CNGB1 - cyclic nucleotide gated channel subunit beta 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1258

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	CNGB1	NCBI