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Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
KCNH7 (Potassium Voltage-Gated Channel Subfamily H Member 7) is a Protein Coding gene. Diseases associated with KCNH7 include Pseudohypoaldosteronism, Type I, Autosomal Recessive. Among its related pathways are Potassium Channels and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH2.
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.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J162838 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.2 | 216 | 3.2 | POLR2A EZH2 RAD21 ZNF335 SMARCA4 | HSALNG0020049 KCNH7 KCNH7-AS1 GCA | |
GH02J162722 | Enhancer | 0.3 | FANTOM5 | 6.1 | +116.2 | 116168 | 0.4 | MAFK | KCNH7 KCNH7-AS1 piR-31199-183 GCA | |
GH02J162621 | Enhancer | 0.2 | FANTOM5 | 2 | +217.3 | 217342 | 0.4 | KCNH7 piR-31199-183 KCNH7-AS1 GCA | ||
GH02J162366 | Enhancer | 0.2 | FANTOM5 | 1.5 | +472.3 | 472308 | 0.1 | MN297732 GCA KCNH7 RF00998-078 | ||
GH02J162821 | Enhancer | 0.6 | ENCODE | 0.4 | +17.3 | 17250 | 0.9 | FOXA1 CTBP1 ESRRA ZNF217 MBD2 GATA3 DPF2 FOS RAD21 TCF7L2 | KCNH7 KCNH7-AS1 GCA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005249 | voltage-gated potassium channel activity | IEA,IBA | 21873635 |
GO:0005267 | potassium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Potassium Channels | ||
2 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
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3 | Transmission across Chemical Synapses |
.62
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4 | Circadian rythm related genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0034220 | ion transmembrane transport | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0042391 | regulation of membrane potential | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Doxazosin | Approved | Pharma | Target, inhibitor | 67 | ||
Ibutilide | Approved | Pharma | Target, inhibitor | 8 | ||
Miconazole | Approved, Investigational, Vet_approved | Pharma | Channel blocker, Pore Blocker, Antagonist, Target, inhibitor | 3024 | ||
Terazosin | Approved | Pharma | Target, inhibitor | α1-adrenergic receptor antagonist | 27 | |
Amiodarone | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor | 138 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
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 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNH7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNH7 31 |
|
OneToOne | |
LOC534542 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | KCNH7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNH7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNH7 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcnh7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnh7 30 |
|
||
Chicken (Gallus gallus) |
Aves | KCNH7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNH7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnh7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-240h6.1 30 |
|
||
kcnh1a 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007709 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | sei 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-103 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | KAT1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0245800 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12709 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781821 | Benign: not provided | 162,517,926(-) | G/A | SYNONYMOUS_VARIANT | |
782086 | Benign: not provided | 162,394,477(-) | G/A | SYNONYMOUS_VARIANT | |
798027 | Likely Benign: not provided | 162,504,486(-) | T/C | MISSENSE_VARIANT | |
798028 | Likely Benign: not provided | 162,517,734(-) | G/A | SYNONYMOUS_VARIANT | |
798931 | Likely Benign: not provided | 162,504,563(-) | A/G | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudohypoaldosteronism, type i, autosomal recessive |
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