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This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2) is a Protein Coding gene. Diseases associated with KCNH2 include Long Qt Syndrome 2 and Short Qt Syndrome 1. Among its related pathways are Cardiac conduction and Hematopoietic Stem Cell Differentiation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and obsolete signal transducer activity. An important paralog of this gene is KCNH7.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005242 | inward rectifier potassium channel activity | IDA,IMP | 14525949 |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005249 | voltage-gated potassium channel activity | IEA,IDA | 11953308 |
GO:0005251 | delayed rectifier potassium channel activity | IGI | 25281747 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IMP,TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0008076 | voltage-gated potassium channel complex | IMP | 25281747 |
GO:0009986 | cell surface | IDA | 21536673 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Potassium Channels | ||
3 | Glucose / Energy Metabolism | ||
4 | Antiarrhythmic Pathway, Pharmacodynamics | ||
5 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003064 | regulation of heart rate by hormone | TAS | 11953308 |
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0035690 | cellular response to drug | IDA | 7604285 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Astemizole | Approved, Withdrawn | Pharma | Pore Blocker, Inhibitor, Target, inhibitor, antagonist | 0 | ||
Terfenadine | Approved, Withdrawn | Pharma | Pore Blocker, Inhibitor, Target, inhibitor, antagonist | Histamine H1-receptor antagonist | 8 | |
Dofetilide | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor, blocker | 18 | ||
Quinidine | Approved, Investigational | Pharma | Pore Blocker, Inhibitor, Inhibition, Target, inhibitor | 57 | ||
Amiodarone | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor, blocker | 138 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
8-Hydroxycarvedilol |
|
|||||
O-Desmethylverapamil (D-702) |
|
|
||||
Kaliotoxin |
|
145199-73-1 |
|
|
Compound | Action | Cas Number |
---|---|---|
Chromanol 293B | IKs blocker. Also blocks ICFTR | 163163-23-3 |
Flupirtine maleate | KV7 channel activator | 75507-68-5 |
Kaliotoxin | KV and KCa blocker | 145199-73-1 |
MaxiPost | Potassium channel modulator; exerts subtype-specific effects | 187523-35-9 |
Compound | Action | Cas Number |
---|---|---|
(-)-[3R,4S]-Chromanol 293B | 163163-24-4 | |
1-EBIO | 10045-45-1 | |
4-Aminopyridine | potassium channel-blocking agent | 504-24-5 |
Agitoxin 2 | 168147-41-9 | |
AM 92016 hydrochloride | Potassium channel blocker | 133229-11-5 |
Amiodarone HCl | Anti-arrhythmic drug | 19774-82-4 |
Apamin | 24345-16-2 | |
Azimilide | 149908-53-2 | |
BDS I | ||
Charybdotoxin | 95751-30-7 | |
Chromanol 293B | 163163-23-3 | |
CP 339818 hydrochloride | 478341-55-8 | |
Cromakalim | 94470-67-4 | |
CyPPA | 73029-73-9 | |
Dofetilide | 115256-11-6 | |
DPO-1 | 43077-30-1 | |
Dronedarone | 141626-36-0 | |
Dronedarone HCl | Antiarrhythmic drugs | 141625-93-6 |
E-4031 dihydrochloride | 113559-13-0 | |
Gliclazide | 21187-98-4 | |
Glipizide | 29094-61-9 | |
GW 542573X | 660846-41-3 | |
Hydralazine HCl | 304-20-1 | |
Iberiotoxin | 129203-60-7 | |
ICA 069673 | 582323-16-8 | |
Indapamide | 26807-65-8 | |
L-364,373 | 103342-82-1 | |
Levcromakalim | 94535-50-9 | |
Linopirdine dihydrochloride | 113168-57-3 | |
Margatoxin | 145808-47-5 | |
MaxiPost | 187523-35-9 | |
Minoxidil | 38304-91-5 | |
Mitiglinide Calcium | 145525-41-3 | |
ML 213 | 489402-47-3 | |
ML 277 | 1401242-74-7 | |
ML133 HCl | Potassium channel inhibitor for Kir2.1 | 1222781-70-5 |
Nateglinide | Insulin secretagog agent | 105816-04-4 |
Nicorandil | Potassium channel activator | 65141-46-0 |
Nonactin | 6833-84-7 | |
NS 11021 | 956014-19-0 | |
NS 1619 | 153587-01-0 | |
NS 1643 | 448895-37-2 | |
NS 3623 | 343630-41-1 | |
NS 5806 | 426834-69-7 | |
NS309 | 18711-16-5 | |
P1075 | 60559-98-0 | |
PNU 37883 hydrochloride | 57568-80-6 | |
Quinidine | 56-54-2 | |
Repaglinide | Kir6 (KATP) channel blocker | 135062-02-1 |
Retigabine | Activator of voltage-gated potassium channel, an anticonvulsant agent | 150812-12-7 |
RuBi-4AP | 851956-02-0 | |
ShK-Dap22 | 220384-25-8 | |
SKA 31 | 40172-65-4 | |
Tertiapin LQ | ||
Tertiapin-Q | 252198-49-5 | |
Tetraethylammonium chloride | K+ channel blocker | 56-34-8 |
Tolbutamide | CAMP inhibitor | 64-77-7 |
Tolbutamide Sodium | 473-41-6 | |
TRAM-34 | KCa3.1 blocker,potent and highly selective | 289905-88-0 |
UCL 1684 | 199934-16-2 | |
UK 78282 hydrochloride | 136647-02-4 | |
Valinomycin | potassium-specific transporter | 2001-95-8 |
VU 591 hydrochloride | 1315380-70-1 | |
Y-26763 | 127408-31-5 | |
YS-035 hydrochloride | 89805-39-0 | |
ZM 226600 | 147695-92-9 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNH2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNH2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNH2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNH2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnh2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kcnh2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | LOC100858122 30 |
|
||
KCNH2 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | KCNH2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01076216.1 31 |
|
OneToMany | |
KCNH2 (4 of 5) 31 |
|
OneToMany | |||
kcnh2a 30 31 |
|
OneToMany | |||
kcnh6 31 |
|
OneToMany | |||
KCNH2 (2 of 5) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | sei 32 |
|
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637977 | Pathogenic: Long QT syndrome; Long QT syndrome 2 | 150,947,371(-) | C/CG | FRAMESHIFT_VARIANT | |
637978 | Uncertain Significance: Long QT syndrome 2 | 150,958,409(-) | C/A | MISSENSE_VARIANT | |
638156 | Pathogenic: Long QT syndrome 2 | 150,977,867(-) | TC/T | FRAMESHIFT_VARIANT | |
640022 | Pathogenic: Long QT syndrome | 150,950,308(-) | GC/G | FRAMESHIFT_VARIANT | |
640120 | Uncertain Significance: Long QT syndrome | 150,947,615(-) | G/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11721n54 | CNV | loss | 21841781 |
dgv3695n106 | OTHER | inversion | 24896259 |
esv2759574 | CNV | loss | 17122850 |
nsv1030109 | CNV | gain | 25217958 |
nsv1067934 | OTHER | inversion | 25765185 |
nsv1076015 | CNV | deletion | 25765185 |
nsv1119149 | CNV | deletion | 24896259 |
nsv1137595 | CNV | deletion | 24896259 |
nsv1151906 | OTHER | inversion | 26484159 |
nsv465213 | CNV | loss | 19166990 |
nsv608990 | CNV | gain | 21841781 |
nsv609002 | CNV | loss | 21841781 |
nsv8231 | CNV | gain | 18304495 |
nsv951648 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 2 |
|
|
short qt syndrome 1 |
|
|
familial short qt syndrome |
|
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long qt syndrome |
|
|
long qt syndrome 1 |
|