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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 169522

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNV2 Protein Structure

BTB_2

BTB_2: BTB/POZ domain (99 - 193)

Ion_trans

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

  • potassium 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
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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