CNGB1 - cyclic nucleotide gated channel subunit beta 1 Gene

Homo sapiens

Also known as CNG4; GAR1; GARP; RP45; CNCG2; CNCG4; GARP2; RCNC2; RCNCb; CNCG3L; CNGB1B; RCNCbeta

Gene ID: 1258 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cAMP binding	IDA IDA: Inferred from direct assay	34699778	GOA
enables cGMP binding	IDA IDA: Inferred from direct assay	24164424	GOA
enables intracellularly cAMP-activated cation channel activity	IDA IDA: Inferred from direct assay	34699778	GOA
enables intracellularly cGMP-activated cation channel activity	IDA IDA: Inferred from direct assay	24164424	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20890309	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	15557452	GOA
involved in monoatomic cation transport	IDA IDA: Inferred from direct assay	24164424	GOA
involved in retina homeostasis	IMP IMP: Inferred from mutant phenotype	15557452	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of transmembrane transporter complex	IDA IDA: Inferred from direct assay	24164424	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

CNGB1 Protein Structure

cNMP_binding

0
200
400
600
800
1000
1251 a.a.

Protein Preferred Names

Protein Names

cyclic nucleotide-gated cation channel beta-1

CNG channel beta-1

CNGB1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	CNGB1	Q14028	GRB14	Bos taurus	Q5ICW4	Y2H	20890309
Cross	CNGB1	Q14028	GRB14	Bos taurus	Q5ICW4	Anti Tag CoIP	20890309

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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-RS02883	CNGB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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