KCNV2 - potassium voltage-gated channel modifier subfamily V member 2 Gene
Also Known as Kv8.2; RCD3B; KV11.1
Species: Homo sapiens
About KCNV2
This gene has 1 transcript (splice variant), 255 orthologues, 31 paralogues and is associated with 4 phenotypes. Restricted expression toward testis (RPKM 2.7).
Summary
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 voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several Other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other Potassium Channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several Other tissues. [provided by RefSeq, Jul 2008]
KCNV2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_133497.4 | NP_598004.1 | potassium voltage-gated channel subfamily V member 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
KCNV2 Protein Structure
BTB_2: BTB/POZ domain (99 - 193)
Ion_trans: Ion transport protein (305 - 484)
- 0
- 100
- 200
- 300
- 400
- 500
- 545 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
potassium voltage-gated channel subfamily V member 2 |
|
KCNV2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
KCNV2 | Q8TDN2 | ANKRD28 | Homo sapiens | O15084 | 32296183 | |
|
Intra
|
KCNV2 | Q8TDN2 | ANKRD28 | Homo sapiens | O15084 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Retinal Cone Dystrophy 3b |
|
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| Cone Dystrophy |
|
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| Progressive Cone Dystrophy |
|
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| Stargardt Disease |
|
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| Stargardt Disease 1 |
|
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| Nervous System Disease |
|
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| Fundus Dystrophy |
|
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| Congenital Nervous System Abnormality |
|
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| Retinitis Pigmentosa 37 |
|
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| Acquired Night Blindness |
|
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| Night Blindness |
|
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| Occult Macular Dystrophy |
|
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| Cone-Rod Dystrophy 11 |
|
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| Retinoschisis 1, X-Linked, Juvenile |
|
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| Leber Congenital Amaurosis 16 |
|
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| Nephronophthisis 4 |
|
|
| Vertebral Artery Insufficiency |
|
|
| Episodic Pain Syndrome, Familial, 2 |
|
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| Episodic Ataxia, Type 1 |
|
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| Prolonged Electroretinal Response Suppression |
|
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| Achromatopsia |
|
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| Blue Cone Monochromacy |
|
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| Color Blindness |
|
|
| Vitelliform Macular Dystrophy |
|
|
| Cone-Rod Dystrophy 2 |
|
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| Congenital Stationary Night Blindness |
|
|
| Leber Plus Disease |
|
|
| Epilepsy, Myoclonic Juvenile |
|
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| Retinitis Pigmentosa |
|
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