• Gene id: 54714

Gene Summary

• Gene Symbol: CNGB3   Gene   UCSC   Ensembl
• Aliases: ACHM1
• Gene name: cyclic nucleotide gated channel subunit beta 3
• Alternate names: cyclic nucleotide-gated cation channel beta-3, CNG channel beta-3, cone photoreceptor cGMP-gated cation channel beta-subunit, cyclic nucleotide gated channel beta 3, cyclic nucleotide-gated cation channel modulatory subunit,
• Gene location: 8q21.3 (86743674: 86573607)     Exons: 19     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 605080

Protein Summary

• Protein general information: Q9NQW8  
  • Name: Cyclic nucleotide gated cation channel beta 3 (Cone photoreceptor cGMP gated channel subunit beta) (Cyclic nucleotide gated cation channel modulatory subunit) (Cyclic nucleotide gated channel beta 3) (CNG channel beta 3)
  • Length: 809  
  • Mass: 92167
  • Tissue specificity: Expressed specifically in the retina. {ECO
• Sequence:

  MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSK
  KNSSGDLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKL
  VEGDLSSPEASPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLYLLWLLLV
  TLAYNWNCCFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKF
  QLDVASIIPFDICYLFFGFNPMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWAS
  NYEGIGTTRWVYDGEGNEYLRCYYWAVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATA
  NQNYFRACMDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLF
  KGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKEMYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGG
  GNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKL
  FKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDKDKGREPEEKP
  LDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLTIEVKEKAKQ

• Structural information:
  • Interpro: IPR032943  IPR018490  IPR018488  IPR000595  IPR014710  
  • Prosite: PS00888 PS00889 PS50042
  • CDD: cd00038
  • STRING: ENSP00000316605
• Other Databases: GeneCards:  CNGB3  Malacards:  CNGB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005223	intracellular cGMP-activated cation channel activity	IBA	molecular function
GO:0030553	cGMP binding	IBA	molecular function
GO:0005222	intracellular cAMP-activated cation channel activity	IBA	molecular function
GO:0005223	intracellular cGMP-activated cation channel activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005222	intracellular cAMP-activated cation channel activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030553	cGMP binding	IEA	molecular function
GO:0007165	signal transduction	NAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005223	intracellular cGMP-activated cation channel activity	IEA	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1902495	transmembrane transporter complex	IDA	cellular component
GO:0006812	cation transport	IDA	biological process
GO:0005223	intracellular cGMP-activated cation channel activity	IDA	molecular function
GO:0030553	cGMP binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway

Diseases

Associated diseases	References
Stargardt disease	KEGG:H00819
Achromatopsia	KEGG:H00971
Stargardt disease	KEGG:H00819
Achromatopsia	KEGG:H00971
color blindness	PMID:10958649
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq