Details for: CNGB3

Gene ID: 54714

Symbol: CNGB3

Ensembl ID: ENSG00000170289

Description: cyclic nucleotide gated channel subunit beta 3

Associated with

Other Information

Genular Protein ID: 3495902645

Symbol: CNGB3_HUMAN

Name: Cyclic nucleotide-gated cation channel beta-3

UniProtKB Accession Codes:

Q9NQW8 C9JA51 Q9NRE9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EMDB 9 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 9 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10958649

Title: 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

DOI: 10.1093/hmg/9.14.2107

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 10888875

Title: Genetic basis of total colourblindness among the Pingelapese islanders.

PubMed ID: 10888875

DOI: 10.1038/77162

PubMed ID: 21878911

Title: Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels.

PubMed ID: 21878911

DOI: 10.1038/ncomms1466

PubMed ID: 12357335

Title: A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

PubMed ID: 12357335

DOI: 10.1038/sj.ejhg.5200856

PubMed ID: 14757870

Title: Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PubMed ID: 14757870

DOI: 10.1136/jmg.2003.011437

PubMed ID: 15657609

Title: CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

PubMed ID: 15657609

DOI: 10.1038/sj.ejhg.5201269

PubMed ID: 15712225

Title: Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PubMed ID: 15712225

DOI: 10.1002/humu.20142

Sequence Information:

  • Length: 809
  • Mass: 92167
  • Checksum: D16EE71A6149BDB5
  • Sequence:
    • MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE KSLKTKSTPV 
TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE QKEMDPGKEG PNSPQNKPPA 
APVINEYADA QLHNLVKRMR QRTALYKKKL VEGDLSSPEA SPQTAKPTAV PPVKESDDKP 
TEHYYRLLWF KVKKMPLTEY LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL 
VFPYQTADNI HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF 
QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI YRVIRTTGYL 
LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW AVRTLITIGG LPEPQTLFEI 
VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA NQNYFRACMD DTIAYMNNYS IPKLVQKRVR 
TWYEYTWDSQ RMLDESDLLK TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL 
KSVLYLPGDF VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG 
GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA KTAEATPPRK 
DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA QKKENSEGGE EEGKENEDKQ 
KENEDKQKEN EDKGKENEDK DKGREPEEKP LDRPECTASP IAVEEEPHSV RRTVLPRGTS 
RQSLIISMAP SAEGGEEVLT IEVKEKAKQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.