KCNA4 (potassium voltage-gated channel subfamily A member 4) - 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: KCNA4 (potassium voltage-gated channel subfamily A member 4) Homo sapiens
Analyze
Symbol: KCNA4
Name: potassium voltage-gated channel subfamily A member 4
RGD ID: 731771
HGNC Page HGNC:6222
Description: Enables voltage-gated potassium channel activity. Involved in potassium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac potassium channel; fetal skeletal muscle potassium channel; HBK4; HK1; HPCN2; HUKII; KCNA4L; KCNA8; KV1.4; MCIDDS; PCN2; potassium channel 2; potassium channel, voltage gated shaker related subfamily A, member 4; potassium voltage-gated channel, shaker-related subfamily, member 4; potassium voltage-gated channel, shaker-related subfamily, member 4-like; rapidly inactivating potassium channel; shaker-related potassium channel Kv1.4; type A potassium channel; voltage-gated K(+) channel HuKII; voltage-gated potassium channel HBK4; voltage-gated potassium channel HK1; voltage-gated potassium channel subunit Kv1.4
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
GRCh381130,009,730 - 30,017,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1130,009,730 - 30,017,030 (-)EnsemblGRCh38hg38GRCh38
GRCh371130,031,277 - 30,038,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361129,988,341 - 29,995,064 (-)NCBINCBI36Build 36hg18NCBI36
Build 341129,988,340 - 29,995,064NCBI
Celera1130,177,828 - 30,184,551 (-)NCBICelera
Cytogenetic Map11p14.1NCBI
HuRef1129,723,661 - 29,730,948 (-)NCBIHuRef
CHM1_11130,030,186 - 30,037,475 (-)NCBICHM1_1
T2T-CHM13v2.01130,143,826 - 30,151,124 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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
Additional References at PubMed
PMID:1362562   PMID:1487251   PMID:1986382   PMID:2001794   PMID:2263489   PMID:7477295   PMID:7905852   PMID:8449523   PMID:8495559   PMID:8601796   PMID:8938729   PMID:9024696  
PMID:9581762   PMID:9786987   PMID:10428084   PMID:10428758   PMID:10896669   PMID:11149959   PMID:11278603   PMID:11352924   PMID:11389904   PMID:11723117   PMID:11744724   PMID:11937501  
PMID:11997254   PMID:12065763   PMID:12435606   PMID:12860415   PMID:15123239   PMID:15136567   PMID:15955806   PMID:16169070   PMID:16308273   PMID:16344560   PMID:16382104   PMID:16637659  
PMID:17156368   PMID:17959711   PMID:18640987   PMID:19453640   PMID:19912772   PMID:19961828   PMID:19968958   PMID:21307345   PMID:21873635   PMID:21945024   PMID:22087225   PMID:22560931  
PMID:22889411   PMID:23390957   PMID:27619418   PMID:30812034   PMID:32296183   PMID:33961781   PMID:34038243   PMID:34857952   PMID:35439054   PMID:36693615  


Genomics

Comparative Map Data
KCNA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381130,009,730 - 30,017,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1130,009,730 - 30,017,030 (-)EnsemblGRCh38hg38GRCh38
GRCh371130,031,277 - 30,038,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361129,988,341 - 29,995,064 (-)NCBINCBI36Build 36hg18NCBI36
Build 341129,988,340 - 29,995,064NCBI
Celera1130,177,828 - 30,184,551 (-)NCBICelera
Cytogenetic Map11p14.1NCBI
HuRef1129,723,661 - 29,730,948 (-)NCBIHuRef
CHM1_11130,030,186 - 30,037,475 (-)NCBICHM1_1
T2T-CHM13v2.01130,143,826 - 30,151,124 (-)NCBIT2T-CHM13v2.0
Kcna4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392107,120,934 - 107,157,149 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2107,120,984 - 107,128,847 (+)EnsemblGRCm39 Ensembl
GRCm382107,290,589 - 107,326,804 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2107,290,639 - 107,298,502 (+)EnsemblGRCm38mm10GRCm38
MGSCv372107,130,746 - 107,138,661 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362107,091,493 - 107,099,343 (+)NCBIMGSCv36mm8
Celera2108,498,776 - 108,506,689 (+)NCBICelera
Cytogenetic Map2E3NCBI
cM Map256.12NCBI
Kcna4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83114,211,091 - 114,218,545 (+)NCBIGRCr8
mRatBN7.2393,756,399 - 93,778,004 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl393,756,446 - 93,769,162 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx397,313,368 - 97,316,494 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03105,912,302 - 105,915,428 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03103,683,372 - 103,686,498 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0398,293,295 - 98,300,763 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl398,297,554 - 98,300,680 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03104,897,715 - 104,905,175 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4392,781,795 - 92,784,921 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1392,678,222 - 92,681,349 (+)NCBI
Celera392,807,179 - 92,810,305 (+)NCBICelera
Cytogenetic Map3q33NCBI
Kcna4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554768,622,019 - 8,623,980 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554768,621,019 - 8,624,764 (-)NCBIChiLan1.0ChiLan1.0
KCNA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2932,230,491 - 32,237,640 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11132,206,256 - 32,242,513 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01129,975,072 - 29,991,716 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11129,876,486 - 29,882,630 (-)NCBIpanpan1.1PanPan1.1panPan2
KCNA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12150,114,251 - 50,120,070 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2150,115,506 - 50,117,506 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2149,557,789 - 49,560,814 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02151,289,806 - 51,292,829 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2151,289,841 - 51,291,841 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12150,305,592 - 50,307,634 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02150,435,227 - 50,437,266 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02151,057,264 - 51,060,288 (-)NCBIUU_Cfam_GSD_1.0
Kcna4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494734,464,135 - 34,471,672 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365337,588,950 - 7,596,696 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365337,588,965 - 7,596,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl230,605,564 - 30,613,452 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1230,605,503 - 30,615,997 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2233,068,113 - 33,074,583 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1135,155,318 - 35,162,813 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl135,159,671 - 35,161,632 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038132,340,152 - 132,349,028 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcna4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476619,155,792 - 19,161,647 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476619,154,841 - 19,161,810 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNA4
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13		 pathogenic
GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3 copy number gain See cases [RCV000134877] Chr11:24595399..31096539 [GRCh38]
Chr11:24616945..31118086 [GRCh37]
Chr11:24573521..31074662 [NCBI36]
Chr11:11p14.3-13		 pathogenic
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1 copy number loss 11p partial monosomy syndrome [RCV000433834] Chr11:29750813..32752091 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1 copy number loss See cases [RCV000448524] Chr11:27895487..34494489 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1 copy number loss not provided [RCV000683364] Chr11:29883001..33865721 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p14.1(chr11:29572907-30171839)x3 copy number gain not provided [RCV000683341] Chr11:29572907..30171839 [GRCh37]
Chr11:11p14.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 copy number loss not provided [RCV000737466] Chr11:25196998..34196484 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln) single nucleotide variant Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum [RCV000736033] Chr11:30012413 [GRCh38]
Chr11:30033960 [GRCh37]
Chr11:11p14.1		 pathogenic|uncertain significance
GRCh37/hg19 11p14.2-13(chr11:27154853-33302474)x1 copy number loss not provided [RCV000749997] Chr11:27154853..33302474 [GRCh37]
Chr11:11p14.2-13		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NM_002233.4(KCNA4):c.1824G>C (p.Lys608Asn) single nucleotide variant Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum [RCV001328934] Chr11:30010855 [GRCh38]
Chr11:30032402 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1035C>T (p.Gly345=) single nucleotide variant not provided [RCV001527773] Chr11:30011644 [GRCh38]
Chr11:30033191 [GRCh37]
Chr11:11p14.1		 benign
NM_002233.4(KCNA4):c.794C>T (p.Ala265Val) single nucleotide variant Inborn genetic diseases [RCV003276829] Chr11:30011885 [GRCh38]
Chr11:30033432 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1503G>A (p.Ala501=) single nucleotide variant not provided [RCV002211184] Chr11:30011176 [GRCh38]
Chr11:30032723 [GRCh37]
Chr11:11p14.1		 likely benign
GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1 copy number loss not provided [RCV002265529] Chr11:27547893..31656604 [GRCh37]
Chr11:11p14.1-13		 not provided
NM_002233.4(KCNA4):c.1311C>T (p.Ala437=) single nucleotide variant not provided [RCV002262355] Chr11:30011368 [GRCh38]
Chr11:30032915 [GRCh37]
Chr11:11p14.1		 likely benign
NM_002233.4(KCNA4):c.146C>T (p.Ala49Val) single nucleotide variant Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum [RCV002295371] Chr11:30012533 [GRCh38]
Chr11:30034080 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.830G>A (p.Arg277Lys) single nucleotide variant Inborn genetic diseases [RCV002773568] Chr11:30011849 [GRCh38]
Chr11:30033396 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1951A>G (p.Thr651Ala) single nucleotide variant Inborn genetic diseases [RCV002841560] Chr11:30010728 [GRCh38]
Chr11:30032275 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1919A>G (p.Lys640Arg) single nucleotide variant Inborn genetic diseases [RCV002753494] Chr11:30010760 [GRCh38]
Chr11:30032307 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.407A>C (p.Glu136Ala) single nucleotide variant Inborn genetic diseases [RCV002793909] Chr11:30012272 [GRCh38]
Chr11:30033819 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.949A>G (p.Ile317Val) single nucleotide variant Inborn genetic diseases [RCV002758270] Chr11:30011730 [GRCh38]
Chr11:30033277 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.442G>C (p.Gly148Arg) single nucleotide variant Inborn genetic diseases [RCV002891864] Chr11:30012237 [GRCh38]
Chr11:30033784 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.95G>A (p.Arg32Lys) single nucleotide variant Inborn genetic diseases [RCV002804496] Chr11:30012584 [GRCh38]
Chr11:30034131 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1087G>A (p.Gly363Arg) single nucleotide variant Inborn genetic diseases [RCV002931615] Chr11:30011592 [GRCh38]
Chr11:30033139 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.221A>G (p.His74Arg) single nucleotide variant Inborn genetic diseases [RCV002696439] Chr11:30012458 [GRCh38]
Chr11:30034005 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1603G>T (p.Val535Leu) single nucleotide variant Inborn genetic diseases [RCV002808308] Chr11:30011076 [GRCh38]
Chr11:30032623 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.940G>A (p.Val314Ile) single nucleotide variant Inborn genetic diseases [RCV002934539] Chr11:30011739 [GRCh38]
Chr11:30033286 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.76C>T (p.Arg26Trp) single nucleotide variant Inborn genetic diseases [RCV002965082] Chr11:30012603 [GRCh38]
Chr11:30034150 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.381T>G (p.Asp127Glu) single nucleotide variant Inborn genetic diseases [RCV002879266] Chr11:30012298 [GRCh38]
Chr11:30033845 [GRCh37]
Chr11:11p14.1		 likely benign
NM_002233.4(KCNA4):c.55T>C (p.Tyr19His) single nucleotide variant Inborn genetic diseases [RCV002724465] Chr11:30012624 [GRCh38]
Chr11:30034171 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.394G>A (p.Glu132Lys) single nucleotide variant Inborn genetic diseases [RCV002945079] Chr11:30012285 [GRCh38]
Chr11:30033832 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1563C>T (p.Thr521=) single nucleotide variant not provided [RCV003222719] Chr11:30011116 [GRCh38]
Chr11:30032663 [GRCh37]
Chr11:11p14.1		 likely benign
NM_002233.4(KCNA4):c.1921A>C (p.Asn641His) single nucleotide variant Inborn genetic diseases [RCV003208997] Chr11:30010758 [GRCh38]
Chr11:30032305 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1020G>A (p.Met340Ile) single nucleotide variant Inborn genetic diseases [RCV003208341] Chr11:30011659 [GRCh38]
Chr11:30033206 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.1094C>G (p.Thr365Arg) single nucleotide variant Inborn genetic diseases [RCV003359712] Chr11:30011585 [GRCh38]
Chr11:30033132 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.260G>A (p.Arg87Gln) single nucleotide variant Inborn genetic diseases [RCV003348240] Chr11:30012419 [GRCh38]
Chr11:30033966 [GRCh37]
Chr11:11p14.1		 uncertain significance
NM_002233.4(KCNA4):c.177G>T (p.Gly59=) single nucleotide variant not provided [RCV003390030] Chr11:30012502 [GRCh38]
Chr11:30034049 [GRCh37]
Chr11:11p14.1		 likely benign
NM_002233.4(KCNA4):c.1743G>A (p.Gln581=) single nucleotide variant not provided [RCV003394794] Chr11:30010936 [GRCh38]
Chr11:30032483 [GRCh37]
Chr11:11p14.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:583
Count of miRNA genes:443
Interacting mature miRNAs:485
Transcripts:ENST00000328224, ENST00000526518
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
PMC20269P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371130,033,709 - 30,034,225UniSTSGRCh37
Build 361129,990,285 - 29,990,801RGDNCBI36
Celera1130,179,772 - 30,180,288RGD
HuRef1129,726,082 - 29,726,598UniSTS
KCNA4_359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371130,031,906 - 30,032,751UniSTSGRCh37
Build 361129,988,482 - 29,989,327RGDNCBI36
Celera1130,177,969 - 30,178,814RGD
HuRef1129,724,279 - 29,725,124UniSTS
KCNA4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371130,032,119 - 30,032,265UniSTSGRCh37
Build 361129,988,695 - 29,988,841RGDNCBI36
Celera1130,178,182 - 30,178,328RGD
Cytogenetic Map11p14UniSTS
HuRef1129,724,492 - 29,724,638UniSTS
GeneMap99-GB4 RH Map11114.71UniSTS
D11S4337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371130,032,059 - 30,032,179UniSTSGRCh37
Build 361129,988,635 - 29,988,755RGDNCBI36
Celera1130,178,122 - 30,178,242RGD
Cytogenetic Map11p14UniSTS
HuRef1129,724,432 - 29,724,552UniSTS
Stanford-G3 RH Map111366.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11206.2UniSTS
GeneMap99-G3 RH Map111366.0UniSTS


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 6 22 1 2 2 189 3 10 2 32
Low 102 392 509 2 7 1 394 339 2133 29 122 367 1 1 542 187 2 1
Below cutoff 1793 1661 518 151 432 55 2959 1284 1274 163 917 768 98 601 1904

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328224   ⟹   ENSP00000328511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1130,009,730 - 30,017,030 (-)Ensembl
RefSeq Acc Id: ENST00000526518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1130,012,939 - 30,016,359 (-)Ensembl
RefSeq Acc Id: NM_002233   ⟹   NP_002224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381130,009,730 - 30,017,030 (-)NCBI
GRCh371130,031,288 - 30,038,577 (-)ENTREZGENE
Build 361129,988,341 - 29,995,064 (-)NCBI Archive
HuRef1129,723,661 - 29,730,948 (-)ENTREZGENE
CHM1_11130,030,186 - 30,037,475 (-)NCBI
T2T-CHM13v2.01130,143,826 - 30,151,124 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002224 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36140 (Get FASTA)   NCBI Sequence Viewer  
  AAA60034 (Get FASTA)   NCBI Sequence Viewer  
  AAA61275 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328511
  ENSP00000328511.6
GenBank Protein P22459 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002224   ⟸   NM_002233
- UniProtKB: P22459 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000328511   ⟸   ENST00000328224

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22459-F1-model_v2 AlphaFold P22459 1-653 view protein structure

Promoters
RGD ID:7219911
Promoter ID:EPDNEW_H15701
Type:initiation region
Name:KCNA4_1
Description:potassium voltage-gated channel subfamily A member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15702  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381130,016,989 - 30,017,049EPDNEW
RGD ID:7219913
Promoter ID:EPDNEW_H15702
Type:multiple initiation site
Name:KCNA4_2
Description:potassium voltage-gated channel subfamily A member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15701  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381130,017,111 - 30,017,171EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6222 AgrOrtholog
COSMIC KCNA4 COSMIC
Ensembl Genes ENSG00000182255 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328224 ENTREZGENE
  ENST00000328224.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  1.20.120.350 UniProtKB/Swiss-Prot
  1.20.5.600 UniProtKB/Swiss-Prot
GTEx ENSG00000182255 GTEx
HGNC ID HGNC:6222 ENTREZGENE
Human Proteome Map KCNA4 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_Kv1 UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv1.4 UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv1.4_TID UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv1.4_TID_sf 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:3739 UniProtKB/Swiss-Prot
NCBI Gene 3739 ENTREZGENE
OMIM 176266 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY A MEMBER 4 UniProtKB/Swiss-Prot
  PTHR11537 UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
  K_channel_TID UniProtKB/Swiss-Prot
PharmGKB PA207 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot
  KV14CHANNEL UniProtKB/Swiss-Prot
  KVCHANNEL UniProtKB/Swiss-Prot
  SHAKERCHANEL UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt KCNA4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNA4  potassium voltage-gated channel subfamily A member 4    potassium channel, voltage gated shaker related subfamily A, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNA4  potassium channel, voltage gated shaker related subfamily A, member 4    potassium voltage-gated channel, shaker-related subfamily, member 4  Symbol and/or name change 5135510 APPROVED