KCNA6 (potassium voltage-gated channel subfamily A member 6) - Rat Genome Database

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Gene: KCNA6 (potassium voltage-gated channel subfamily A member 6) Homo sapiens
Analyze
Symbol: KCNA6
Name: potassium voltage-gated channel subfamily A member 6
RGD ID: 731012
HGNC Page HGNC:6225
Description: Enables delayed rectifier potassium channel activity. Involved in potassium ion transmembrane transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ25134; HBK2; human brain potassium channel-2; KV1.6; potassium channel, voltage gated shaker related subfamily A, member 6; potassium voltage-gated channel, shaker-related subfamily, member 6; PPP1R96; voltage-gated potassium channel HBK2; voltage-gated potassium channel protein Kv1.6; voltage-gated potassium channel subunit Kv1.6
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
GRCh38124,809,334 - 4,851,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,809,334 - 4,813,318 (+)EnsemblGRCh38hg38GRCh38
GRCh37124,918,500 - 4,960,278 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,788,603 - 4,792,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,788,602 - 4,792,839NCBI
Celera126,540,177 - 6,582,117 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,775,114 - 4,817,084 (+)NCBIHuRef
CHM1_1124,917,927 - 4,959,949 (+)NCBICHM1_1
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2347305   PMID:8821794   PMID:12477932   PMID:15489334   PMID:16382104   PMID:17207965   PMID:18162557   PMID:18474843   PMID:20379614   PMID:21873635   PMID:22939624   PMID:26186194  
PMID:27619418   PMID:28514442   PMID:32296183   PMID:33961781   PMID:36318112  


Genomics

Comparative Map Data
KCNA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38124,809,334 - 4,851,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,809,334 - 4,813,318 (+)EnsemblGRCh38hg38GRCh38
GRCh37124,918,500 - 4,960,278 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,788,603 - 4,792,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,788,602 - 4,792,839NCBI
Celera126,540,177 - 6,582,117 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,775,114 - 4,817,084 (+)NCBIHuRef
CHM1_1124,917,927 - 4,959,949 (+)NCBICHM1_1
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBIT2T-CHM13v2.0
Kcna6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396126,685,292 - 126,717,610 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6126,685,292 - 126,717,637 (-)EnsemblGRCm39 Ensembl
GRCm386126,708,328 - 126,740,834 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6126,708,329 - 126,740,674 (-)EnsemblGRCm38mm10GRCm38
MGSCv376126,658,347 - 126,690,692 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366126,702,307 - 126,705,772 (-)NCBIMGSCv36mm8
Celera6128,378,065 - 128,410,554 (-)NCBICelera
Cytogenetic Map6F3NCBI
cM Map661.72NCBI
Kcna6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84161,229,103 - 161,262,352 (-)NCBIGRCr8
mRatBN7.24159,542,941 - 159,576,189 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4159,542,615 - 159,576,189 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4165,772,732 - 165,805,991 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04161,555,642 - 161,588,899 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04160,189,668 - 160,222,923 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04159,253,934 - 159,287,193 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4159,253,934 - 159,287,193 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04232,324,385 - 232,357,644 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44163,087,398 - 163,125,320 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14163,366,297 - 163,369,040 (-)NCBI
Celera4148,259,785 - 148,292,606 (-)NCBICelera
Cytogenetic Map4q42NCBI
Kcna6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554132,614,685 - 2,676,292 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554132,614,685 - 2,676,292 (+)NCBIChiLan1.0ChiLan1.0
KCNA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21010,356,962 - 10,362,502 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11210,351,747 - 10,357,884 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0124,926,069 - 4,968,475 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1124,846,651 - 4,889,190 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl124,847,510 - 4,849,099 (+)Ensemblpanpan1.1panPan2
KCNA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12740,042,051 - 40,045,812 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2740,044,334 - 40,045,812 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha276,635,593 - 6,639,492 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02740,397,855 - 40,401,770 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2740,400,162 - 40,401,748 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12740,286,847 - 40,290,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02740,311,960 - 40,315,859 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0276,046,284 - 6,050,185 (+)NCBIUU_Cfam_GSD_1.0
Kcna6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945104,211,782 - 104,214,883 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366064,969,787 - 4,971,446 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366064,969,282 - 4,972,383 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl565,657,225 - 65,658,835 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1565,625,581 - 65,659,557 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2567,830,814 - 67,865,506 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1114,853,706 - 4,894,406 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl114,854,570 - 4,856,162 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660633,352,889 - 3,393,600 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcna6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248601,835,685 - 1,867,104 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248601,835,679 - 1,867,606 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNA6
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3 copy number gain See cases [RCV000051954] Chr12:4832052..5947324 [GRCh38]
Chr12:4941218..6056490 [GRCh37]
Chr12:4811479..5926751 [NCBI36]
Chr12:12p13.32-13.31		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_002235.3(KCNA6):c.1540C>T (p.Pro514Ser) single nucleotide variant Malignant melanoma [RCV000070018] Chr12:4811581 [GRCh38]
Chr12:4920747 [GRCh37]
Chr12:4791008 [NCBI36]
Chr12:12p13.32		 not provided
NM_002235.3(KCNA6):c.703C>T (p.His235Tyr) single nucleotide variant Malignant melanoma [RCV000062517] Chr12:4810744 [GRCh38]
Chr12:4919910 [GRCh37]
Chr12:4790171 [NCBI36]
Chr12:12p13.32		 not provided
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1 copy number loss Breast ductal adenocarcinoma [RCV000207062] Chr12:4772521..5854093 [GRCh38]
Chr12:4881687..5963259 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
chr12:4920767-5603935 complex variant complex Breast ductal adenocarcinoma [RCV000207328] Chr12:4920767..5603935 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3 copy number gain See cases [RCV000239919] Chr12:4872405..5347944 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_002235.5(KCNA6):c.76G>C (p.Gly26Arg) single nucleotide variant Inborn genetic diseases [RCV003268247] Chr12:4810117 [GRCh38]
Chr12:4919283 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1 copy number loss See cases [RCV000511740] Chr12:3256714..4980727 [GRCh37]
Chr12:12p13.33-13.32		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1 copy number loss not provided [RCV000683465] Chr12:4305058..6066141 [GRCh37]
Chr12:12p13.32-13.31		 likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.32(chr12:4930100-4954591)x1 copy number loss not provided [RCV000750262] Chr12:4930100..4954591 [GRCh37]
Chr12:12p13.32		 benign
NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly) single nucleotide variant Esophageal atresia [RCV000984663] Chr12:4810274 [GRCh38]
Chr12:4919440 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.32(chr12:3619010-5221363) copy number loss Global developmental delay [RCV001352670] Chr12:3619010..5221363 [GRCh37]
Chr12:12p13.32		 pathogenic
NC_000012.11:g.(?_4479509)_(6235003_?)dup duplication Episodic ataxia type 1 [RCV001294847] Chr12:4479509..6235003 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
NC_000012.11:g.(?_4481740)_(6076855_?)dup duplication not provided [RCV001944242] Chr12:4481740..6076855 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_002235.5(KCNA6):c.781G>C (p.Asp261His) single nucleotide variant not provided [RCV003123220] Chr12:4810822 [GRCh38]
Chr12:4919988 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.1126C>G (p.Leu376Val) single nucleotide variant not provided [RCV003120467] Chr12:4811167 [GRCh38]
Chr12:4920333 [GRCh37]
Chr12:12p13.32		 uncertain significance
NC_000012.11:g.(?_4368352)_(5155155_?)dup duplication Episodic ataxia type 1 [RCV003122188] Chr12:4368352..5155155 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp) single nucleotide variant Epicanthus [RCV003128370] Chr12:4811408 [GRCh38]
Chr12:4920574 [GRCh37]
Chr12:12p13.32		 likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_002235.5(KCNA6):c.643T>G (p.Ser215Ala) single nucleotide variant Inborn genetic diseases [RCV002731670] Chr12:4810684 [GRCh38]
Chr12:4919850 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.1292T>C (p.Met431Thr) single nucleotide variant Inborn genetic diseases [RCV002882622] Chr12:4811333 [GRCh38]
Chr12:4920499 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.19C>T (p.Leu7Phe) single nucleotide variant Inborn genetic diseases [RCV002662050] Chr12:4810060 [GRCh38]
Chr12:4919226 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.1469G>A (p.Arg490Lys) single nucleotide variant Inborn genetic diseases [RCV003000389] Chr12:4811510 [GRCh38]
Chr12:4920676 [GRCh37]
Chr12:12p13.32		 likely benign
NM_002235.5(KCNA6):c.448C>T (p.Pro150Ser) single nucleotide variant Inborn genetic diseases [RCV002916645] Chr12:4810489 [GRCh38]
Chr12:4919655 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.46C>T (p.Arg16Cys) single nucleotide variant Inborn genetic diseases [RCV002673389] Chr12:4810087 [GRCh38]
Chr12:4919253 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_002235.5(KCNA6):c.1537C>T (p.Leu513Phe) single nucleotide variant Inborn genetic diseases [RCV003257675] Chr12:4811578 [GRCh38]
Chr12:4920744 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_002235.5(KCNA6):c.1372G>C (p.Val458Leu) single nucleotide variant not provided [RCV003332779] Chr12:4811413 [GRCh38]
Chr12:4920579 [GRCh37]
Chr12:12p13.32		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1 copy number loss not specified [RCV003986988] Chr12:2246103..5406692 [GRCh37]
Chr12:12p13.33-13.31		 likely pathogenic
GRCh37/hg19 12p13.32(chr12:4922894-5151998)x3 copy number gain not specified [RCV003986966] Chr12:4922894..5151998 [GRCh37]
Chr12:12p13.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2614
Count of miRNA genes:937
Interacting mature miRNAs:1113
Transcripts:ENST00000280684, ENST00000433855
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
STS-X17622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,920,922 - 4,921,175UniSTSGRCh37
Build 36124,791,183 - 4,791,436RGDNCBI36
Celera126,542,757 - 6,543,010RGD
Cytogenetic Map12p13UniSTS
HuRef124,777,694 - 4,777,947UniSTS
GeneMap99-GB4 RH Map1225.03UniSTS
NCBI RH Map1253.5UniSTS
HSC0CG102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,960,068 - 4,960,272UniSTSGRCh37
Build 36124,830,329 - 4,830,533RGDNCBI36
Celera126,581,907 - 6,582,111RGD
Cytogenetic Map12p13UniSTS
HuRef124,816,874 - 4,817,078UniSTS
GeneMap99-GB4 RH Map1225.03UniSTS
Whitehead-RH Map1261.4UniSTS
NCBI RH Map1253.5UniSTS
D12S1088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,930,559 - 4,930,776UniSTSGRCh37
Build 36124,800,820 - 4,801,037RGDNCBI36
Celera126,552,394 - 6,552,611RGD
Cytogenetic Map12p13UniSTS
HuRef124,787,339 - 4,787,556UniSTS
WI-19183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,921,820 - 4,922,072UniSTSGRCh37
Build 36124,792,081 - 4,792,333RGDNCBI36
Celera126,543,655 - 6,543,907RGD
Cytogenetic Map12p13UniSTS
HuRef124,778,592 - 4,778,844UniSTS
GeneMap99-GB4 RH Map1229.15UniSTS
Whitehead-RH Map1258.6UniSTS
NCBI RH Map1276.7UniSTS
D12S1179E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,960,071 - 4,960,217UniSTSGRCh37
Build 36124,830,332 - 4,830,478RGDNCBI36
Celera126,581,910 - 6,582,056RGD
Cytogenetic Map12p13UniSTS
HuRef124,816,877 - 4,817,023UniSTS
GeneMap99-GB4 RH Map1226.86UniSTS
MARC_16417-16418:1033404800:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,919,499 - 4,920,011UniSTSGRCh37
Build 36124,789,760 - 4,790,272RGDNCBI36
Celera126,541,334 - 6,541,846RGD
HuRef124,776,271 - 4,776,783UniSTS
UniSTS:482131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,919,165 - 4,920,841UniSTSGRCh37
Celera126,541,000 - 6,542,676UniSTS
HuRef124,775,937 - 4,777,613UniSTS


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 5 6 1 4 1 4 572 1 120 1 1
Low 1936 1636 431 83 452 1 2776 984 3024 9 517 221 86 1 972 1843 1
Below cutoff 328 1282 1055 360 812 279 1289 1134 18 199 601 1084 80 231 932 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI369246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000280684   ⟹   ENSP00000280684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,809,334 - 4,813,318 (+)Ensembl
RefSeq Acc Id: NM_002235   ⟹   NP_002226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,813,318 (+)NCBI
GRCh37124,918,342 - 4,961,093 (+)NCBI
Build 36124,788,603 - 4,792,839 (+)NCBI Archive
Celera126,540,177 - 6,582,117 (+)RGD
HuRef124,775,114 - 4,817,084 (+)ENTREZGENE
CHM1_1124,917,927 - 4,959,949 (+)NCBI
T2T-CHM13v2.0124,816,353 - 4,820,338 (+)NCBI
Sequence:
RefSeq Acc Id: NR_172523
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
RefSeq Acc Id: NR_172524
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
RefSeq Acc Id: NR_172525
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
RefSeq Acc Id: XM_017019270   ⟹   XP_016874759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019271   ⟹   XP_016874760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019272   ⟹   XP_016874761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,809,334 - 4,851,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371973   ⟹   XP_054227948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
RefSeq Acc Id: XM_054371974   ⟹   XP_054227949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
RefSeq Acc Id: XM_054371975   ⟹   XP_054227950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0124,816,353 - 4,858,155 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002226   ⟸   NM_002235
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874760   ⟸   XM_017019271
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874761   ⟸   XM_017019272
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874759   ⟸   XM_017019270
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000280684   ⟸   ENST00000280684
RefSeq Acc Id: XP_054227949   ⟸   XM_054371974
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227950   ⟸   XM_054371975
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227948   ⟸   XM_054371973
- Peptide Label: isoform X1
- UniProtKB: P17658 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17658-F1-model_v2 AlphaFold P17658 1-529 view protein structure

Promoters
RGD ID:6790144
Promoter ID:HG_KWN:14787
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000280684,   NM_002235,   UC001QNF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36124,788,471 - 4,788,971 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6225 AgrOrtholog
COSMIC KCNA6 COSMIC
Ensembl Genes ENSG00000130035 Ensembl
  ENSG00000151079 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000280684 ENTREZGENE
  ENST00000280684.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  1.20.120.350 UniProtKB/Swiss-Prot
GTEx ENSG00000130035 GTEx
  ENSG00000151079 GTEx
HGNC ID HGNC:6225 ENTREZGENE
Human Proteome Map KCNA6 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_Kv1.6 UniProtKB/Swiss-Prot
  KCNA6_BTB_POZ 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:3742 UniProtKB/Swiss-Prot
NCBI Gene 3742 ENTREZGENE
OMIM 176257 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot
  PTHR11537:SF104 UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PharmGKB PA30022 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot
  KV16CHANNEL 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 KCNA6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNA6  potassium voltage-gated channel subfamily A member 6    potassium channel, voltage gated shaker related subfamily A, member 6  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNA6  potassium channel, voltage gated shaker related subfamily A, member 6    potassium voltage-gated channel, shaker-related subfamily, member 6  Symbol and/or name change 5135510 APPROVED
2011-09-01 KCNA6  potassium voltage-gated channel, shaker-related subfamily, member 6  KCNA6  potassium voltage-gated channel, shaker-related subfamily, member 6  Symbol and/or name change 5135510 APPROVED