• Gene id: 1258

Gene Summary

• Gene Symbol: CNGB1   Gene   UCSC   Ensembl
• Aliases: CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45
• Gene name: cyclic nucleotide gated channel subunit beta 1
• Alternate names: cyclic nucleotide-gated cation channel beta-1, CNG channel beta-1, CNG-4, cyclic nucleotide gated channel beta 1, cyclic nucleotide-gated cation channel 4, cyclic nucleotide-gated cation channel gamma, cyclic nucleotide-gated cation channel modulatory subunit, g,
• Gene location: 16q21 (57971127: 57882339)     Exons: 36     NC_000016.10
• Gene summary(Entrez): In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta,
• OMIM: 609950

Protein Summary

• Protein general information: Q14028  
  • Name: Cyclic nucleotide gated cation channel beta 1 (Cyclic nucleotide gated cation channel 4) (CNG channel 4) (CNG 4) (CNG4) (Cyclic nucleotide gated cation channel gamma) (Cyclic nucleotide gated cation channel modulatory subunit) (Cyclic nucleotide gated cha
  • Length: 1251  
  • Mass: 139678
• Sequence:

  MLGWVQRVLPQPPGTPRKTKMQEEEEVEPEPEMEAEVEPEPNPEEAETESESMPPEESFKEEEVAVADPSPQETK
  EAALTSTISLRAQGAEISEMNSPSRRVLTWLMKGVEKVIPQPVHSITEDPAQILGHGSTGDTGCTDEPNEALEAQ
  DTRPGLRLLLWLEQNLERVLPQPPKSSEVWRDEPAVATGAASDPAPPGRPQEMGPKLQARETPSLPTPIPLQPKE
  EPKEAPAPEPQPGSQAQTSSLPPTRDPARLVAWVLHRLEMALPQPVLHGKIGEQEPDSPGICDVQTISILPGGQV
  EPDLVLEEVEPPWEDAHQDVSTSPQGTEVVPAYEEENKAVEKMPRELSRIEEEKEDEEEEEEEEEEEEEEEVTEV
  LLDSCVVSQVGVGQSEEDGTRPQSTSDQKLWEEVGEEAKKEAEEKAKEEAEEVAEEEAEKEPQDWAETKEEPEAE
  AEAASSGVPATKQHPEVQVEDTDADSCPLMAEENPPSTVLPPPSPAKSDTLIVPSSASGTHRKKLPSEDDEAEEL
  KALSPAESPVVAWSDPTTPKDTDGQDRAASTASTNSAIINDRLQELVKLFKERTEKVKEKLIDPDVTSDEESPKP
  SPAKKAPEPAPDTKPAEAEPVEEEHYCDMLCCKFKHRPWKKYQFPQSIDPLTNLMYVLWLFFVVMAWNWNCWLIP
  VRWAFPYQTPDNIHHWLLMDYLCDLIYFLDITVFQTRLQFVRGGDIITDKKDMRNNYLKSRRFKMDLLSLLPLDF
  LYLKVGVNPLLRLPRCLKYMAFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWASAYQGLGSTHWVY
  DGVGNSYIRCYYFAVKTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDST
  VKYMNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDML
  KRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHG
  FTNLFILDKKDLNEILVHYPESQKLLRKKARRMLRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAK
  GGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQHTHPKEAATDPPAPRTPPEPPGSPPSSP
  PPASLGRPEGEEEGPAEPEEHSVRICMSPGPEPGEQILSVKMPEEREEKAE

• Structural information:
  • Interpro: IPR032944  IPR018490  IPR018488  IPR000595  IPR014710  
  • Prosite: PS00888 PS00889 PS50042
  • CDD: cd00038
  • STRING: ENSP00000251102
• Other Databases: GeneCards:  CNGB1  Malacards:  CNGB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005222	intracellular cAMP-activated cation channel activity	IBA	molecular function
GO:0030553	cGMP binding	IBA	molecular function
GO:0005223	intracellular cGMP-activated cation channel activity	IBA	molecular function
GO:0005221	intracellular cyclic nucleotide activated cation channel activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007608	sensory perception of smell	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0017071	intracellular cyclic nucleotide activated cation channel complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005222	intracellular cAMP-activated cation channel activity	IEA	molecular function
GO:0043855	cyclic nucleotide-gated ion channel activity	IEA	molecular function
GO:0033365	protein localization to organelle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007608	sensory perception of smell	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0043195	terminal bouton	IEA	cellular component
GO:0005223	intracellular cGMP-activated cation channel activity	IEA	molecular function
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0016020	membrane	IEA	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
GO:1902495	transmembrane transporter complex	IDA	cellular component
GO:0001895	retina homeostasis	IMP	biological process
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04740	Olfactory transduction
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:11379879
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq