Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1261
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclic nucleotide gated channel subunit alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNGA3
Synonyms (NCBI Gene) Gene synonyms aliases
ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACHM2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs62156348 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs104893612 C>T Pathogenic Coding sequence variant, missense variant
rs104893613 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104893614 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104893615 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT561054 hsa-miR-3185 PAR-CLIP 20371350
MIRT561053 hsa-miR-1252-5p PAR-CLIP 20371350
MIRT561052 hsa-miR-3611 PAR-CLIP 20371350
MIRT561054 hsa-miR-3185 PAR-CLIP 20371350
MIRT561053 hsa-miR-1252-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005222 Function Intracellular cAMP-activated cation channel activity IBA 21873635
GO:0005223 Function Intracellular cGMP-activated cation channel activity IBA 21873635
GO:0005223 Function Intracellular cGMP-activated cation channel activity IMP 24164424
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600053 2150 ENSG00000144191
Protein
UniProt ID Q16281
Protein name Cyclic nucleotide-gated channel alpha-3 (CNG channel alpha-3) (CNG-3) (CNG3) (Cone photoreceptor cGMP-gated channel subunit alpha-3)
Protein function Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the chan
PDB 3SWY , 7RHS , 8ETP , 8EU3 , 8EUC , 8EV8 , 8EV9 , 8EVA , 8EVB , 8EVC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 168 411 Ion transport protein Family
PF00027 cNMP_binding 500 591 Cyclic nucleotide-binding domain Domain
PF16526 CLZ 598 668 C-terminal leucine zipper domain of cyclic nucleotide-gated channels Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Prominently expressed in retina.
Sequence
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADS
GQGSFTGQGIARLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQAN
VGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDAIVVDPSSNLYYRWLTAIALPVF
YNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLW
QHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNM
FRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWST
LTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRA
EFQAKIDSI
KQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKV
RIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVV
LSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTEY
PEAKKALEE
KGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQ
RLSQLESQ
VKGGGDKPLADGEVPGDATKTEDKQQ
Sequence length 694
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  cAMP signaling pathway
Olfactory transduction
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Achromatopsia Achromatopsia, Achromatopsia 2 rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935
View all (196 more)
14757870, 24903488, 26992781, 11536077, 17693388, 18445228, 15712225, 25943428, 23972307, 16961972, 30418171, 20079539, 28341476, 21778272, 25616768
View all (10 more)
Cone dystrophy Cone Dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709
View all (28 more)
18521937
Cone monochromatism Cone monochromatism rs104894912, rs121434621, rs104894914
Cone-rod dystrophy Cone-Rod Dystrophy 2, Cone rod dystrophy, Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
25052312
Unknown
Disease term Disease name Evidence References Source
Macular degeneration Macular degeneration ClinVar
Cone Dystrophy cone-rod dystrophy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 28350845
Aphasia Conduction Associate 35704304
Atrophy Associate 35456423
Carcinogenesis Associate 28350845
Color Vision Defects Associate 12205108, 14715947, 18636117, 20454696, 22901948, 24504161, 24676353, 25052312, 25277229, 26493561, 29618791, 31237654, 32352493, 32832242, 32913385
View all (14 more)
Cone Dystrophy Associate 12205108, 25052312, 35456423
Cone Rod Dystrophies Associate 25052312
Dyskinesias Associate 32352493
Glioblastoma Associate 37100462
Hypertensive Retinopathy Associate 35233102