KCNH4 (potassium voltage-gated channel subfamily H member 4) - Rat Genome Database

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Gene: KCNH4 (potassium voltage-gated channel subfamily H member 4) Homo sapiens
Analyze
Symbol: KCNH4
Name: potassium voltage-gated channel subfamily H member 4
RGD ID: 733889
HGNC Page HGNC:6253
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 plasma membrane. Predicted to be part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BEC2; brain-specific eag-like channel 2; ELK channel 1; ELK1; ether-a-go-go K(+) channel family member; ether-a-go-go-like potassium channel 1; Kv12.3; potassium channel, voltage gated eag related subfamily H, member 4; potassium voltage-gated channel, subfamily H (eag-related), member 4; voltage-gated potassium channel subunit Kv12.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh381742,156,891 - 42,181,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,156,891 - 42,181,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,308,909 - 40,333,160 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,562,439 - 37,586,822 (-)NCBINCBI36Build 36hg18NCBI36
Build 341737,562,438 - 37,586,822NCBI
Celera1736,964,227 - 36,987,523 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,074,129 - 36,098,412 (-)NCBIHuRef
CHM1_11740,544,659 - 40,569,024 (-)NCBICHM1_1
T2T-CHM13v2.01743,013,376 - 43,037,630 (-)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:12890647   PMID:16382104   PMID:19913121   PMID:20628086   PMID:21873635   PMID:26503718   PMID:32393512   PMID:32513696   PMID:33961781   PMID:34857952  


Genomics

Comparative Map Data
KCNH4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,156,891 - 42,181,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,156,891 - 42,181,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,308,909 - 40,333,160 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,562,439 - 37,586,822 (-)NCBINCBI36Build 36hg18NCBI36
Build 341737,562,438 - 37,586,822NCBI
Celera1736,964,227 - 36,987,523 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,074,129 - 36,098,412 (-)NCBIHuRef
CHM1_11740,544,659 - 40,569,024 (-)NCBICHM1_1
T2T-CHM13v2.01743,013,376 - 43,037,630 (-)NCBIT2T-CHM13v2.0
Kcnh4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,631,204 - 100,650,941 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,631,202 - 100,650,768 (-)EnsemblGRCm39 Ensembl
GRCm3811100,740,378 - 100,760,115 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,740,376 - 100,759,942 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,601,692 - 100,621,092 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,557,693 - 100,575,695 (-)NCBIMGSCv36mm8
Celera11111,356,922 - 111,376,327 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.57NCBI
Kcnh4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81086,168,644 - 86,188,476 (-)NCBIGRCr8
mRatBN7.21085,668,332 - 85,688,166 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1085,668,337 - 85,688,158 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1090,704,832 - 90,724,673 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01090,183,647 - 90,203,518 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01085,576,570 - 85,596,400 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01088,645,341 - 88,667,447 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,647,575 - 88,667,345 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01088,441,734 - 88,461,598 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,677,981 - 89,697,799 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11089,692,350 - 89,712,169 (-)NCBI
Celera1084,383,783 - 84,403,601 (-)NCBICelera
Cytogenetic Map10q31NCBI
Kcnh4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,217,021 - 16,233,800 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,217,021 - 16,233,789 (-)NCBIChiLan1.0ChiLan1.0
KCNH4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21922,802,808 - 22,827,185 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11724,692,975 - 24,717,299 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01715,134,728 - 15,159,108 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11715,357,446 - 15,380,835 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,357,446 - 15,378,419 (+)Ensemblpanpan1.1panPan2
KCNH4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,734,519 - 20,752,571 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,734,450 - 20,751,274 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,195,546 - 20,213,631 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,453,317 - 21,471,395 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl921,453,504 - 21,471,395 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1920,238,622 - 20,256,699 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,505,729 - 20,523,821 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0920,608,782 - 20,626,863 (+)NCBIUU_Cfam_GSD_1.0
Kcnh4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560220,070,345 - 20,088,495 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649016,987,832 - 17,004,644 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649016,988,137 - 17,004,461 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,088,084 - 64,112,963 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,088,290 - 64,110,096 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607734,902,748 - 34,925,126 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnh4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247951,748,233 - 1,763,209 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247951,748,211 - 1,763,100 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNH4
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_012285.2(KCNH4):c.2842C>A (p.Leu948Ile) single nucleotide variant Malignant melanoma [RCV000071489] Chr17:42160252 [GRCh38]
Chr17:40312270 [GRCh37]
Chr17:37565796 [NCBI36]
Chr17:17q21.2
not provided
NM_012285.2(KCNH4):c.2815C>A (p.Pro939Thr) single nucleotide variant Malignant melanoma [RCV000071490] Chr17:42160279 [GRCh38]
Chr17:40312297 [GRCh37]
Chr17:37565823 [NCBI36]
Chr17:17q21.2
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_012285.3(KCNH4):c.317C>T (p.Ala106Val) single nucleotide variant Inborn genetic diseases [RCV003281847] Chr17:42178471 [GRCh38]
Chr17:40330489 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1088C>T (p.Thr363Met) single nucleotide variant Inborn genetic diseases [RCV003254214] Chr17:42171895 [GRCh38]
Chr17:40323913 [GRCh37]
Chr17:17q21.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_012285.3(KCNH4):c.3044C>T (p.Thr1015Met) single nucleotide variant Inborn genetic diseases [RCV003246174] Chr17:42160050 [GRCh38]
Chr17:40312068 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2564G>A (p.Arg855His) single nucleotide variant Inborn genetic diseases [RCV003244511] Chr17:42163248 [GRCh38]
Chr17:40315266 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2713A>G (p.Met905Val) single nucleotide variant Inborn genetic diseases [RCV003245678] Chr17:42160381 [GRCh38]
Chr17:40312399 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2763C>T (p.Ser921=) single nucleotide variant not provided [RCV000950263] Chr17:42160331 [GRCh38]
Chr17:40312349 [GRCh37]
Chr17:17q21.2
benign
NM_012285.3(KCNH4):c.1390+1G>A single nucleotide variant not provided [RCV002280214] Chr17:42170106 [GRCh38]
Chr17:40322124 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.182T>C (p.Met61Thr) single nucleotide variant Inborn genetic diseases [RCV003247395] Chr17:42178921 [GRCh38]
Chr17:40330939 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1532G>A (p.Arg511His) single nucleotide variant not provided [RCV001356555] Chr17:42169535 [GRCh38]
Chr17:40321553 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1181T>G (p.Leu394Arg) single nucleotide variant Inborn genetic diseases [RCV003300415] Chr17:42171802 [GRCh38]
Chr17:40323820 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2354C>G (p.Ala785Gly) single nucleotide variant Inborn genetic diseases [RCV003301668] Chr17:42163729 [GRCh38]
Chr17:40315747 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.3050A>G (p.His1017Arg) single nucleotide variant Inborn genetic diseases [RCV003303899] Chr17:42160044 [GRCh38]
Chr17:40312062 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.197G>A (p.Ser66Asn) single nucleotide variant Inborn genetic diseases [RCV002749782] Chr17:42178906 [GRCh38]
Chr17:40330924 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2392C>G (p.Pro798Ala) single nucleotide variant Inborn genetic diseases [RCV002753542] Chr17:42163691 [GRCh38]
Chr17:40315709 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2113C>T (p.Arg705Cys) single nucleotide variant Inborn genetic diseases [RCV002689021] Chr17:42164141 [GRCh38]
Chr17:40316159 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.100G>A (p.Ala34Thr) single nucleotide variant Inborn genetic diseases [RCV002865812] Chr17:42179003 [GRCh38]
Chr17:40331021 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1456T>C (p.Ser486Pro) single nucleotide variant Inborn genetic diseases [RCV002728319] Chr17:42169611 [GRCh38]
Chr17:40321629 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1268G>T (p.Arg423Leu) single nucleotide variant Inborn genetic diseases [RCV002779597] Chr17:42170229 [GRCh38]
Chr17:40322247 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.112C>T (p.Arg38Trp) single nucleotide variant Inborn genetic diseases [RCV002732601] Chr17:42178991 [GRCh38]
Chr17:40331009 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1498C>T (p.Arg500Cys) single nucleotide variant Inborn genetic diseases [RCV002992939] Chr17:42169569 [GRCh38]
Chr17:40321587 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1757G>A (p.Arg586His) single nucleotide variant Inborn genetic diseases [RCV002991015] Chr17:42166380 [GRCh38]
Chr17:40318398 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.280C>G (p.Arg94Gly) single nucleotide variant Inborn genetic diseases [RCV002777846] Chr17:42178823 [GRCh38]
Chr17:40330841 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2162C>T (p.Thr721Met) single nucleotide variant Inborn genetic diseases [RCV002926495] Chr17:42163921 [GRCh38]
Chr17:40315939 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.568G>A (p.Gly190Ser) single nucleotide variant Inborn genetic diseases [RCV002848551] Chr17:42178117 [GRCh38]
Chr17:40330135 [GRCh37]
Chr17:17q21.2
likely benign
NM_012285.3(KCNH4):c.1268G>A (p.Arg423His) single nucleotide variant Inborn genetic diseases [RCV002744565] Chr17:42170229 [GRCh38]
Chr17:40322247 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2444T>G (p.Leu815Arg) single nucleotide variant Inborn genetic diseases [RCV002641361] Chr17:42163639 [GRCh38]
Chr17:40315657 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1849G>C (p.Asp617His) single nucleotide variant Inborn genetic diseases [RCV002853989] Chr17:42165685 [GRCh38]
Chr17:40317703 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1373G>T (p.Cys458Phe) single nucleotide variant Inborn genetic diseases [RCV002827373] Chr17:42170124 [GRCh38]
Chr17:40322142 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2419C>T (p.Pro807Ser) single nucleotide variant Inborn genetic diseases [RCV002712861] Chr17:42163664 [GRCh38]
Chr17:40315682 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2264G>A (p.Arg755Gln) single nucleotide variant Inborn genetic diseases [RCV002965244] Chr17:42163819 [GRCh38]
Chr17:40315837 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.782G>A (p.Arg261Gln) single nucleotide variant Inborn genetic diseases [RCV002670593] Chr17:42176101 [GRCh38]
Chr17:40328119 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2953G>C (p.Glu985Gln) single nucleotide variant Inborn genetic diseases [RCV002655163] Chr17:42160141 [GRCh38]
Chr17:40312159 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.479G>T (p.Gly160Val) single nucleotide variant Inborn genetic diseases [RCV003181208] Chr17:42178206 [GRCh38]
Chr17:40330224 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.359T>C (p.Met120Thr) single nucleotide variant Inborn genetic diseases [RCV003209219] Chr17:42178429 [GRCh38]
Chr17:40330447 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1627A>G (p.Ile543Val) single nucleotide variant Inborn genetic diseases [RCV003282114] Chr17:42166510 [GRCh38]
Chr17:40318528 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2114G>A (p.Arg705His) single nucleotide variant Inborn genetic diseases [RCV003216898] Chr17:42164140 [GRCh38]
Chr17:40316158 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.1517G>A (p.Arg506Gln) single nucleotide variant Inborn genetic diseases [RCV003361084] Chr17:42169550 [GRCh38]
Chr17:40321568 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2254G>A (p.Ala752Thr) single nucleotide variant Inborn genetic diseases [RCV003386029] Chr17:42163829 [GRCh38]
Chr17:40315847 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.2030G>A (p.Arg677Gln) single nucleotide variant Inborn genetic diseases [RCV003354563] Chr17:42165504 [GRCh38]
Chr17:40317522 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012285.3(KCNH4):c.690C>T (p.Asp230=) single nucleotide variant not provided [RCV003413233] Chr17:42176193 [GRCh38]
Chr17:40328211 [GRCh37]
Chr17:17q21.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1068
Count of miRNA genes:338
Interacting mature miRNAs:377
Transcripts:ENST00000264661, ENST00000607371
Prediction methods:Microtar, 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
D17S1138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,324,508 - 40,324,683UniSTSGRCh37
Build 361737,578,034 - 37,578,209RGDNCBI36
Celera1736,978,733 - 36,978,910RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,089,622 - 36,089,799UniSTS
D17S1245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,326,645 - 40,326,767UniSTSGRCh37
Build 361737,580,171 - 37,580,293RGDNCBI36
Celera1736,980,872 - 36,980,994RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,091,761 - 36,091,883UniSTS
D6S2066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,308,644 - 40,308,789UniSTSGRCh37
Build 361737,562,170 - 37,562,315RGDNCBI36
Celera1736,963,961 - 36,964,106RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,073,863 - 36,074,008UniSTS
GeneMap99-G3 RH Map172176.0UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 2 249 7 3 29
Low 254 100 254 47 631 44 818 97 1746 59 638 150 5 722 250
Below cutoff 2122 2759 1366 493 1194 341 3456 2032 1703 284 752 1347 159 481 2478 2 1

Sequence


RefSeq Acc Id: ENST00000264661   ⟹   ENSP00000264661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,156,891 - 42,181,142 (-)Ensembl
RefSeq Acc Id: ENST00000607371   ⟹   ENSP00000475564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,156,891 - 42,181,081 (-)Ensembl
RefSeq Acc Id: NM_012285   ⟹   NP_036417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,156,891 - 42,181,142 (-)NCBI
GRCh371740,308,910 - 40,333,296 (-)RGD
Build 361737,562,439 - 37,586,822 (-)NCBI Archive
Celera1736,964,227 - 36,987,523 (-)RGD
HuRef1736,074,129 - 36,098,412 (-)ENTREZGENE
CHM1_11740,544,659 - 40,569,024 (-)NCBI
T2T-CHM13v2.01743,013,376 - 43,037,630 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_036417 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAA83592 (Get FASTA)   NCBI Sequence Viewer  
  EAW60809 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264661
  ENSP00000264661.2
  ENSP00000475564.1
GenBank Protein Q9UQ05 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036417   ⟸   NM_012285
- UniProtKB: Q9UQ05 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000264661   ⟸   ENST00000264661
RefSeq Acc Id: ENSP00000475564   ⟸   ENST00000607371
Protein Domains
PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQ05-F1-model_v2 AlphaFold Q9UQ05 1-1017 view protein structure

Promoters
RGD ID:6794234
Promoter ID:HG_KWN:26175
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_012285
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,586,606 - 37,587,106 (-)MPROMDB
RGD ID:7235063
Promoter ID:EPDNEW_H23277
Type:initiation region
Name:KCNH4_1
Description:potassium voltage-gated channel subfamily H member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,181,300 - 42,181,360EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6253 AgrOrtholog
COSMIC KCNH4 COSMIC
Ensembl Genes ENSG00000089558 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264661 ENTREZGENE
  ENST00000264661.4 UniProtKB/Swiss-Prot
  ENST00000607371.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1200.260 UniProtKB/Swiss-Prot
  1.10.287.70 UniProtKB/Swiss-Prot
  2.60.120.10 UniProtKB/Swiss-Prot
  PAS domain UniProtKB/Swiss-Prot
GTEx ENSG00000089558 GTEx
HGNC ID HGNC:6253 ENTREZGENE
Human Proteome Map KCNH4 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot
  K_chnl_volt-dep_ELK UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
  PAS-assoc_C UniProtKB/Swiss-Prot
  PAS-like_dom_sf UniProtKB/Swiss-Prot
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
KEGG Report hsa:23415 UniProtKB/Swiss-Prot
NCBI Gene 23415 ENTREZGENE
OMIM 604528 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY H MEMBER 4 UniProtKB/Swiss-Prot
  VOLTAGE AND LIGAND GATED POTASSIUM CHANNEL UniProtKB/Swiss-Prot
Pfam Ion_trans UniProtKB/Swiss-Prot
  PAS_9 UniProtKB/Swiss-Prot
PharmGKB PA30039 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot
  ELKCHANNEL UniProtKB/Swiss-Prot
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
SMART cNMP UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot
  SSF55785 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt KCNH4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH4  potassium voltage-gated channel subfamily H member 4  KCNH4  potassium channel, voltage gated eag related subfamily H, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH4  potassium channel, voltage gated eag related subfamily H, member 4  KCNH4  potassium voltage-gated channel, subfamily H (eag-related), member 4  Symbol and/or name change 5135510 APPROVED