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Aliases & Descriptions for CNGB3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ACHM1 2, 5 | | ACHM3 2, 5 | | RMCH 2 | | RMCH1 2 |
| | | Descriptions |
|---|
| CNG channel beta-3 3 | | Cone photoreceptor cGMP-gated channel subunit beta 3 | | Cyclic nucleotide-gated cation channel modulatory subunit 2, 3 | | Cyclic nucleotide-gated channel beta-3 3 | | achromatopsia (rod monochromacy) 3 1 | | cone photoreceptor cGMP-gated cation channel beta-subunit 2 | | cyclic nucleotide gated channel beta 3 2 |
|
| | Search outside databases for aliases for CNGB3 genePrevious GC identifers: GC08M086090 GC08M087318 GC08M087542 GC08M087541 |
Summaries for CNGB3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8Function: 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 conesGene Wiki entry for CNGB3 (Cyclic_nucleotide_gated_channel_beta_3) |
Genomic Location for CNGB3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the CNGB3 gene 
Entrez Gene cytogenetic band: 8q21-q22 Ensembl cytogenetic band: 8q21.3 HGNC cytogenetic band: 8q21.3CNGB3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M087655:
(about GC identifiers)
Start:
|
87,655,277 bp from pter |
End:
|
87,825,017 bp from pter |
Size:
|
169,741 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000008.9 NT_008046.15
| Proteins for CNGB3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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; 92250 Da
Subunit: Heterooligomeric complex with CNGA3
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q9NRE9Alternative splicing: 2 isoforms: Q9NQW8-1 Q9NQW8-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_061971.3
ENSEMBL proteins: ENSP00000316605
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for CNGB3: Assays for CNGB3: | Protein
Domains/ Families for CNGB3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9NQW8Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) familySimilarity: Contains 1 cyclic nucleotide-binding domain | Gene Function for CNGB3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019098
Applied Biosystems Silencer® siRNAs for CNGB3
Sigma-Aldrich siRNA and siRNA Panels for CNGB3  Sigma-Aldrich shRNA Panels and shRNA for CNGB3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_019098                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_019098                                  untagged cDNA clone in CMV expression vector: NM_019098 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_019098
UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8Function: 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 cones5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for CNGB3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for CNGB3 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for CNGB3 
--4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for CNGB3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for CNGB3 |
Browse Tocris compounds for CNGB3
|
Transcripts for CNGB3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019098
Sigma-Aldrich siRNA and siRNA Panels for CNGB3  Sigma-Aldrich shRNA Panels and shRNA for CNGB3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_019098 REFSEQ mRNAs for CNGB3 gene: NM_019098.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_019098               OriGene GFP tagged cDNA clone in CMV expression vector: NM_019098                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_019098                                  untagged cDNA clone in CMV expression vector: NM_019098  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
):AA064798 AF228520 BF725469 CA397799 AA702094 BF725470 AA069559 AA718978 AV726367 AA723276 NM_019098 H53424 AL713036 BI827605 BX104558 AA707769 BX118844 AA317961 AF272900 AA064967 AA069498 AA701157 AA704625 AA708280
highest scoring ESTs for CNGB3:AA064756 AF272900 AL713036 AA012972 AA064759 AA064798 AA064814 AA064967 AA065114 AA069498 Unigene Cluster for CNGB3: Cyclic nucleotide gated channel beta 3 Hs.154433 [show with all ESTs]Unigene Representative Sequence: AF272900
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000320005
|
Expression for CNGB3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| CNGB3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for CNGB3
1 / 2 / 3 6 probe-sets matching CNGB3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.154433 UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8Tissue specificity: Expressed specifically in the retina |
Orthologs for CNGB3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CNGB3 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for CNGB3
ENSEMBL Gene Tree for CNGB3 | Paralogs for CNGB3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for CNGB3 gene
- CNGB12
|
SNPs/Variants for CNGB3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for CNGB3 (up to first 250kb)
|
Disorders & Mutations for CNGB3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 605080 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 myopia1 Novoseek disease relationship for CNGB3 gene
About this table
GeneTests: CNGB3 Achromatopsia Human Gene Mutation Database: CNGB3 Genetic Association Database: CNGB3 Human Genome Epidemiology Navigator: CNGB3 (1 document)
|
Medical News for CNGB3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for CNGB3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/31 PubMed articles for CNGB3 gene (see all 31
):- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (PubMed id 15657609)1, 3, 4, 6 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, 4 Kohl S....Wissinger B. (2000)
- Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)2, 3, 4 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, 3, 4 Nishiguchi K.M....Dryja T.P. (2005)
- Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)1, 3, 4 Johnson S....Hunt D.M. (2004)
- International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)2, 3 Hofmann F....Kaupp U.B. (2005)
- CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. (PubMed id 17652762)1, 3 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, 3 Peng C....Varnum M.D. (2003)
- Clinical and genetic features of Hungarian achromatopsia patients. (PubMed id 16319819)1, 3 Varsanyi B....Farkas A. (2005)
- Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. (PubMed id 17265047)1, 3 Wiszniewski W....Lupski J.R. (2007)
|
Search for CNGB3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CNGB3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing CNGB3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CNGB3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for CNGB3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for CNGB3:

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