1. Gene
  2. KCNV1 - potassium voltage-gated channel modifier subfamily V member 1 Gene

KCNV1 - potassium voltage-gated channel modifier subfamily V member 1 Gene

Homo sapiens

Also known as HNKA; KCNB3; KV2.3; KV8.1

Gene ID: 27012 | Gene type: protein coding

About KCNV1

Cytogenetic location: 8q23.2 Genomic coordinates (GRCh38): 8:109,963,636-109,975,771 (from NCBI)

This gene has 2 transcripts (splice variants), 193 orthologues and 31 paralogues. Restricted expression toward brain (RPKM 7.0).

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 protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier Potassium Channel types. [provided by RefSeq, Jul 2008]

KCNV1 Products(1)

mRNA Protein Name
NM_014379.4 NP_055194.1 potassium voltage-gated channel subfamily V member 1

KCNV1 Protein Structure

BTB_2

BTB_2: BTB/POZ domain (42 - 150)

Ion_trans

Ion_trans: Ion transport protein (244 - 427)

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Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily V member 1

neuronal potassium channel alpha subunit HNKA

Related Diseases

Diseases Alias
Atrial Septal Defect 5

ASD5

Atrial Heart Septal Defect 5

Septal Defect, Atrial, Type 5

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 1

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus KCNV1 VGNC VGNC:63050
Canis familiaris KCNV1 VGNC VGNC:42297
Bos taurus KCNV1 VGNC VGNC:30497
Macaca mulatta KCNV1 VGNC VGNC:73852
Mus musculus KCNV1 MGD MGI:1914748
Rattus norvegicus KCNV1 RGD RGD:621264