KCNH3 (potassium voltage-gated channel subfamily H member 3) - Rat Genome Database

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Gene: KCNH3 (potassium voltage-gated channel subfamily H member 3) Homo sapiens
Analyze
Symbol: KCNH3
Name: potassium voltage-gated channel subfamily H member 3
RGD ID: 733984
HGNC Page HGNC:6252
Description: Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport and regulation of membrane potential. Predicted to be located in membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BEC1; brain-specific eag-like channel 1; ELK channel 2; ELK2; ether-a-go-go K(+) channel family member; ether-a-go-go-like potassium channel 2; KIAA1282; Kv12.2; potassium channel, voltage gated eag related subfamily H, member 3; potassium voltage-gated channel, subfamily H (eag-related), member 3; voltage-gated potassium channel subunit Kv12.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,539,030 - 49,558,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,539,030 - 49,558,337 (+)EnsemblGRCh38hg38GRCh38
GRCh371249,932,813 - 49,952,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361248,219,207 - 48,238,344 (+)NCBINCBI36Build 36hg18NCBI36
Build 341248,219,206 - 48,238,344NCBI
Celera1248,727,399 - 48,746,536 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,963,792 - 46,982,929 (+)NCBIHuRef
CHM1_11249,899,177 - 49,918,314 (+)NCBICHM1_1
T2T-CHM13v2.01249,501,276 - 49,520,593 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. New ether-a-go-go K(+) channel family members localized in human telencephalon. Miyake A, etal., J Biol Chem 1999 Aug 27;274(35):25018-25.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574462   PMID:12477932   PMID:12890647   PMID:16382104   PMID:19923296   PMID:20638388   PMID:21873635   PMID:26503718   PMID:30021884   PMID:34857952   PMID:35748872   PMID:36724073  


Genomics

Comparative Map Data
KCNH3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,539,030 - 49,558,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,539,030 - 49,558,337 (+)EnsemblGRCh38hg38GRCh38
GRCh371249,932,813 - 49,952,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361248,219,207 - 48,238,344 (+)NCBINCBI36Build 36hg18NCBI36
Build 341248,219,206 - 48,238,344NCBI
Celera1248,727,399 - 48,746,536 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,963,792 - 46,982,929 (+)NCBIHuRef
CHM1_11249,899,177 - 49,918,314 (+)NCBICHM1_1
T2T-CHM13v2.01249,501,276 - 49,520,593 (+)NCBIT2T-CHM13v2.0
Kcnh3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391599,122,396 - 99,140,699 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1599,122,742 - 99,140,698 (+)EnsemblGRCm39 Ensembl
GRCm381599,224,517 - 99,242,818 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1599,224,861 - 99,242,817 (+)EnsemblGRCm38mm10GRCm38
MGSCv371599,055,407 - 99,073,248 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361599,053,010 - 99,070,851 (+)NCBIMGSCv36mm8
Celera15101,380,704 - 101,398,527 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1556.08NCBI
Kcnh3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87132,244,492 - 132,262,725 (+)NCBIGRCr8
mRatBN7.27130,365,593 - 130,383,859 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7130,366,011 - 130,383,855 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7132,175,921 - 132,193,832 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07134,401,498 - 134,419,411 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07134,314,005 - 134,331,921 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07140,788,987 - 140,910,426 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,788,987 - 140,910,422 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,293,665 - 115,414,780 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,984,618 - 138,002,553 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17138,061,054 - 138,078,990 (+)NCBI
Celera7126,849,591 - 126,866,683 (+)NCBICelera
Cytogenetic Map7q36NCBI
Kcnh3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955547163,130 - 180,792 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955547163,130 - 180,792 (+)NCBIChiLan1.0ChiLan1.0
KCNH3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21044,626,399 - 44,645,958 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11244,623,175 - 44,642,718 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,192,912 - 39,212,472 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,083,642 - 40,102,585 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,083,642 - 40,102,579 (-)Ensemblpanpan1.1panPan2
KCNH3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,085,474 - 5,102,081 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,085,835 - 5,100,974 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2741,156,843 - 41,173,389 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,134,286 - 5,150,806 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,134,297 - 5,151,278 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,100,122 - 5,116,413 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,089,681 - 5,106,235 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,550,557 - 41,567,110 (+)NCBIUU_Cfam_GSD_1.0
Kcnh3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494565,887,078 - 65,906,383 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365127,259,814 - 7,280,818 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365127,259,685 - 7,277,746 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl515,495,157 - 15,517,022 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1515,494,649 - 15,517,024 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNH3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,782,453 - 45,801,529 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,784,292 - 45,801,173 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037200,323,943 - 200,343,228 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnh3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248162,683,333 - 2,701,166 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248162,683,345 - 2,701,203 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNH3
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012284.1(KCNH3):c.1846C>T (p.Leu616=) single nucleotide variant Malignant melanoma [RCV000070019] Chr12:49550257 [GRCh38]
Chr12:49944040 [GRCh37]
Chr12:48230307 [NCBI36]
Chr12:12q13.12		 not provided
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
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
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_012284.3(KCNH3):c.2786C>T (p.Ala929Val) single nucleotide variant Inborn genetic diseases [RCV003245539] Chr12:49557487 [GRCh38]
Chr12:49951270 [GRCh37]
Chr12:12q13.12		 uncertain significance
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
NM_012284.3(KCNH3):c.2578A>C (p.Ser860Arg) single nucleotide variant Inborn genetic diseases [RCV003248613] Chr12:49557185 [GRCh38]
Chr12:49950968 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.3088G>A (p.Ala1030Thr) single nucleotide variant Inborn genetic diseases [RCV003300506] Chr12:49557789 [GRCh38]
Chr12:49951572 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2395G>A (p.Ala799Thr) single nucleotide variant Inborn genetic diseases [RCV003248784] Chr12:49555878 [GRCh38]
Chr12:49949661 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.457C>T (p.Arg153Cys) single nucleotide variant Inborn genetic diseases [RCV003273813] Chr12:49542717 [GRCh38]
Chr12:49936500 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2129C>G (p.Ser710Cys) single nucleotide variant Inborn genetic diseases [RCV003266365] Chr12:49554547 [GRCh38]
Chr12:49948330 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
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-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_012284.3(KCNH3):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV000924741] Chr12:49544261 [GRCh38]
Chr12:49938044 [GRCh37]
Chr12:12q13.12		 benign
NM_012284.3(KCNH3):c.2004C>T (p.Cys668=) single nucleotide variant not provided [RCV000965235] Chr12:49554422 [GRCh38]
Chr12:49948205 [GRCh37]
Chr12:12q13.12		 benign
NM_012284.3(KCNH3):c.1919-9T>C single nucleotide variant not provided [RCV000924742] Chr12:49554328 [GRCh38]
Chr12:49948111 [GRCh37]
Chr12:12q13.12		 benign
NM_012284.3(KCNH3):c.1110C>T (p.Leu370=) single nucleotide variant not provided [RCV000885222] Chr12:49544303 [GRCh38]
Chr12:49938086 [GRCh37]
Chr12:12q13.12		 benign
NM_012284.3(KCNH3):c.2796C>T (p.Ser932=) single nucleotide variant not provided [RCV000910673] Chr12:49557497 [GRCh38]
Chr12:49951280 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
NM_012284.3(KCNH3):c.74C>T (p.Thr25Met) single nucleotide variant not provided [RCV001280696] Chr12:49539490 [GRCh38]
Chr12:49933273 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.939A>G (p.Ala313=) single nucleotide variant not provided [RCV001715222] Chr12:49544030 [GRCh38]
Chr12:49937813 [GRCh37]
Chr12:12q13.12		 benign
NM_012284.3(KCNH3):c.1295G>A (p.Ser432Asn) single nucleotide variant Inborn genetic diseases [RCV003253589] Chr12:49549000 [GRCh38]
Chr12:49942783 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1222A>T (p.Thr408Ser) single nucleotide variant Inborn genetic diseases [RCV002865937] Chr12:49548927 [GRCh38]
Chr12:49942710 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2777C>T (p.Pro926Leu) single nucleotide variant Inborn genetic diseases [RCV002753404] Chr12:49557478 [GRCh38]
Chr12:49951261 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.775G>A (p.Gly259Ser) single nucleotide variant Inborn genetic diseases [RCV002793972] Chr12:49543470 [GRCh38]
Chr12:49937253 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.736G>A (p.Val246Met) single nucleotide variant Inborn genetic diseases [RCV002754606] Chr12:49543431 [GRCh38]
Chr12:49937214 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2240A>C (p.Asp747Ala) single nucleotide variant Inborn genetic diseases [RCV002782956] Chr12:49555723 [GRCh38]
Chr12:49949506 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2740A>G (p.Arg914Gly) single nucleotide variant Inborn genetic diseases [RCV003000909] Chr12:49557441 [GRCh38]
Chr12:49951224 [GRCh37]
Chr12:12q13.12		 likely benign
NM_012284.3(KCNH3):c.484G>A (p.Gly162Ser) single nucleotide variant Inborn genetic diseases [RCV002845581] Chr12:49542744 [GRCh38]
Chr12:49936527 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1798C>T (p.Pro600Ser) single nucleotide variant Inborn genetic diseases [RCV002821675] Chr12:49550209 [GRCh38]
Chr12:49943992 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2501C>T (p.Ser834Leu) single nucleotide variant Inborn genetic diseases [RCV002977073] Chr12:49556402 [GRCh38]
Chr12:49950185 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1073T>C (p.Val358Ala) single nucleotide variant Inborn genetic diseases [RCV002949899] Chr12:49544266 [GRCh38]
Chr12:49938049 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.640C>T (p.Pro214Ser) single nucleotide variant Inborn genetic diseases [RCV002703830] Chr12:49543335 [GRCh38]
Chr12:49937118 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1069G>A (p.Ala357Thr) single nucleotide variant Inborn genetic diseases [RCV002978948] Chr12:49544262 [GRCh38]
Chr12:49938045 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2887C>T (p.His963Tyr) single nucleotide variant Inborn genetic diseases [RCV003000910] Chr12:49557588 [GRCh38]
Chr12:49951371 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2315G>A (p.Arg772Gln) single nucleotide variant Inborn genetic diseases [RCV002916024] Chr12:49555798 [GRCh38]
Chr12:49949581 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1910C>T (p.Ala637Val) single nucleotide variant Inborn genetic diseases [RCV002743045] Chr12:49550321 [GRCh38]
Chr12:49944104 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1129G>A (p.Val377Ile) single nucleotide variant Inborn genetic diseases [RCV002787526] Chr12:49544322 [GRCh38]
Chr12:49938105 [GRCh37]
Chr12:12q13.12		 likely benign
NM_012284.3(KCNH3):c.2246C>T (p.Pro749Leu) single nucleotide variant Inborn genetic diseases [RCV002955553] Chr12:49555729 [GRCh38]
Chr12:49949512 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2333G>A (p.Arg778His) single nucleotide variant Inborn genetic diseases [RCV002718180] Chr12:49555816 [GRCh38]
Chr12:49949599 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.535G>A (p.Gly179Arg) single nucleotide variant Inborn genetic diseases [RCV002812324] Chr12:49542795 [GRCh38]
Chr12:49936578 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2498G>C (p.Gly833Ala) single nucleotide variant Inborn genetic diseases [RCV002648920] Chr12:49556399 [GRCh38]
Chr12:49950182 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1187T>C (p.Ile396Thr) single nucleotide variant Inborn genetic diseases [RCV002941749] Chr12:49544380 [GRCh38]
Chr12:49938163 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1256G>C (p.Gly419Ala) single nucleotide variant Inborn genetic diseases [RCV002677099] Chr12:49548961 [GRCh38]
Chr12:49942744 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2804T>A (p.Leu935Gln) single nucleotide variant Inborn genetic diseases [RCV002724666] Chr12:49557505 [GRCh38]
Chr12:49951288 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.3148G>A (p.Gly1050Ser) single nucleotide variant Inborn genetic diseases [RCV003299662] Chr12:49557849 [GRCh38]
Chr12:49951632 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.3065A>G (p.Glu1022Gly) single nucleotide variant Inborn genetic diseases [RCV003196777] Chr12:49557766 [GRCh38]
Chr12:49951549 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.251G>A (p.Arg84His) single nucleotide variant Inborn genetic diseases [RCV003179450] Chr12:49541073 [GRCh38]
Chr12:49934856 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.2525G>A (p.Arg842His) single nucleotide variant Inborn genetic diseases [RCV003284684] Chr12:49556426 [GRCh38]
Chr12:49950209 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1168G>A (p.Glu390Lys) single nucleotide variant Inborn genetic diseases [RCV003344845] Chr12:49544361 [GRCh38]
Chr12:49938144 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1151G>A (p.Arg384Gln) single nucleotide variant Inborn genetic diseases [RCV003354964] Chr12:49544344 [GRCh38]
Chr12:49938127 [GRCh37]
Chr12:12q13.12		 likely benign
NM_012284.3(KCNH3):c.2645G>A (p.Arg882Gln) single nucleotide variant Inborn genetic diseases [RCV003362481] Chr12:49557252 [GRCh38]
Chr12:49951035 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.1649A>G (p.Asn550Ser) single nucleotide variant Inborn genetic diseases [RCV003367095] Chr12:49549621 [GRCh38]
Chr12:49943404 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.560G>A (p.Gly187Asp) single nucleotide variant Inborn genetic diseases [RCV003385001] Chr12:49542820 [GRCh38]
Chr12:49936603 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_012284.3(KCNH3):c.3146G>A (p.Gly1049Glu) single nucleotide variant Inborn genetic diseases [RCV003385096] Chr12:49557847 [GRCh38]
Chr12:49951630 [GRCh37]
Chr12:12q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1155
Count of miRNA genes:620
Interacting mature miRNAs:705
Transcripts:ENST00000257981, ENST00000548675, ENST00000550434, ENST00000551415
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
RH41888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,952,158 - 49,952,343UniSTSGRCh37
Build 361248,238,425 - 48,238,610RGDNCBI36
Celera1248,746,617 - 48,746,802RGD
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12q13UniSTS
HuRef1246,983,010 - 46,983,195UniSTS
GeneMap99-GB4 RH Map12220.22UniSTS
KCNH3_2115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,951,348 - 49,952,203UniSTSGRCh37
Build 361248,237,615 - 48,238,470RGDNCBI36
Celera1248,745,807 - 48,746,662RGD
HuRef1246,982,200 - 46,983,055UniSTS
MCRS1_9110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,952,075 - 49,952,499UniSTSGRCh37
Build 361248,238,342 - 48,238,766RGDNCBI36
Celera1248,746,534 - 48,746,958RGD
HuRef1246,982,927 - 46,983,351UniSTS
STS-F09935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,952,273 - 49,952,350UniSTSGRCh37
Build 361248,238,540 - 48,238,617RGDNCBI36
Celera1248,746,732 - 48,746,809RGD
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12q13UniSTS
HuRef1246,983,125 - 46,983,202UniSTS
GeneMap99-GB4 RH Map12219.46UniSTS
NCBI RH Map12447.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 9 196 318 5 203 5 13 2367 16 104 117 2
Low 1371 1328 1008 173 1320 75 1341 848 1071 225 1147 1315 105 341 823
Below cutoff 1038 1457 371 418 368 358 3003 1328 288 147 196 161 64 863 1962 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001314030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB022696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW248597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257981   ⟹   ENSP00000257981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,539,030 - 49,558,337 (+)Ensembl
RefSeq Acc Id: ENST00000548675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,556,172 - 49,557,637 (+)Ensembl
RefSeq Acc Id: ENST00000550434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,541,094 - 49,543,878 (+)Ensembl
RefSeq Acc Id: ENST00000551415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,544,254 - 49,546,240 (+)Ensembl
RefSeq Acc Id: ENST00000649994   ⟹   ENSP00000497890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,539,157 - 49,558,253 (+)Ensembl
RefSeq Acc Id: NM_001314030   ⟹   NP_001300959
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,539,030 - 49,558,337 (+)NCBI
CHM1_11249,899,177 - 49,918,332 (+)NCBI
T2T-CHM13v2.01249,501,276 - 49,520,593 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012284   ⟹   NP_036416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,539,030 - 49,558,337 (+)NCBI
GRCh371249,932,834 - 49,952,091 (+)NCBI
Build 361248,219,207 - 48,238,344 (+)NCBI Archive
Celera1248,727,399 - 48,746,536 (+)RGD
HuRef1246,963,792 - 46,982,929 (+)RGD
CHM1_11249,899,177 - 49,918,332 (+)NCBI
T2T-CHM13v2.01249,501,276 - 49,520,593 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538085   ⟹   XP_011536387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,539,030 - 49,558,337 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428613   ⟹   XP_047284569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,539,030 - 49,554,443 (+)NCBI
RefSeq Acc Id: XM_054371580   ⟹   XP_054227555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01249,501,276 - 49,520,593 (+)NCBI
RefSeq Acc Id: XM_054371581   ⟹   XP_054227556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01249,501,276 - 49,516,699 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036416   ⟸   NM_012284
- Peptide Label: isoform 1
- UniProtKB: Q9UQ06 (UniProtKB/Swiss-Prot),   Q9ULD8 (UniProtKB/Swiss-Prot),   B9EK44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536387   ⟸   XM_011538085
- Peptide Label: isoform X1
- UniProtKB: B9EK44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300959   ⟸   NM_001314030
- Peptide Label: isoform 2
- UniProtKB: B9EK44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497890   ⟸   ENST00000649994
RefSeq Acc Id: ENSP00000257981   ⟸   ENST00000257981
RefSeq Acc Id: XP_047284569   ⟸   XM_047428613
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227555   ⟸   XM_054371580
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227556   ⟸   XM_054371581
- Peptide Label: isoform X2
Protein Domains
Cyclic nucleotide-binding   PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULD8-F1-model_v2 AlphaFold Q9ULD8 1-1083 view protein structure

Promoters
RGD ID:6790147
Promoter ID:HG_KWN:15562
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:NM_012284
Position:
Human AssemblyChrPosition (strand)Source
Build 361248,218,971 - 48,219,471 (+)MPROMDB
RGD ID:7223841
Promoter ID:EPDNEW_H17666
Type:initiation region
Name:KCNH3_1
Description:potassium voltage-gated channel subfamily H member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,539,122 - 49,539,182EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6252 AgrOrtholog
COSMIC KCNH3 COSMIC
Ensembl Genes ENSG00000135519 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257981 ENTREZGENE
  ENST00000257981.7 UniProtKB/Swiss-Prot
  ENST00000649994.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1200.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135519 GTEx
HGNC ID HGNC:6252 ENTREZGENE
Human Proteome Map KCNH3 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_ELK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-assoc_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23416 UniProtKB/Swiss-Prot
NCBI Gene 23416 ENTREZGENE
OMIM 604527 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY H MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE AND LIGAND GATED POTASSIUM CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30038 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ELKCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ITH0_HUMAN UniProtKB/TrEMBL
  B9EK44 ENTREZGENE, UniProtKB/TrEMBL
  KCNH3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UQ06 ENTREZGENE
UniProt Secondary Q9UQ06 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH3  potassium voltage-gated channel subfamily H member 3    potassium channel, voltage gated eag related subfamily H, member 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH3  potassium channel, voltage gated eag related subfamily H, member 3    potassium voltage-gated channel, subfamily H (eag-related), member 3  Symbol and/or name change 5135510 APPROVED