CNGB1 - cyclic nucleotide gated channel subunit beta 1 Gene

中文名称：环核苷酸门控通道亚基β1

种属: Homo sapiens

同用名: CNG4; GAR1; GARP; RP45; CNCG2; CNCG4; GARP2; RCNC2; RCNCb; CNCG3L; CNGB1B; RCNCbeta

基因 ID: 1258 | 基因类型: protein coding

关于 CNGB1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,882,340-57,971,128 (from NCBI)

This gene has 9 transcripts (splice variants), 182 orthologues, 17 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

在人类中，杆状光感受器 cGMP 门控阳离子通道有助于调节离子流入杆状光感受器外段，以响应光诱导的细胞内 cGMP 水平的改变。该通道由两个亚基 alpha 和 beta 组成，该基因编码的蛋白质代表 beta 亚基。该基因的缺陷是导致 45 型视网膜色素变性的原因。已发现该基因的三种编码不同亚型的转录物变体。[RefSeq 提供，2013 年 10 月]

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

CNGB1 基因产物(3)

mRNA	Protein	Name
NM_001135639.2	NP_001129111.1	cyclic nucleotide-gated cation channel beta-1 isoform b
NM_001286130.2	NP_001273059.1	cyclic nucleotide-gated cation channel beta-1 isoform c
NM_001297.5	NP_001288.3	cyclic nucleotide-gated cation channel beta-1 isoform a

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cAMP binding	IDA IDA: 通过直接分析推断	34699778	GOA
enables cGMP binding	IDA IDA: 通过直接分析推断	24164424	GOA
enables intracellularly cAMP-activated cation channel activity	IDA IDA: 通过直接分析推断	34699778	GOA
enables intracellularly cGMP-activated cation channel activity	IDA IDA: 通过直接分析推断	24164424	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20890309	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in detection of light stimulus involved in visual perception	IMP IMP: 通过突变表型推断	15557452	GOA
involved in monoatomic cation transport	IDA IDA: 通过直接分析推断	24164424	GOA
involved in retina homeostasis	IMP IMP: 通过突变表型推断	15557452	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of transmembrane transporter complex	IDA IDA: 通过直接分析推断	24164424	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

CNGB1 蛋白结构

cNMP_binding

0
200
400
600
800
1000
1251 a.a.

蛋白主名

其他名称

cyclic nucleotide-gated cation channel beta-1

CNG channel beta-1

CNGB1 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
种属间	CNGB1	Q14028	GRB14	Bos taurus	Q5ICW4	Y2H	20890309
种属间	CNGB1	Q14028	GRB14	Bos taurus	Q5ICW4	Anti Tag CoIP	20890309

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

Retinitis Pigmentosa 45

RP45	Retinitis Pigmentosa, Type 45

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Achromatopsia

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

Macular Dystrophy, Patterned, 1

Patterned Macular Dystrophy 1	MDPT1
Patterned Dystrophy Of Retinal Pigment Epithelium	Macular Dystrophy, Butterfly-Shaped Pigmentary
Butterfly Dystrophy Of Retinal Pigment Epithelium	Butterfly-Shaped Pigmentary Maculary Dystrophy 1
Dystrophy, Macular, Patterned, Type 1

Achromatopsia 2

ACHM2	Rod Monochromatism 2
Rod Monochromacy 2	Rmch2
Colorblindness, Total	Complete Achromatopsia
Total Colorblindness	Achromatopsia-2
Achromatopsia, Type 2	Color Blindness
Achromatopsia

Charcot-Marie-Tooth Disease Type 5

Hereditary Motor And Sensory Neuropathy With Pyramidal Features

Retinitis Pigmentosa 37

RP37	Retinitis Pigmentosa-37
Retinitis Pigmentosa, Type 37

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

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Retinal Degeneration

Degeneration Of Retina

Bestrophinopathy, Autosomal Recessive

Bestrophinopathy	Autosomal Recessive Bestrophinopathy
ARB	Bestrophinopathies
Retinopathy, Burgess-Black Type	Retinopathy Burgess-Black Type

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Achromatopsia 3

ACHM3	Pingelapese Blindness
Total Colorblindness With Myopia	Achromatopsia With Myopia
Achm1	Rmch1
Rod Monochromacy 1	Rod Monochromatism 1
Achm1, Formerly	Rod Monochromatism 1, Formerly
Rod Monochromacy 1, Formerly	Rmch1, Formerly
Achromatopsia-3	Achromatopsia, Type 3

Congenital Stationary Night Blindness

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

Eye Degenerative Disease

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

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

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02883	CNGB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CNGB1	VGNC	VGNC:27501
Mus musculus	CNGB1	MGD	MGI:2664102
Rattus norvegicus	CNGB1	RGD	RGD:621809
Macaca mulatta	CNGB1	VGNC	VGNC:71275
Canis familiaris	CNGB1	VGNC	VGNC:52122

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CNGB1 - cyclic nucleotide gated channel subunit beta 1 Gene

关于 CNGB1

功能概要

CNGB1 基因产物(3)

CNGB1 蛋白结构

CNGB1 蛋白互作信息

关联疾病

直系同源

热门区域

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CNGB1 - cyclic nucleotide gated channel subunit beta 1 Gene

关于 CNGB1

功能概要

CNGB1 基因产物(3)

CNGB1 蛋白结构

CNGB1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z