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

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

中文名称:钾电压门控通道调节因子亚科 V 成员 2

种属: Homo sapiens

同用名: Kv8.2; RCD3B; KV11.1

基因 ID: 169522 | 基因类型: protein coding

关于 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).

功能概要

从功能和结构的角度来看,电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码钾电压门控通道亚家族 V 的一个成员。该成员被鉴定为“沉默亚基”,它不形成同源多聚体,但与其他几个亚家族成员形成异源多聚体。通过强制异聚化,它对其他钾通道亚基发挥功能改变作用。这种蛋白质在胰腺中强烈表达,在其他几种组织中表达较弱。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_133497.4 NP_598004.1 potassium voltage-gated channel subfamily V member 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNV2 蛋白结构

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.
蛋白主名 其他名称

potassium voltage-gated channel subfamily V member 2

potassium channel, subfamily V, member 2

KCNV2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KCNV2 Q8TDN2 ANKRD28 Homo sapiens O15084 32296183
种属内
KCNV2 Q8TDN2 ANKRD28 Homo sapiens O15084 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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