Gene table of CNGA1 : cyclic nucleotide gated channel alpha 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CNGA1	OMIM link	Number of associated genes	genes
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM, HUMSAVAR	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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Annotation of the gene CNGA1

Associated genes in ENSEMBL

ENSG00000198515

Associated proteins - SwissProt Accession ID

P29973

Associated PDB IDs

Cytogenetic Band

4p12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
cGMP-PKG signaling pathway	hsa04022	5.32
Phototransduction	hsa04744	7.91
cAMP signaling pathway	hsa04024	5.05

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
The phototransduction cascade	R-HSA-2514856	8.03
Activation of the phototransduction cascade	R-HSA-2485179	9.52
Visual phototransduction	R-HSA-2187338	6.44
Signal Transduction	R-HSA-162582	1.78
Inactivation, recovery and regulation of the phototransduction cascade	R-HSA-2514859	8.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
cyclic nucleotide-gated ion channel activity	GO:0043855	7.34
intracellular cyclic nucleotide activated cation channel activity	GO:0005221	7.34
intracellular cGMP activated cation channel activity	GO:0005223	7.79
intracellular cAMP activated cation channel activity	GO:0005222	7.54
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
substrate-specific channel activity	GO:0022838	3.67
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
voltage-gated channel activity	GO:0022832	4.49
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
guanyl ribonucleotide binding	GO:0032561	3.73
voltage-gated cation channel activity	GO:0022843	4.83
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
cGMP binding	GO:0030553	6.97
cation transmembrane transporter activity	GO:0008324	3.32
transmembrane transporter activity	GO:0022857	2.82
voltage-gated potassium channel activity	GO:0005249	5.24
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
intracellular ligand-gated ion channel activity	GO:0005217	6.41
small molecule binding	GO:0036094	1.89
transmembrane receptor activity	GO:0099600	2.53
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
cyclic nucleotide binding	GO:0030551	6.13
substrate-specific transporter activity	GO:0022892	2.72
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
guanyl nucleotide binding	GO:0019001	3.73
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18