KCNH6 (potassium voltage-gated channel subfamily H member 6) - Rat Genome Database

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Gene: KCNH6 (potassium voltage-gated channel subfamily H member 6) Homo sapiens
Analyze
Symbol: KCNH6
Name: potassium voltage-gated channel subfamily H member 6
RGD ID: 737542
HGNC Page HGNC:18862
Description: Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in several processes, including potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell membrane repolarization. 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: eag related protein 2; eag-related gene member 2; eag-related protein 2; ERG-2; ERG2; ether-a-go-go related gene potassium channel 2; ether-a-go-go-related gene potassium channel 2; ether-a-go-go-related protein 2; hERG-2; HERG2; Kv11.2; potassium channel, voltage gated eag related subfamily H, member 6; potassium voltage-gated channel, subfamily H (eag-related), member 6; voltage-gated potassium channel subunit Kv11.2
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
GRCh381763,523,358 - 63,548,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1763,523,334 - 63,548,977 (+)EnsemblGRCh38hg38GRCh38
GRCh371761,600,719 - 61,626,353 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361758,954,427 - 58,980,070 (+)NCBINCBI36Build 36hg18NCBI36
Build 341758,954,426 - 58,980,070NCBI
Celera1755,988,522 - 56,014,428 (+)NCBICelera
Cytogenetic Map17q23.3NCBI
HuRef1756,966,852 - 56,992,787 (+)NCBIHuRef
CHM1_11761,664,820 - 61,690,751 (+)NCBICHM1_1
T2T-CHM13v2.01764,393,673 - 64,419,606 (+)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

Cellular Component

Molecular Function

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:10414305   PMID:12477932   PMID:12634931   PMID:14702039   PMID:15203218   PMID:15489334   PMID:16344560   PMID:16382104   PMID:21048031   PMID:21873635   PMID:22412388   PMID:25783051  
PMID:26503718   PMID:30590050   PMID:34529278   PMID:34556670   PMID:34857952   PMID:35818223   PMID:36217412   PMID:37704626  


Genomics

Comparative Map Data
KCNH6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381763,523,358 - 63,548,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1763,523,334 - 63,548,977 (+)EnsemblGRCh38hg38GRCh38
GRCh371761,600,719 - 61,626,353 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361758,954,427 - 58,980,070 (+)NCBINCBI36Build 36hg18NCBI36
Build 341758,954,426 - 58,980,070NCBI
Celera1755,988,522 - 56,014,428 (+)NCBICelera
Cytogenetic Map17q23.3NCBI
HuRef1756,966,852 - 56,992,787 (+)NCBIHuRef
CHM1_11761,664,820 - 61,690,751 (+)NCBICHM1_1
T2T-CHM13v2.01764,393,673 - 64,419,606 (+)NCBIT2T-CHM13v2.0
Kcnh6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911105,898,871 - 105,926,421 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11105,898,950 - 105,925,375 (+)EnsemblGRCm39 Ensembl
GRCm3811106,008,044 - 106,035,595 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11106,008,124 - 106,034,549 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711105,869,517 - 105,895,378 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611105,824,293 - 105,850,154 (+)NCBIMGSCv36mm8
Celera11117,739,753 - 117,760,293 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1168.87NCBI
Kcnh6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81091,449,025 - 91,471,012 (+)NCBIGRCr8
mRatBN7.21090,949,240 - 90,970,746 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1090,949,846 - 90,970,701 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1096,003,974 - 96,025,091 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01095,467,143 - 95,488,263 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01090,878,334 - 90,899,206 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01094,207,336 - 94,228,236 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1094,207,314 - 94,228,236 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01093,958,627 - 93,979,152 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41095,400,862 - 95,421,678 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11095,421,300 - 95,436,048 (+)NCBI
Celera1089,628,057 - 89,648,511 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Kcnh6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554788,243,949 - 8,263,336 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554788,242,953 - 8,263,369 (-)NCBIChiLan1.0ChiLan1.0
KCNH6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21979,694,849 - 79,720,406 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11784,512,403 - 84,537,957 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01757,603,039 - 57,626,964 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11762,749,240 - 62,772,544 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1762,749,216 - 62,772,544 (+)Ensemblpanpan1.1panPan2
KCNH6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1911,538,506 - 11,559,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl911,538,205 - 11,559,319 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha912,498,958 - 12,519,775 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0913,201,806 - 13,222,832 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl913,201,609 - 13,222,833 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1912,146,396 - 12,167,428 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0915,364,422 - 15,385,338 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0915,367,399 - 15,388,227 (-)NCBIUU_Cfam_GSD_1.0
Kcnh6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560214,974,734 - 14,996,783 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365414,197,751 - 4,220,076 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365414,197,826 - 4,219,864 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1215,353,867 - 15,374,858 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11215,352,765 - 15,374,763 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21215,340,202 - 15,361,582 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNH6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11657,733,032 - 57,759,292 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1657,735,861 - 57,758,421 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607728,349,032 - 28,372,393 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnh6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248491,043,045 - 1,062,891 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248491,043,045 - 1,063,371 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNH6
61 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
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24		 pathogenic
NM_030779.3(KCNH6):c.771C>T (p.Ala257=) single nucleotide variant Malignant melanoma [RCV000071599] Chr17:63533981 [GRCh38]
Chr17:61611342 [GRCh37]
Chr17:58965074 [NCBI36]
Chr17:17q23.3		 not provided
NM_030779.3(KCNH6):c.1463C>T (p.Ser488Phe) single nucleotide variant Malignant melanoma [RCV000071600] Chr17:63536030 [GRCh38]
Chr17:61613391 [GRCh37]
Chr17:58967123 [NCBI36]
Chr17:17q23.3		 not provided
NM_030779.3(KCNH6):c.1464C>T (p.Ser488=) single nucleotide variant Malignant melanoma [RCV000071601] Chr17:63536031 [GRCh38]
Chr17:61613392 [GRCh37]
Chr17:58967124 [NCBI36]
Chr17:17q23.3		 not provided
NM_030779.3(KCNH6):c.2401G>A (p.Glu801Lys) single nucleotide variant Malignant melanoma [RCV000063272] Chr17:63544308 [GRCh38]
Chr17:61621669 [GRCh37]
Chr17:58975401 [NCBI36]
Chr17:17q23.3		 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 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 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_001278919.2(KCNH6):c.391G>T (p.Asp131Tyr) single nucleotide variant Inborn genetic diseases [RCV003295165] Chr17:63530174 [GRCh38]
Chr17:61607535 [GRCh37]
Chr17:17q23.3		 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
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 copy number gain not provided [RCV000752158] Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2		 pathogenic
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2		 pathogenic
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2		 pathogenic
NM_001278919.2(KCNH6):c.887C>G (p.Thr296Ser) single nucleotide variant Inborn genetic diseases [RCV003251711] Chr17:63534097 [GRCh38]
Chr17:61611458 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.882C>G (p.Ser294Arg) single nucleotide variant Inborn genetic diseases [RCV003251710] Chr17:63534092 [GRCh38]
Chr17:61611453 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.90G>T (p.Leu30=) single nucleotide variant not provided [RCV000967458] Chr17:63524152 [GRCh38]
Chr17:61601513 [GRCh37]
Chr17:17q23.3		 benign
NM_001278919.2(KCNH6):c.527G>A (p.Arg176Lys) single nucleotide variant not provided [RCV002224890] Chr17:63530394 [GRCh38]
Chr17:61607755 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1235C>T (p.Ala412Val) single nucleotide variant Inborn genetic diseases [RCV002683265] Chr17:63535802 [GRCh38]
Chr17:61613163 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2234-201A>G single nucleotide variant Inborn genetic diseases [RCV002945355] Chr17:63544048 [GRCh38]
Chr17:61621409 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2185C>T (p.Pro729Ser) single nucleotide variant Inborn genetic diseases [RCV002969299] Chr17:63543612 [GRCh38]
Chr17:61620973 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1472T>G (p.Val491Gly) single nucleotide variant Inborn genetic diseases [RCV002689279] Chr17:63536039 [GRCh38]
Chr17:61613400 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1201C>T (p.Leu401Phe) single nucleotide variant Inborn genetic diseases [RCV002865603] Chr17:63535768 [GRCh38]
Chr17:61613129 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1279C>T (p.Arg427Trp) single nucleotide variant Inborn genetic diseases [RCV002778127] Chr17:63535846 [GRCh38]
Chr17:61613207 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2006A>G (p.Lys669Arg) single nucleotide variant Inborn genetic diseases [RCV002865017] Chr17:63542292 [GRCh38]
Chr17:61619653 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1918G>A (p.Glu640Lys) single nucleotide variant Inborn genetic diseases [RCV002684260] Chr17:63538626 [GRCh38]
Chr17:61615987 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1617C>G (p.His539Gln) single nucleotide variant Inborn genetic diseases [RCV002731879] Chr17:63538180 [GRCh38]
Chr17:61615541 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1242G>T (p.Trp414Cys) single nucleotide variant Inborn genetic diseases [RCV002992437] Chr17:63535809 [GRCh38]
Chr17:61613170 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2435T>C (p.Leu812Ser) single nucleotide variant Inborn genetic diseases [RCV002817691] Chr17:63545116 [GRCh38]
Chr17:61622477 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1135C>T (p.Arg379Trp) single nucleotide variant Inborn genetic diseases [RCV002840148] Chr17:63535702 [GRCh38]
Chr17:61613063 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.692C>T (p.Ala231Val) single nucleotide variant Inborn genetic diseases [RCV002762368] Chr17:63533902 [GRCh38]
Chr17:61611263 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1972G>T (p.Gly658Trp) single nucleotide variant Inborn genetic diseases [RCV002849433] Chr17:63542258 [GRCh38]
Chr17:61619619 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1261G>A (p.Ala421Thr) single nucleotide variant Inborn genetic diseases [RCV002704064] Chr17:63535828 [GRCh38]
Chr17:61613189 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1508T>A (p.Met503Lys) single nucleotide variant Inborn genetic diseases [RCV002694130] Chr17:63538071 [GRCh38]
Chr17:61615432 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1267G>A (p.Gly423Ser) single nucleotide variant Inborn genetic diseases [RCV002869867] Chr17:63535834 [GRCh38]
Chr17:61613195 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2575C>T (p.Pro859Ser) single nucleotide variant Inborn genetic diseases [RCV002693190] Chr17:63545256 [GRCh38]
Chr17:61622617 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1513G>A (p.Ala505Thr) single nucleotide variant Inborn genetic diseases [RCV002826820] Chr17:63538076 [GRCh38]
Chr17:61615437 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2221G>A (p.Asp741Asn) single nucleotide variant Inborn genetic diseases [RCV002956734] Chr17:63543648 [GRCh38]
Chr17:61621009 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2182G>A (p.Ala728Thr) single nucleotide variant Inborn genetic diseases [RCV003004377] Chr17:63543609 [GRCh38]
Chr17:61620970 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2537C>T (p.Thr846Met) single nucleotide variant Inborn genetic diseases [RCV002987056] Chr17:63545218 [GRCh38]
Chr17:61622579 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1015G>A (p.Val339Ile) single nucleotide variant Inborn genetic diseases [RCV002893820] Chr17:63534225 [GRCh38]
Chr17:61611586 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.351C>G (p.Asn117Lys) single nucleotide variant Inborn genetic diseases [RCV002878382] Chr17:63530134 [GRCh38]
Chr17:61607495 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.772G>A (p.Val258Met) single nucleotide variant Inborn genetic diseases [RCV002670457] Chr17:63533982 [GRCh38]
Chr17:61611343 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2047C>T (p.His683Tyr) single nucleotide variant Inborn genetic diseases [RCV002855821] Chr17:63542333 [GRCh38]
Chr17:61619694 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.167G>A (p.Arg56Gln) single nucleotide variant Inborn genetic diseases [RCV002960288] Chr17:63524229 [GRCh38]
Chr17:61601590 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2005A>G (p.Lys669Glu) single nucleotide variant Inborn genetic diseases [RCV002963902] Chr17:63542291 [GRCh38]
Chr17:61619652 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2408G>A (p.Arg803His) single nucleotide variant Inborn genetic diseases [RCV002677559] Chr17:63545089 [GRCh38]
Chr17:61622450 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2206G>A (p.Gly736Ser) single nucleotide variant Inborn genetic diseases [RCV003184214] Chr17:63543633 [GRCh38]
Chr17:61620994 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1532T>C (p.Val511Ala) single nucleotide variant Inborn genetic diseases [RCV003178694] Chr17:63538095 [GRCh38]
Chr17:61615456 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2501A>G (p.Asn834Ser) single nucleotide variant Inborn genetic diseases [RCV003178872] Chr17:63545182 [GRCh38]
Chr17:61622543 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.919G>A (p.Val307Met) single nucleotide variant Inborn genetic diseases [RCV003189413] Chr17:63534129 [GRCh38]
Chr17:61611490 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.343G>A (p.Val115Met) single nucleotide variant Inborn genetic diseases [RCV003217256] Chr17:63530126 [GRCh38]
Chr17:61607487 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2024G>A (p.Arg675Gln) single nucleotide variant Inborn genetic diseases [RCV003196269] Chr17:63542310 [GRCh38]
Chr17:61619671 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.64T>C (p.Phe22Leu) single nucleotide variant Inborn genetic diseases [RCV003208624] Chr17:63523477 [GRCh38]
Chr17:61600838 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2041G>A (p.Asp681Asn) single nucleotide variant Inborn genetic diseases [RCV003177992] Chr17:63542327 [GRCh38]
Chr17:61619688 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.80G>A (p.Arg27Gln) single nucleotide variant Inborn genetic diseases [RCV003184971] Chr17:63524142 [GRCh38]
Chr17:61601503 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.986A>G (p.Glu329Gly) single nucleotide variant Inborn genetic diseases [RCV003282303] Chr17:63534196 [GRCh38]
Chr17:61611557 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1687A>G (p.Ile563Val) single nucleotide variant Inborn genetic diseases [RCV003178479] Chr17:63538250 [GRCh38]
Chr17:61615611 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2767T>C (p.Cys923Arg) single nucleotide variant Inborn genetic diseases [RCV003209429] Chr17:63545792 [GRCh38]
Chr17:61623153 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2173C>G (p.Pro725Ala) single nucleotide variant Inborn genetic diseases [RCV003361479] Chr17:63543600 [GRCh38]
Chr17:61620961 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2234-177G>A single nucleotide variant Inborn genetic diseases [RCV003369382] Chr17:63544072 [GRCh38]
Chr17:61621433 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1123T>A (p.Leu375Met) single nucleotide variant Inborn genetic diseases [RCV003354942] Chr17:63535690 [GRCh38]
Chr17:61613051 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1936G>C (p.Val646Leu) single nucleotide variant Inborn genetic diseases [RCV003381882] Chr17:63538644 [GRCh38]
Chr17:61616005 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1354G>A (p.Asp452Asn) single nucleotide variant Inborn genetic diseases [RCV003362037] Chr17:63535921 [GRCh38]
Chr17:61613282 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.117C>T (p.Cys39=) single nucleotide variant not provided [RCV003428399] Chr17:63524179 [GRCh38]
Chr17:61601540 [GRCh37]
Chr17:17q23.3		 likely benign
NM_001278919.2(KCNH6):c.705G>A (p.Pro235=) single nucleotide variant not provided [RCV003428400] Chr17:63533915 [GRCh38]
Chr17:61611276 [GRCh37]
Chr17:17q23.3		 likely benign
NM_001278919.2(KCNH6):c.1864G>C (p.Val622Leu) single nucleotide variant not provided [RCV003428401] Chr17:63538572 [GRCh38]
Chr17:61615933 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.1960A>C (p.Asn654His) single nucleotide variant Inborn genetic diseases [RCV003363447] Chr17:63542246 [GRCh38]
Chr17:61619607 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_001278919.2(KCNH6):c.2641A>G (p.Arg881Gly) single nucleotide variant Inborn genetic diseases [RCV003357863] Chr17:63545666 [GRCh38]
Chr17:61623027 [GRCh37]
Chr17:17q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2885
Count of miRNA genes:1039
Interacting mature miRNAs:1291
Transcripts:ENST00000314672, ENST00000456941, ENST00000580652, ENST00000581784, ENST00000583023, ENST00000583465
Prediction methods:Miranda, Pita, 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
SHGC-147277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,601,412 - 61,601,746UniSTSGRCh37
Build 361758,955,144 - 58,955,478RGDNCBI36
Celera1755,989,194 - 55,989,528RGD
Cytogenetic Map17q23.3UniSTS
HuRef1756,967,569 - 56,967,903UniSTS
TNG Radiation Hybrid Map1727271.0UniSTS
KCNH6_1541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,622,978 - 61,623,679UniSTSGRCh37
Build 361758,976,710 - 58,977,411RGDNCBI36
Celera1756,010,782 - 56,011,483RGD
HuRef1756,989,141 - 56,989,842UniSTS
sY3122  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map17p13.3UniSTS


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
High
Medium 37 102 2 36 2 104 34 86 55
Low 461 1 205 14 112 15 185 6 1402 201 583 272 1 1 3 3
Below cutoff 1520 1573 994 302 804 209 2536 1207 1941 109 525 1060 98 744 1593 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA825356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE465143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM561167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD632730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB147394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB506421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB577720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314672   ⟹   ENSP00000318212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,358 - 63,546,727 (+)Ensembl
RefSeq Acc Id: ENST00000456941   ⟹   ENSP00000396900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,334 - 63,546,032 (+)Ensembl
RefSeq Acc Id: ENST00000580652   ⟹   ENSP00000464672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,357 - 63,536,213 (+)Ensembl
RefSeq Acc Id: ENST00000581784   ⟹   ENSP00000463830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,334 - 63,548,977 (+)Ensembl
RefSeq Acc Id: ENST00000583023   ⟹   ENSP00000463533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,403 - 63,546,727 (+)Ensembl
RefSeq Acc Id: ENST00000583465   ⟹   ENSP00000462417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,523,359 - 63,546,076 (+)Ensembl
RefSeq Acc Id: NM_001278919   ⟹   NP_001265848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
GRCh371761,600,695 - 61,626,338 (+)NCBI
HuRef1756,966,852 - 56,992,787 (+)NCBI
CHM1_11761,664,820 - 61,688,216 (+)NCBI
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278920   ⟹   NP_001265849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
GRCh371761,600,695 - 61,626,338 (+)NCBI
HuRef1756,966,852 - 56,992,787 (+)NCBI
CHM1_11761,664,820 - 61,688,216 (+)NCBI
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030779   ⟹   NP_110406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
GRCh371761,600,695 - 61,626,338 (+)RGD
Build 361758,954,427 - 58,977,351 (+)NCBI Archive
Celera1755,988,522 - 56,014,428 (+)RGD
HuRef1756,966,852 - 56,992,787 (+)ENTREZGENE
CHM1_11761,664,820 - 61,688,216 (+)NCBI
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173092   ⟹   NP_775115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,548,992 (+)NCBI
GRCh371761,600,695 - 61,626,338 (+)RGD
Build 361758,954,427 - 58,980,070 (+)NCBI Archive
Celera1755,988,522 - 56,014,428 (+)RGD
HuRef1756,966,852 - 56,992,787 (+)ENTREZGENE
CHM1_11761,664,820 - 61,690,751 (+)NCBI
T2T-CHM13v2.01764,393,673 - 64,419,606 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525308   ⟹   XP_011523610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,545,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525309   ⟹   XP_011523611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,041 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525310   ⟹   XP_011523612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525311   ⟹   XP_011523613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,543,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525312   ⟹   XP_011523614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,543,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525313   ⟹   XP_011523615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,543,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025175   ⟹   XP_016880664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,548,992 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025176   ⟹   XP_016880665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025177   ⟹   XP_016880666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,548,992 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025178   ⟹   XP_016880667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025179   ⟹   XP_016880668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025180   ⟹   XP_016880669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436854   ⟹   XP_047292810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
RefSeq Acc Id: XM_047436855   ⟹   XP_047292811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
RefSeq Acc Id: XM_047436856   ⟹   XP_047292812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,546,727 (+)NCBI
RefSeq Acc Id: XM_054317425   ⟹   XP_054173400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,419,606 (+)NCBI
RefSeq Acc Id: XM_054317426   ⟹   XP_054173401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317427   ⟹   XP_054173402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,419,606 (+)NCBI
RefSeq Acc Id: XM_054317428   ⟹   XP_054173403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317429   ⟹   XP_054173404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317430   ⟹   XP_054173405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317431   ⟹   XP_054173406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,416,161 (+)NCBI
RefSeq Acc Id: XM_054317432   ⟹   XP_054173407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,416,370 (+)NCBI
RefSeq Acc Id: XM_054317433   ⟹   XP_054173408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317434   ⟹   XP_054173409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317435   ⟹   XP_054173410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,054 (+)NCBI
RefSeq Acc Id: XM_054317436   ⟹   XP_054173411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,417,056 (+)NCBI
RefSeq Acc Id: XM_054317437   ⟹   XP_054173412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,413,894 (+)NCBI
RefSeq Acc Id: XM_054317438   ⟹   XP_054173413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,413,894 (+)NCBI
RefSeq Acc Id: XM_054317439   ⟹   XP_054173414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,413,894 (+)NCBI
RefSeq Acc Id: XR_008484947
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01764,393,673 - 64,413,989 (+)NCBI
RefSeq Acc Id: XR_934568
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,523,358 - 63,543,660 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001265848 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265849 (Get FASTA)   NCBI Sequence Viewer  
  NP_110406 (Get FASTA)   NCBI Sequence Viewer  
  NP_775115 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523610 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523611 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523612 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523613 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523614 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523615 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880664 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880665 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880666 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880667 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880668 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880669 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292810 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292811 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173404 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173405 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173407 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173408 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173409 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173410 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173411 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173412 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173413 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173414 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG40871 (Get FASTA)   NCBI Sequence Viewer  
  AAH06334 (Get FASTA)   NCBI Sequence Viewer  
  BAC03559 (Get FASTA)   NCBI Sequence Viewer  
  BAC03764 (Get FASTA)   NCBI Sequence Viewer  
  BAG59132 (Get FASTA)   NCBI Sequence Viewer  
  BAG60605 (Get FASTA)   NCBI Sequence Viewer  
  EAW94308 (Get FASTA)   NCBI Sequence Viewer  
  EAW94309 (Get FASTA)   NCBI Sequence Viewer  
  EAW94310 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318212
  ENSP00000318212.5
  ENSP00000396900
  ENSP00000396900.2
  ENSP00000462417.1
  ENSP00000463533
  ENSP00000463533.1
  ENSP00000463830
  ENSP00000463830.1
  ENSP00000464672.1
GenBank Protein Q9H252 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775115   ⟸   NM_173092
- Peptide Label: isoform 2
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_110406   ⟸   NM_030779
- Peptide Label: isoform 1
- UniProtKB: Q9BRD7 (UniProtKB/Swiss-Prot),   Q9H252 (UniProtKB/Swiss-Prot),   B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265848   ⟸   NM_001278919
- Peptide Label: isoform 3
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL),   J9JID4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265849   ⟸   NM_001278920
- Peptide Label: isoform 4
- UniProtKB: B4DPJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523612   ⟸   XM_011525310
- Peptide Label: isoform X9
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523611   ⟸   XM_011525309
- Peptide Label: isoform X8
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523610   ⟸   XM_011525308
- Peptide Label: isoform X7
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523613   ⟸   XM_011525311
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011523614   ⟸   XM_011525312
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011523615   ⟸   XM_011525313
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016880666   ⟸   XM_017025177
- Peptide Label: isoform X3
- UniProtKB: J9JID4 (UniProtKB/TrEMBL),   B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880664   ⟸   XM_017025175
- Peptide Label: isoform X1
- UniProtKB: Q9BRD7 (UniProtKB/Swiss-Prot),   Q9H252 (UniProtKB/Swiss-Prot),   B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880665   ⟸   XM_017025176
- Peptide Label: isoform X2
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880667   ⟸   XM_017025178
- Peptide Label: isoform X4
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880668   ⟸   XM_017025179
- Peptide Label: isoform X5
- UniProtKB: B4DKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880669   ⟸   XM_017025180
- Peptide Label: isoform X12
- UniProtKB: B4DPJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000464672   ⟸   ENST00000580652
RefSeq Acc Id: ENSP00000463830   ⟸   ENST00000581784
RefSeq Acc Id: ENSP00000463533   ⟸   ENST00000583023
RefSeq Acc Id: ENSP00000462417   ⟸   ENST00000583465
RefSeq Acc Id: ENSP00000396900   ⟸   ENST00000456941
RefSeq Acc Id: ENSP00000318212   ⟸   ENST00000314672
RefSeq Acc Id: XP_047292812   ⟸   XM_047436856
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047292810   ⟸   XM_047436854
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047292811   ⟸   XM_047436855
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054173400   ⟸   XM_054317425
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173402   ⟸   XM_054317427
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173401   ⟸   XM_054317426
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173403   ⟸   XM_054317428
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054173404   ⟸   XM_054317429
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054173408   ⟸   XM_054317433
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054173405   ⟸   XM_054317430
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054173409   ⟸   XM_054317434
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054173411   ⟸   XM_054317436
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054173410   ⟸   XM_054317435
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054173407   ⟸   XM_054317432
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054173406   ⟸   XM_054317431
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173412   ⟸   XM_054317437
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054173413   ⟸   XM_054317438
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054173414   ⟸   XM_054317439
- Peptide Label: isoform X15
Protein Domains
Cyclic nucleotide-binding   PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H252-F1-model_v2 AlphaFold Q9H252 1-994 view protein structure

Promoters
RGD ID:7235953
Promoter ID:EPDNEW_H23722
Type:initiation region
Name:KCNH6_1
Description:potassium voltage-gated channel subfamily H member 6
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
GRCh381763,523,358 - 63,523,418EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18862 AgrOrtholog
COSMIC KCNH6 COSMIC
Ensembl Genes ENSG00000173826 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314672 ENTREZGENE
  ENST00000314672.10 UniProtKB/TrEMBL
  ENST00000456941 ENTREZGENE
  ENST00000456941.6 UniProtKB/Swiss-Prot
  ENST00000580652.5 UniProtKB/Swiss-Prot
  ENST00000581784 ENTREZGENE
  ENST00000581784.5 UniProtKB/Swiss-Prot
  ENST00000583023 ENTREZGENE
  ENST00000583023.1 UniProtKB/Swiss-Prot
  ENST00000583465.1 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 ENSG00000173826 GTEx
HGNC ID HGNC:18862 ENTREZGENE
Human Proteome Map KCNH6 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_ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS 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:81033 UniProtKB/Swiss-Prot
NCBI Gene 81033 ENTREZGENE
OMIM 608168 OMIM
PANTHER PTHR10217:SF468 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_8 UniProtKB/TrEMBL
  PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38722 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERGCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP 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 B4DKC0 ENTREZGENE, UniProtKB/TrEMBL
  B4DPJ3 ENTREZGENE, UniProtKB/TrEMBL
  J3KSC2_HUMAN UniProtKB/TrEMBL
  J9JID4 ENTREZGENE, UniProtKB/TrEMBL
  KCNH6_HUMAN UniProtKB/Swiss-Prot
  Q9BRD7 ENTREZGENE
  Q9H252 ENTREZGENE
UniProt Secondary Q9BRD7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH6  potassium voltage-gated channel subfamily H member 6  KCNH6  potassium channel, voltage gated eag related subfamily H, member 6  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH6  potassium channel, voltage gated eag related subfamily H, member 6  KCNH6  potassium voltage-gated channel, subfamily H (eag-related), member 6  Symbol and/or name change 5135510 APPROVED