KCNA4 - potassium voltage-gated channel subfamily A member 4 Gene
Also Known as HK1; HBK4; PCN2; HPCN2; HUKII; KCNA8; KV1.4; KCNA4L; MCIDDS
Species: Homo sapiens
About KCNA4
This gene has 2 transcripts (splice variants), 178 orthologues, 31 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.8) and 4 other tissues.
Summary
Potassium 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. Four sequence-related Potassium Channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the Potassium Channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
KCNA4 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002233.4 | NP_002224.1 | potassium voltage-gated channel subfamily A member 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7477295 | GOA |
| enables voltage-gated potassium channel activity |
IDA
IDA: Inferred from direct assay
|
8495559 | GOA |
| enables voltage-gated potassium channel activity |
IMP
IMP: Inferred from mutant phenotype
|
19912772 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in potassium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
8495559 | GOA |
| involved in potassium ion transmembrane transport |
IMP
IMP: Inferred from mutant phenotype
|
19912772 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
8495559 | GOA |
| part of voltage-gated potassium channel complex |
IMP
IMP: Inferred from mutant phenotype
|
8495559 | GOA |
KCNA4 Protein Structure
K_channel_TID: Potassium channel Kv1.4 tandem inactivation domain (1 - 75)
BTB_2: BTB/POZ domain (178 - 266)
Ion_trans: Ion transport protein (373 - 559)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 653 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
potassium voltage-gated channel subfamily A member 4 |
|
KCNA4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
KCNA4 | P22459 | DLG1 | Homo sapiens | Q12959 | 33961781 | |
|
Cross
|
KCNA4 | P22459 | Dlg3 | Rattus norvegicus | Q62936 | 11937501 | |
|
Cross
|
KCNA4 | P22459 | Dlg3 | Rattus norvegicus | Q62936 | 11937501 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
|
| Episodic Ataxia, Type 1 |
|
|
| Diffuse Alopecia Areata |
|
|
| Episodic Ataxia, Type 4 |
|
|
| Episodic Ataxia, Type 3 |
|
|
| Episodic Ataxia, Type 7 |
|
|
| Episodic Ataxia, Type 8 |
|
|
| Episodic Ataxia, Type 5 |
|
|
| Diamond-Blackfan Anemia 3 |
|
|
| Cataract |
|
|
| Waardenburg Syndrome, Type 4c |
|
|
| Thymus Gland Disease |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Thymus Cancer |
|
|
| Episodic Ataxia |
|
|
| Long Qt Syndrome 1 |
|
|
| Dystonia |
|
|
| Long Qt Syndrome |
|
|
| Brugada Syndrome |
|
|
| Microcephaly |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | KCNA4 | VGNC | VGNC:42231 |
| Bos taurus | KCNA4 | VGNC | VGNC:30424 |
| Macaca mulatta | KCNA4 | VGNC | VGNC:110507 |
| Felis catus | KCNA4 | VGNC | VGNC:67893 |
| Rattus norvegicus | KCNA4 | RGD | RGD:2952 |
| Mus musculus | KCNA4 | MGD | MGI:96661 |
| Others | KCNA4 | NCBI |