Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1258
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclic nucleotide gated channel subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNGB1
Synonyms (NCBI Gene) Gene synonyms aliases
CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q21
Summary Summary of gene provided in NCBI Entrez Gene.
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,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs7190978 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant
rs121918532 C>A,T Uncertain-significance, pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs137853902 C>T Likely-pathogenic, uncertain-significance Coding sequence variant, genic downstream transcript variant, missense variant
rs189234741 C>G,T Likely-pathogenic, pathogenic Genic upstream transcript variant, splice acceptor variant
rs200963831 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017103 hsa-miR-335-5p Microarray 18185580
MIRT045902 hsa-miR-125b-5p CLASH 23622248
MIRT525339 hsa-miR-371b-5p PAR-CLIP 22012620
MIRT525338 hsa-miR-373-5p PAR-CLIP 22012620
MIRT525337 hsa-miR-616-5p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001750 Component Photoreceptor outer segment IBA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001895 Process Retina homeostasis IBA
GO:0001895 Process Retina homeostasis IMP 15557452
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600724 2151 ENSG00000070729
Protein
UniProt ID Q14028
Protein name Cyclic nucleotide-gated channel beta-1 (CNG 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) (Glutamic acid
Protein function Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel o
PDB 7RH9 , 7RHG , 7RHH , 7RHI , 7RHJ , 7RHK , 7RHL , 8DGH , 8DGK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00027 cNMP_binding 980 1069 Cyclic nucleotide-binding domain Domain
Sequence
MLGWVQRVLPQPPGTPRKTKMQEEEEVEPEPEMEAEVEPEPNPEEAETESESMPPEESFK
EEEVAVADPSPQETKEAALTSTISLRAQGAEISEMNSPSRRVLTWLMKGVEKVIPQPVHS
ITEDPAQILGHGSTGDTGCTDEPNEALEAQDTRPGLRLLLWLEQNLERVLPQPPKSSEVW
RDEPAVATGAASDPAPPGRPQEMGPKLQARETPSLPTPIPLQPKEEPKEAPAPEPQPGSQ
AQTSSLPPTRDPARLVAWVLHRLEMALPQPVLHGKIGEQEPDSPGICDVQTISILPGGQV
EPDLVLEEVEPPWEDAHQDVSTSPQGTEVVPAYEEENKAVEKMPRELSRIEEEKEDEEEE
EEEEEEEEEEEVTEVLLDSCVVSQVGVGQSEEDGTRPQSTSDQKLWEEVGEEAKKEAEEK
AKEEAEEVAEEEAEKEPQDWAETKEEPEAEAEAASSGVPATKQHPEVQVEDTDADSCPLM
AEENPPSTVLPPPSPAKSDTLIVPSSASGTHRKKLPSEDDEAEELKALSPAESPVVAWSD
PTTPKDTDGQDRAASTASTNSAIINDRLQELVKLFKERTEKVKEKLIDPDVTSDEESPKP
SPAKKAPEPAPDTKPAEAEPVEEEHYCDMLCCKFKHRPWKKYQFPQSIDPLTNLMYVLWL
FFVVMAWNWNCWLIPVRWAFPYQTPDNIHHWLLMDYLCDLIYFLDITVFQTRLQFVRGGD
IITDKKDMRNNYLKSRRFKMDLLSLLPLDFLYLKVGVNPLLRLPRCLKYMAFFEFNSRLE
SILSKAYVYRVIRTTAYLLYSLHLNSCLYYWASAYQGLGSTHWVYDGVGNSYIRCYYFAV
KTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDST
VKYMNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKV
ALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGPDGKSVLV
TLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHY
PESQKLLRKKA
RRMLRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELA
ALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQHTHPKEAATDPPAPRTPPEPPGSPPSSP
PPASLGRPEGEEEGPAEPEEHSVRICMSPGPEPGEQILSVKMPEEREEKAE
Sequence length 1251
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
Olfactory transduction
Phototransduction
  Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
VxPx cargo-targeting to cilium
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
retinal dystrophy Retinal dystrophy rs756806434, rs1365926616, rs189234741, rs749199721, rs760430056, rs1451575280, rs888090139, rs756885471, rs1210263161, rs878853394, rs1352458826, rs1960899756, rs770011113, rs1468272829, rs372504780
View all (2 more)
N/A
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 45 rs774264204, rs1961362638, rs189234741, rs527236060, rs749199721, rs1596974169, rs373232101, rs756806434, rs1596996962, rs1555488069, rs527236061, rs1596976316, rs1365926616, rs1555488573, rs1231250334
View all (21 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Optic Atrophy optic atrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35668376
Anosmia Associate 29800053
Breast Neoplasms Associate 35668376
Carcinoma Hepatocellular Associate 23423978
Congenital Abnormalities Associate 30624672
Coronary Artery Disease Associate 35151267
Developmental Disabilities Associate 30624672
Edema Associate 30624672
Epilepsy Associate 30624672
Failure to Thrive Associate 30624672