Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CNGB3 (cyclic nucleotide gated channel beta 3)

Identity

Alias_namesACHM3
ACHM1
RMCH
achromatopsia (rod monochromacy) 3
achromatopsia (rod monochromacy) 1
Other alias
HGNC (Hugo) CNGB3
LocusID (NCBI) 54714
Atlas_Id 40112
Location 8q21.3  [Link to chromosome band 8q21]
Location_base_pair Starts at 86573935 and ends at 86743675 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CNGB3   2153
Cards
Entrez_Gene (NCBI)CNGB3  54714  cyclic nucleotide gated channel beta 3
AliasesACHM1
GeneCards (Weizmann)CNGB3
Ensembl hg19 (Hinxton)ENSG00000170289 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170289 [Gene_View]  chr8:86573935-86743675 [Contig_View]  CNGB3 [Vega]
ICGC DataPortalENSG00000170289
TCGA cBioPortalCNGB3
AceView (NCBI)CNGB3
Genatlas (Paris)CNGB3
WikiGenes54714
SOURCE (Princeton)CNGB3
Genetics Home Reference (NIH)CNGB3
Genomic and cartography
GoldenPath hg38 (UCSC)CNGB3  -     chr8:86573935-86743675 -  8q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNGB3  -     8q21.3   [Description]    (hg19-Feb_2009)
EnsemblCNGB3 - 8q21.3 [CytoView hg19]  CNGB3 - 8q21.3 [CytoView hg38]
Mapping of homologs : NCBICNGB3 [Mapview hg19]  CNGB3 [Mapview hg38]
OMIM248200   262300   605080   
Gene and transcription
Genbank (Entrez)AF228520 AF272900 AL713036 BC150601 BX118844
RefSeq transcript (Entrez)NM_019098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNGB3
Cluster EST : UnigeneHs.154433 [ NCBI ]
CGAP (NCI)Hs.154433
Alternative Splicing GalleryENSG00000170289
Gene ExpressionCNGB3 [ NCBI-GEO ]   CNGB3 [ EBI - ARRAY_EXPRESS ]   CNGB3 [ SEEK ]   CNGB3 [ MEM ]
Gene Expression Viewer (FireBrowse)CNGB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54714
GTEX Portal (Tissue expression)CNGB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQW8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQW8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQW8
Splice isoforms : SwissVarQ9NQW8
PhosPhoSitePlusQ9NQW8
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_1 (PS00888)    CNMP_BINDING_2 (PS00889)    CNMP_BINDING_3 (PS50042)   
Domains : Interpro (EBI)CNG6    cNMP-bd-like    cNMP-bd_CS    cNMP-bd_dom    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)   
Domain families : Pfam (NCBI)pfam00027   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)CNGB3
DMDM Disease mutations54714
Blocks (Seattle)CNGB3
SuperfamilyQ9NQW8
Human Protein AtlasENSG00000170289
Peptide AtlasQ9NQW8
HPRD05468
IPIIPI00746960   IPI00409767   IPI00981617   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQW8
IntAct (EBI)Q9NQW8
FunCoupENSG00000170289
BioGRIDCNGB3
STRING (EMBL)CNGB3
ZODIACCNGB3
Ontologies - Pathways
QuickGOQ9NQW8
Ontology : AmiGOphotoreceptor outer segment  intracellular cGMP activated cation channel activity  voltage-gated potassium channel activity  integral component of plasma membrane  transport  cation transport  signal transduction  visual perception  cGMP binding  regulation of membrane potential  potassium ion transmembrane transport  transmembrane transporter complex  
Ontology : EGO-EBIphotoreceptor outer segment  intracellular cGMP activated cation channel activity  voltage-gated potassium channel activity  integral component of plasma membrane  transport  cation transport  signal transduction  visual perception  cGMP binding  regulation of membrane potential  potassium ion transmembrane transport  transmembrane transporter complex  
NDEx NetworkCNGB3
Atlas of Cancer Signalling NetworkCNGB3
Wikipedia pathwaysCNGB3
Orthology - Evolution
OrthoDB54714
GeneTree (enSembl)ENSG00000170289
Phylogenetic Trees/Animal Genes : TreeFamCNGB3
HOVERGENQ9NQW8
HOGENOMQ9NQW8
Homologs : HomoloGeneCNGB3
Homology/Alignments : Family Browser (UCSC)CNGB3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNGB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNGB3
dbVarCNGB3
ClinVarCNGB3
1000_GenomesCNGB3 
Exome Variant ServerCNGB3
ExAC (Exome Aggregation Consortium)CNGB3 (select the gene name)
Genetic variants : HAPMAP54714
Genomic Variants (DGV)CNGB3 [DGVbeta]
DECIPHERCNGB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNGB3 
Mutations
ICGC Data PortalCNGB3 
TCGA Data PortalCNGB3 
Broad Tumor PortalCNGB3
OASIS PortalCNGB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNGB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNGB3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CNGB3
DgiDB (Drug Gene Interaction Database)CNGB3
DoCM (Curated mutations)CNGB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNGB3 (select a term)
intoGenCNGB3
Cancer3DCNGB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248200    262300    605080   
Orphanet158    1842    10639   
MedgenCNGB3
Genetic Testing Registry CNGB3
NextProtQ9NQW8 [Medical]
TSGene54714
GENETestsCNGB3
Target ValidationCNGB3
Huge Navigator CNGB3 [HugePedia]
snp3D : Map Gene to Disease54714
BioCentury BCIQCNGB3
ClinGenCNGB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54714
Chemical/Pharm GKB GenePA26663
Clinical trialCNGB3
Miscellaneous
canSAR (ICR)CNGB3 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNGB3
EVEXCNGB3
GoPubMedCNGB3
iHOPCNGB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:03:00 CEST 2017

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