KCNV2 - potassium voltage-gated channel modifier subfamily V member 2 Gene

Homo sapiens

Also known as Kv8.2; RCD3B; KV11.1

Gene ID: 169522 | Gene type: protein coding

About KCNV2

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:2,717,510-2,730,037 (from NCBI)

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

KCNV2 Protein Structure

BTB_2

Ion_trans

0
100
200
300
400
500
545 a.a.

Protein Preferred Names

Protein Names

potassium voltage-gated channel subfamily V member 2

potassium channel, subfamily V, member 2

Related Diseases

Diseases

Alias

Retinal Cone Dystrophy 3b

RCD3B	Cone Dystrophy With Supernormal Rod Response
Cone Dystrophy With Supernormal Rod Electroretinogram	Cone Dystrophy With Supernormal Rod Responses
Cdsrr	Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related	Cone Dystrophy With Supernormal Rod Erg
Cone Dystrophy With Supernormal Scotopic Electroretinogram	Cone Dystrophy Retinal 3b
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related	Doid:0081022
Dystrophy, Retinal Cone, Type 3b

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Progressive Cone Dystrophy

Cone Dystrophy

Cone Dystrophy Progressive

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Stargardt Disease 1

Fundus Flavimaculatus	STGD1
Retinal Dystrophy, Early-Onset Severe	Macular Dystrophy With Flecks, Type 1
Stargardt'S Disease	Stgd
Macular Degeneration, Juvenile	Macular Degeneration Juvenile
FFM	Juvenile Macular Degeneration
Macular Dystrophy With Flecks Type 1	Early Onset And Severe Retinal Dystrophy

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa 37

RP37	Retinitis Pigmentosa-37
Retinitis Pigmentosa, Type 37

Acquired Night Blindness

Night Blindness

Nyctalopia

Occult Macular Dystrophy

OCMD	Omd
Dystrophy, Macular, Occult

Cone-Rod Dystrophy 11

CORD11

Dystrophy, Cone-Rod, Type 11

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis	X-Linked Retinoschisis
X-Linked Juvenile Retinoschisis	RS1
XLRS1	X-Linked Juvenile Retinoschisis 1
Xlrs	Retinoschisis, X-Linked
Rs	Congenital X-Linked Retinoschisis
Degenerative Retinoschisis	Juvenile Retinoschisis
Xjr	Retinoschisis Juvenile X-Linked 1
Retinoschisis, Juvenile, X-Linked	Retinoschisis, Degenerative

Leber Congenital Amaurosis 16

LCA16

Leber Congenital Amaurosis, Type 16

Nephronophthisis 4

NPHP4	Juvenile Nephronophthisis 4
Nephronophthisis 4, Juvenile	Nephronophthisis, Type 4

Vertebral Artery Insufficiency

Vertebral Artery Syndrome

Episodic Pain Syndrome, Familial, 2

FEPS2

Familial Episodic Pain Syndrome 2

Episodic Ataxia, Type 1

Episodic Ataxia Type 1	Episodic Ataxia/Myokymia Syndrome
EA1	Episodic Ataxia With Myokymia
Eam	Ataxia, Episodic, With Myokymia
Aem	Paroxysmal Ataxia With Neuromyotonia, Hereditary
Myokymia With Periodic Ataxia	Episodic Ataxia 1
Aemk	Ea-1
Paroxysmal Ataxia With Neuromyotonia	Myokymia Isolated 1
MK1	Ataxia, Episodic, Type 1
Continuous Muscle Fiber Activity, Hereditary	Isaacs Syndrome

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Blue Cone Monochromacy

Blue Cone Monochromatism	BCM
Cbbm	Color Blindness Blue Mono Cone Monochromatic Type
Cone Dystrophy 5, X-Linked	Colorblindness, Blue-Mono-Cone-Monochromatic Type
Achromatopsia Incomplete X-Linked	Incomplete Achromatopsia X-Linked
X-Chromosome-Linked Achromatopsia	X-Linked Achromatopsia Incomplete
Atypical X-Linked Achromatopsia	Color Blindness, Blue Monocone Monochromatic Type
S Cone Monochromacy	S Cone Monochromatism
X-Linked Incomplete Achromatopsia	Colorblindness Blue-Mono-Cone-Monochromatic Type
Cone Dystrophy 5	COD5
Cone Dystrophy 5 X-Linked	Monochromacy, Blue Cone
Cone Monochromatism	Achromatopsia Incomplete, X-Linked

Color Blindness

Color Vision Defect	Blindness Color
Colour Blindness	Colour Vision Deficiency
Color Vision Deficiency	Color Vision Defects
Defective Color Vision	Vision Defect, Color
Color-Vision Disease	Dyschromatopsia

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07184	KCNV2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNV2	RGD	RGD:1309271
Bos taurus	KCNV2	VGNC	VGNC:30498
Mus musculus	KCNV2	MGD	MGI:2670981
Canis familiaris	KCNV2	VGNC	VGNC:42298
Macaca mulatta	KCNV2	VGNC	VGNC:73863
Felis catus	KCNV2	VGNC	VGNC:63051

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