CNGB1 Gene

HGNC Family	Ion channels
Name	cyclic nucleotide gated channel beta 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The rod cyclic nucleotide‐gated (CNG) channel is a heterotetramer whose proper assembly, trafficking, and function depend critically on its β‐subunit encoded by CNGB1. Studies in mice in which CNGB1 has been deleted show that loss of this subunit causes severe deficiencies in channel targeting and assembly—only trace amounts of the principal CNGA1 subunit reach the rod outer segment—and this is accompanied by a dramatic loss of rod light responses and progressive retinal degeneration resembling retinitis pigmentosa (1,2,3). In addition, CNGB1 is essential for maintaining the structural integrity of the rod outer segment, contributing not only to normal disk morphogenesis but also to the proper localization of select phototransduction proteins; its absence disrupts these processes and leads to photoreceptor cell death (3). Human studies further underscore the importance of CNGB1 in retinal health, as mutations in CNGB1 account for a significant fraction of autosomal recessive retinitis pigmentosa, with patients exhibiting early loss of rod function and secondary degeneration of cones (4). Finally, modifier studies in animal models indicate that the pathological consequences of CNGB1 loss involve dysregulated Ca²⁺ entry into rods, and that manipulating related ion channels can modify the rate of photoreceptor degeneration (5). Overall, these findings collectively demonstrate that CNGB1 is a crucial determinant of native CNG channel assembly and localization in rod photoreceptors with direct implications for light sensitivity and cell survival."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sabine Hüttl, Stylianos Michalakis, Mathias Seeliger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.3764-04.2005"}], "href": "https://doi.org/10.1523/JNEUROSCI.3764-04.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15634774"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15634774"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "François Paquet-Durand, Susanne Beck, Stylianos Michalakis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddq539"}], "href": "https://doi.org/10.1093/hmg/ddq539"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21149284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21149284"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Youwen Zhang, Laurie L Molday, Robert S Molday, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.042531"}], "href": "https://doi.org/10.1242/jcs.042531"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19339551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19339551"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI95161"}], "href": "https://doi.org/10.1172/JCI95161"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29202463"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29202463"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Christian Schön, Sabrina Asteriti, Susanne Koch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv639"}], "href": "https://doi.org/10.1093/hmg/ddv639"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26740549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26740549"}]}]}]}
Synonyms	CNCG3L, GARP2, CNCG2, GAR1, CNGB1B, RP45, RCNC2, GARP, RCNCB, RCNCBETA, CNG4, CNCG4
Proteins	CNGB1_HUMAN
NCBI Gene ID	1258
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CNGB1 has 3,901 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 116 datasets.

Click the + buttons to view associations for CNGB1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CNGB1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by CNGB1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CNGB1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CNGB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CNGB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CNGB1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CNGB1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CNGB1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CNGB1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CNGB1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CNGB1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CNGB1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CNGB1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CNGB1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CNGB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CNGB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CNGB1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CNGB1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CNGB1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CNGB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CNGB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CNGB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CNGB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CNGB1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with CNGB1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CNGB1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CNGB1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CNGB1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CNGB1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CNGB1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CNGB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CNGB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CNGB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CNGB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CNGB1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CNGB1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CNGB1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CNGB1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CNGB1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CNGB1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of CNGB1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.