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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CNGB3 Gene

protein-coding GIFtS: 56
GCID: GC08M087566

cyclic nucleotide gated channel beta 3

(Previous names: achromatopsia (rod monochromacy) 3, achromatopsia (rod...)
(Previous symbols: ACHM3, ACHM1, RMCH)

Explore 16 diseases affiliated with
CNGB3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cyclic Nucleotide Gated Channel Beta 3¹ ²		Achromatopsia (Rod Monochromacy) 1¹
ACHM1¹ ² ⁵		Achromatopsia (Rod Monochromacy) 3¹
Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit² ³		Cone Photoreceptor CGMP-Gated Cation Channel Beta-Subunit²
CNG Channel Beta-3² ³		Cyclic Nucleotide-Gated Cation Channel Beta-3²
ACHM3¹ ⁵		Cone Photoreceptor CGMP-Gated Channel Subunit Beta³
RMCH¹		Cyclic Nucleotide-Gated Channel Beta-3³

External Ids:	HGNC: 2153¹	Entrez Gene: 54714²	Ensembl: ENSG00000170289⁷	OMIM: 605080⁵	UniProtKB: Q9NQW8³

Export aliases for CNGB3 gene to outside databases

Previous GC identifers: GC08M086090 GC08M087318 GC08M087542 GC08M087541 GC08M087655 GC08M082795

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CNGB3:

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a

role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory

transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and

juvenile macular degeneration, also known as Stargardt Disease. (provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8

Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This

protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization

of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of

extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when

coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-,

green- and blue sensitive cones

Gene Wiki entry for CNGB3 (Cyclic nucleotide gated channel beta 3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CNGB3 gene promoter:
USF1 GATA-3 Brachyury GATA-1 GATA-2 HNF-1A MEF-2A HNF-1 USF-1 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CNGB3 promoter sequence

Search SABiosciences Chromatin IP Primers for CNGB3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNGB3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.3 Ensembl cytogenetic band: 8q21.3 HGNC cytogenetic band: 8q21.3

CNGB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNGB3 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M087566: view genomic region (about GC identifiers)

Start:	87,566,205 bp from pter	End:	87,755,903 bp from pter
Size:	189,699 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8 (See protein sequence)

Recommended Name: Cyclic nucleotide-gated cation channel beta-3

Size: 809 amino acids; 92167 Da

Subunit: Heterooligomeric complex with CNGA3

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=AAF80179.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: C9JA51 Q9NRE9

Alternative splicing: 2 isoforms: Q9NQW8-1 Q9NQW8-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNGB3: NX_Q9NQW8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NQW8

CNGB3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_061971.3

ENSEMBL proteins:

ENSP00000428329 ENSP00000316605

Human Recombinant Protein Products for CNGB3:

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	Browse Proteins at Uscn

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IEA	--
GO:0016021	integral to membrane	IEA	--

CNGB3 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CNGB3 for domains About GeneDecksing

5 InterPro domains/families:

IPR018488 cNMP-bd_CS

IPR018490 cNMP-bd-like

IPR005821 Ion_trans_dom

IPR000595 cNMP-bd_dom

IPR014710 RmlC-like_jellyroll

Graphical View of Domain Structure for InterPro Entry Q9NQW8

ProtoNet protein and cluster: Q9NQW8

1 Blocks protein family: IPB000595 Cyclic nucleotide-binding domain

UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8

Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily

Similarity: Contains 1 cyclic nucleotide-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CNGB3_HUMAN, Q9NQW8

Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This

protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization

of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of

extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when

coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-,

green- and blue sensitive cones

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005223	intracellular cGMP activated cation channel activity	IEA	--
GO:0005515	protein binding	--	--
GO:0030553	cGMP binding	IEA	--

CNGB3 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cngb3):

cellular

nervous system

vision/eye

CNGB3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cngb3^tm1Dgen for CNGB3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CNGB3

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNGB3
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate CNGB3 (see all 36):
		hsa-miR-549 hsa-miR-361-5p hsa-miR-3938 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-890 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: CNGB3 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

Sweet Taste Signaling

Cellular Effects of Sildenafil

0.46

Sperm Motility

0.36

Potassium transporters: inward current

Potassium transporters: inward current

1.00

Visual Cycle in Retinal Rods

Visual Cycle in Retinal Rods

1.00

CREB Pathway

Intracellular Calcium Signaling

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CNGB3

Potassium transporters- inward current

5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CNGB3 (see all 9)

	Cellular Effects of Sildenafil
	Cholera Infection
	PKA Signaling
	eNOS Signaling
	cAMP Pathway

1 BioSystems Pathway for CNGB3

Visual signal transduction- Cones

CNGB3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CNGB3

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for CNGB3 (ENSP00000316605⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CNGA3	ENSP00000272602⁴	STRING: ENSP00000272602
GNAT2	ENSP00000251337⁴	STRING: ENSP00000251337
PDE6C	ENSP00000360502⁴	STRING: ENSP00000360502

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	NAS	10888875
GO:0007165	signal transduction	NAS	10888875
GO:0007601	visual perception	IEA	--

CNGB3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CNGB3

3 HMDB Compounds for CNGB3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
Cyclic GMP	3',5'-cyclic GMP (see all 13)	7665-99-8	--

Search CenterWatch for drugs/clinical trials and news about CNGB3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CNGB3 gene:

NM_019098.4

Unigene Cluster for CNGB3:

Cyclic nucleotide gated channel beta 3

Hs.154433 [show with all ESTs]

Unigene Representative Sequence: AF272900

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000517327 ENST00000320005(uc010maj.3 uc003ydx.3) ENST00000519777

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNGB3
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate CNGB3 (see all 36):
		hsa-miR-549 hsa-miR-361-5p hsa-miR-3938 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-890 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: CNGB3 3' UTR sequence

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Additional cDNA sequence:

AF228520.1 AF272900.1 BC150601.1 DQ426865.1

2 DOTS entries:

DT.40263981 DT.426629

24/35 AceView cDNA sequences (see all 35):

AF228520 AA064798 BF725469 BF725470 CA397799 AA702094 AV726367 AA064967

AA069559 AA707769 AA317961 AA723276 BX104558 BX118844 H53424 AA718978

BI827605 NM_019098 AA069498 AF272900 AL713036 AI150392 AA064756 AA708280

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CNGB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CNGB3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature M Cone Cells

Selective marker (cell-identifying gene)

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature M-S Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature S Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature L Cone Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CNGB3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNGB3

SOURCE GeneReport for Unigene cluster: Hs.154433

UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8

Tissue specificity: Expressed specifically in the retina

SABiosciences Expression via Pathway-Focused PCR Array including CNGB3:

Hypertension in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CNGB3 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CNGB3¹	cyclic nucleotide gated channel beta 3	69.74(n) 67.69(a)		428367 XM_425928.3 XP_425928.3
lizard (Anolis carolinensis)	Reptilia	CNGB3⁶	--	61(a)	1 ↔ 1	4(22722671-22755492)
zebrafish (Danio rerio)	Actinopterygii	LOC562466¹	cyclic nucleotide-gated cation channel beta-3-like	58.81(n) 55.42(a)		562466 XM_685845.3 XP_690937.3
fruit fly (Drosophila melanogaster)	Insecta	CG17922^{1 , 3}	intracellular cyclic nucleotide activated cation more³ CG17922¹	40(a)³ 44.77(n)¹ 36.89(a)¹		57F9³ 37479¹ NM_137763.3¹ NP_611607.2¹
worm (Caenorhabditis elegans)	Secernentea	tax-2¹	Protein TAX-2	48.18(n) 37.36(a)		172723 NM_060026.5 NP_492427.3

ENSEMBL Gene Tree for CNGB3 (if available)
TreeFam Gene Tree for CNGB3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CNGB3 gene

KCNH6² KCNH3² KCNH5² HCN3² HCN4² HCN2² KCNH4² CNGA2²

CNGA1² HCN1² KCNH7² KCNH2² CNGB1² CNGA4² CNGA3² KCNH1²

KCNH8²

5 SIMAP similar genes for CNGB3 using alignment to 4 protein entries: CNGB3_HUMAN (see all proteins):

CNGB1 CNGA3 CNGA2 CNGA1 CNGA4

CNGB3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35365413^1,2	C,F	pathogenic	82850662(+)	`GGAGTA/CATTGT`	2	D Y	mis¹		4		NA	4632
rs35807406^1,2	C,F	untested	82965024(+)	`CTTCAT/CTCCGA`	2	/N /S	mis¹		6		NA EU	6074
rs199880215^1,2	C	--	82795645(+)	`ATGGGA/GTTGAA`	1	--	ut3¹		0	--	--	--	--
rs1059338^1,2	H	--	82795883(-)	`ATATGC/TTTTCC`	1	--	ut3¹ trp³		7		MN NS EA NA	608
rs17683284^1,2	C,F,H	--	82796148(+)	`TGACTC/TTATCA`	1	--	ut3¹		18		NA NS EA	2054
rs78927155^1,2		--	82796268(+)	`GTTACA/GGTGAC`	1	--	ut3¹		0	--	--	--	--
rs77776334^1,2		--	82796327(+)	`TACACT/GAATGG`	1	--	ut3¹		1		WA	118
rs16915859^1,2	C,F,H	--	82796671(+)	`CCTGTA/GTCCTC`	1	--	ut3¹ ese³		13		NA NS EA WA	1352
rs73269601^1,2	C	--	82796714(+)	`TAGATT/CGGTGT`	1	--	ut3¹		2		WA	120
rs116835980^1,2	C,F	--	82796828(+)	`TCTGCC/TGACCA`	1	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for CNGB3 (87566205 - 87755903 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for CNGB3
4 CNVs: 10261 65189 65187 5257
Human Gene Mutation Database (HGMD): CNGB3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CNGB3 for disorders           About GeneDecksing

OMIM gene information: 605080
OMIM disorders: 262300  248200
UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8

Defects in CNGB3 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is one of the most

frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset,

rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like

material. STGD1 inheritance is autosomal recessive

Defects in CNGB3 are the cause of achromatopsia type 3 (ACHM3) [MIM:262300]; also known as Pingelapese

blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of

the consistent concurrence of severe myopia

16 diseases for CNGB3: About MalaCards

achromatopsia achromatopsia 3 macular degeneration stargardt disease

cone dystrophy blue cone monochromacy color blindness congenital nystagmus

macular dystrophy nystagmus myopia blindness

retinal disease retinitis hypertension neuronitis

4 diseases from the University of Copenhagen DISEASES database for CNGB3:

Achromatopsia Color blindness Congenital nystagmus Blue cone monochromacy

1 Novoseek disease relationship for CNGB3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
achromatopsia	98.3	28	15657609 (3), 20079539 (2), 16319819 (2), 17652762 (2) (see all 17)

GeneTests: CNGB3

Achromatopsia

Genetic Association Database (GAD): CNGB3
Human Genome Epidemiology (HuGE) Navigator: CNGB3 (4 documents)

Export disorders for CNGB3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CNGB3 gene, integrated from 9 sources (see all 45):
(articles sorted by number of sources associating them with CNGB3)

Utopia: connect your pdf to the dynamic
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (PubMed id 15657609)^{1, 2, 4, 9} Kohl S....Wissinger B. (2005)
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21. (PubMed id 10958649)^{1, 2, 3, 9} Kohl S.... Wissinger B. (2000)
Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)^{1, 2, 3} Sundin O.H.... Maumenee I.H. (2000)
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PubMed id 15712225)^{1, 2, 9} Nishiguchi K.M....Dryja T.P. (2005)
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)^{1, 2, 9} Johnson S....Hunt D.M. (2004)
International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)^{1, 3} Hofmann F....Kaupp U.B. (2005)
Impaired cone function and cone degeneration resultin g from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential m echanism. (PubMed id 19767295)^{1, 9} Ding X.Q....Barlow R.B. (2009)
Comprehensive analysis of the achromatopsia genes CNG A3 and CNGB3 in progressive cone dystrophy. (PubMed id 20079539)^{1, 9} Thiadens A.A....Klaver C.C. (2010)
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. (PubMed id 17652762)^{1, 9} Khan N.W....Sieving P.A. (2007)
Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. (PubMed id 12730238)^{1, 9} Peng C....Varnum M.D. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 54714	HGNC: 2153	AceView: CNGB3	Ensembl:ENSG00000170289	euGenes: HUgn54714
ECgene: CNGB3	H-InvDB: CNGB3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CNGB3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CNGB3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB3

Intellectual Property for CNGB3 gene
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Patent Information for CNGB3 gene:
Search GeneIP for patents involving CNGB3

GeneCards and IP:
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cyclic nucleotide gated channel beta 3

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cyclic nucleotide gated channel beta 3

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