKB/Swiss-Prot
  ENST00000685980.2 UniProtKB/Swiss-Prot
  ENST00000697409.1 UniProtKB/Swiss-Prot
  ENST00000697410.1 UniProtKB/Swiss-Prot
  ENST00000697411.1 UniProtKB/TrEMBL
  ENST00000697412.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177272 GTEx
HGNC ID HGNC:6221 ENTREZGENE
Human Proteome Map KCNA3 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv1.3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3738 UniProtKB/Swiss-Prot
NCBI Gene 3738 ENTREZGENE
OMIM 176263 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY A MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30021 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV13CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHAKERCHANEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP POZ domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TMD4_HUMAN UniProtKB/TrEMBL
  KCNA3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VWN2 ENTREZGENE
  Q6P2D3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5VWN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNA3  potassium voltage-gated channel subfamily A member 3  KCNA3  potassium channel, voltage gated shaker related subfamily A, member 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNA3  potassium channel, voltage gated shaker related subfamily A, member 3  KCNA3  potassium voltage-gated channel, shaker-related subfamily, member 3  Symbol and/or name change 5135510 APPROVED