Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5158
Gene name	Phosphodiesterase 6B
Gene symbol	PDE6B
Synonyms (NCBI Gene)	CSNB3CSNBAD2GMP-PDEbetaPDEBRP40rd1
Chromosome	4
Chromosome location	4p16.3
Summary	Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral memb

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SNP ID	Visualize variation	Clinical significance	Consequence
rs62295357	T>C	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant
rs121918580	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121918581	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918583	T>A,C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs141563823	G>A	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs201541131	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs370758397	G>C,T	Pathogenic	Splice donor variant
rs398123298	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs527236088	T>A	Pathogenic	Coding sequence variant, missense variant
rs527236089	G>C	Pathogenic	Splice donor variant
rs527236091	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs536742386	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs555600300	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs559964930	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs727504075	G>A,T	Pathogenic	Splice donor variant
rs730880317	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs750147338	->C	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs753925314	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs758052437	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs759382635	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs760766981	T>C	Uncertain-significance, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs763371769	A>G	Likely-pathogenic	Splice acceptor variant
rs769671323	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs772057239	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs776050413	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs781003757	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, initiator codon variant, missense variant
rs869312177	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA>TCTGGG	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs876657718	C>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs970990957	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1212998897	A>G,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant
rs1360937549	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553801591	->ACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553812554	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1560134806	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATC>TCTGGGTA	Pathogenic	Coding sequence variant, frameshift variant
rs1577288305	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577296602	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1577301137	C>G	Pathogenic	Intron variant
rs1577301589	T>G	Pathogenic	Splice donor variant
rs1577311264	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant

243

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miRTarBase ID	miRNA	Experiments	Reference
MIRT719723	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT719722	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT719721	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT719720	hsa-miR-544b	HITS-CLIP	19536157
MIRT719719	hsa-miR-4649-3p	HITS-CLIP	19536157
MIRT719718	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT719717	hsa-miR-3197	HITS-CLIP	19536157
MIRT719716	hsa-miR-6087	HITS-CLIP	19536157
MIRT719715	hsa-miR-3656	HITS-CLIP	19536157
MIRT719714	hsa-miR-7160-5p	HITS-CLIP	19536157
MIRT719713	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT719723	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT719722	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT719721	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT719720	hsa-miR-544b	HITS-CLIP	19536157
MIRT719719	hsa-miR-4649-3p	HITS-CLIP	19536157
MIRT719718	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT719717	hsa-miR-3197	HITS-CLIP	19536157
MIRT719716	hsa-miR-6087	HITS-CLIP	19536157
MIRT719715	hsa-miR-3656	HITS-CLIP	19536157
MIRT719714	hsa-miR-7160-5p	HITS-CLIP	19536157
MIRT719713	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT630011	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT630010	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT630009	hsa-miR-4486	HITS-CLIP	23824327
MIRT630008	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630007	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630006	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630005	hsa-miR-4284	HITS-CLIP	23824327
MIRT630004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630003	hsa-miR-4505	HITS-CLIP	23824327
MIRT630002	hsa-miR-5787	HITS-CLIP	23824327
MIRT630001	hsa-miR-585-3p	HITS-CLIP	23824327
MIRT630000	hsa-miR-1268a	HITS-CLIP	23824327
MIRT629999	hsa-miR-1268b	HITS-CLIP	23824327
MIRT629998	hsa-miR-7977	HITS-CLIP	23824327
MIRT629997	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT629996	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT719723	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT719722	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT719721	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT719720	hsa-miR-544b	HITS-CLIP	19536157
MIRT719719	hsa-miR-4649-3p	HITS-CLIP	19536157
MIRT719718	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT719717	hsa-miR-3197	HITS-CLIP	19536157
MIRT719716	hsa-miR-6087	HITS-CLIP	19536157
MIRT719715	hsa-miR-3656	HITS-CLIP	19536157
MIRT719714	hsa-miR-7160-5p	HITS-CLIP	19536157
MIRT719713	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT719723	hsa-miR-3622a-3p	HITS-CLIP	19536157
MIRT719722	hsa-miR-3622b-3p	HITS-CLIP	19536157
MIRT719721	hsa-miR-6765-3p	HITS-CLIP	19536157
MIRT719720	hsa-miR-544b	HITS-CLIP	19536157
MIRT719719	hsa-miR-4649-3p	HITS-CLIP	19536157
MIRT719718	hsa-miR-7162-3p	HITS-CLIP	19536157
MIRT719717	hsa-miR-3197	HITS-CLIP	19536157
MIRT719716	hsa-miR-6087	HITS-CLIP	19536157
MIRT719715	hsa-miR-3656	HITS-CLIP	19536157
MIRT719714	hsa-miR-7160-5p	HITS-CLIP	19536157
MIRT719713	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT630011	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT630010	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT630009	hsa-miR-4486	HITS-CLIP	23824327
MIRT630008	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630007	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630006	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630005	hsa-miR-4284	HITS-CLIP	23824327
MIRT630004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630003	hsa-miR-4505	HITS-CLIP	23824327
MIRT630002	hsa-miR-5787	HITS-CLIP	23824327
MIRT630001	hsa-miR-585-3p	HITS-CLIP	23824327
MIRT630000	hsa-miR-1268a	HITS-CLIP	23824327
MIRT629999	hsa-miR-1268b	HITS-CLIP	23824327
MIRT629998	hsa-miR-7977	HITS-CLIP	23824327
MIRT629997	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT629996	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT1220822	hsa-miR-1206	CLIP-seq
MIRT1220823	hsa-miR-1587	CLIP-seq
MIRT1220824	hsa-miR-1827	CLIP-seq
MIRT1220825	hsa-miR-2117	CLIP-seq
MIRT1220826	hsa-miR-3160-3p	CLIP-seq
MIRT1220827	hsa-miR-3192	CLIP-seq
MIRT1220828	hsa-miR-3622a-5p	CLIP-seq
MIRT1220829	hsa-miR-3689a-3p	CLIP-seq
MIRT1220830	hsa-miR-3689c	CLIP-seq
MIRT1220831	hsa-miR-3689d	CLIP-seq
MIRT1220832	hsa-miR-3942-3p	CLIP-seq
MIRT1220833	hsa-miR-4264	CLIP-seq
MIRT1220834	hsa-miR-4273	CLIP-seq
MIRT1220835	hsa-miR-4276	CLIP-seq
MIRT1220836	hsa-miR-4433	CLIP-seq
MIRT1220837	hsa-miR-4459	CLIP-seq
MIRT1220838	hsa-miR-4487	CLIP-seq
MIRT1220839	hsa-miR-4674	CLIP-seq
MIRT1220840	hsa-miR-4704-3p	CLIP-seq
MIRT1220841	hsa-miR-4728-5p	CLIP-seq
MIRT1220842	hsa-miR-4768-3p	CLIP-seq
MIRT1220843	hsa-miR-4797-3p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT1220845	hsa-miR-490-5p	CLIP-seq
MIRT1220846	hsa-miR-558	CLIP-seq
MIRT1220847	hsa-miR-578	CLIP-seq
MIRT1220848	hsa-miR-635	CLIP-seq
MIRT1220849	hsa-miR-759	CLIP-seq
MIRT1220850	hsa-miR-873	CLIP-seq
MIRT1220851	hsa-miR-1268	CLIP-seq
MIRT1220852	hsa-miR-128	CLIP-seq
MIRT1220853	hsa-miR-139-5p	CLIP-seq
MIRT1220854	hsa-miR-24	CLIP-seq
MIRT1220855	hsa-miR-27a	CLIP-seq
MIRT1220856	hsa-miR-27b	CLIP-seq
MIRT1220857	hsa-miR-3163	CLIP-seq
MIRT1220858	hsa-miR-340	CLIP-seq
MIRT1220859	hsa-miR-4328	CLIP-seq
MIRT1220860	hsa-miR-4438	CLIP-seq
MIRT1220861	hsa-miR-4715-5p	CLIP-seq
MIRT1220862	hsa-miR-513a-5p	CLIP-seq
MIRT1220863	hsa-miR-548ac	CLIP-seq
MIRT1220864	hsa-miR-548ae	CLIP-seq
MIRT1220865	hsa-miR-548aj	CLIP-seq
MIRT1220866	hsa-miR-548am	CLIP-seq
MIRT1220867	hsa-miR-548d-3p	CLIP-seq
MIRT1220868	hsa-miR-548v	CLIP-seq
MIRT1220869	hsa-miR-548x	CLIP-seq
MIRT1220870	hsa-miR-548z	CLIP-seq
MIRT1220871	hsa-miR-582-5p	CLIP-seq
MIRT1220872	hsa-miR-585	CLIP-seq
MIRT1220826	hsa-miR-3160-3p	CLIP-seq
MIRT1220827	hsa-miR-3192	CLIP-seq
MIRT1220829	hsa-miR-3689a-3p	CLIP-seq
MIRT1220830	hsa-miR-3689c	CLIP-seq
MIRT1220831	hsa-miR-3689d	CLIP-seq
MIRT1220838	hsa-miR-4487	CLIP-seq
MIRT1220841	hsa-miR-4728-5p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT1220846	hsa-miR-558	CLIP-seq
MIRT2292161	hsa-miR-1227	CLIP-seq
MIRT2292162	hsa-miR-1262	CLIP-seq
MIRT2292163	hsa-miR-2114	CLIP-seq
MIRT1220826	hsa-miR-3160-3p	CLIP-seq
MIRT1220827	hsa-miR-3192	CLIP-seq
MIRT1220829	hsa-miR-3689a-3p	CLIP-seq
MIRT1220830	hsa-miR-3689c	CLIP-seq
MIRT1220831	hsa-miR-3689d	CLIP-seq
MIRT1220836	hsa-miR-4433	CLIP-seq
MIRT1220860	hsa-miR-4438	CLIP-seq
MIRT1220837	hsa-miR-4459	CLIP-seq
MIRT1220838	hsa-miR-4487	CLIP-seq
MIRT2292164	hsa-miR-4701-3p	CLIP-seq
MIRT1220841	hsa-miR-4728-5p	CLIP-seq
MIRT1220842	hsa-miR-4768-3p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT2292165	hsa-miR-508-5p	CLIP-seq
MIRT2292166	hsa-miR-542-3p	CLIP-seq
MIRT1220863	hsa-miR-548ac	CLIP-seq
MIRT1220864	hsa-miR-548ae	CLIP-seq
MIRT1220865	hsa-miR-548aj	CLIP-seq
MIRT1220866	hsa-miR-548am	CLIP-seq
MIRT1220867	hsa-miR-548d-3p	CLIP-seq
MIRT1220869	hsa-miR-548x	CLIP-seq
MIRT1220870	hsa-miR-548z	CLIP-seq
MIRT1220846	hsa-miR-558	CLIP-seq
MIRT2292167	hsa-miR-661	CLIP-seq
MIRT2292168	hsa-miR-766	CLIP-seq
MIRT1220851	hsa-miR-1268	CLIP-seq
MIRT1220824	hsa-miR-1827	CLIP-seq
MIRT2292163	hsa-miR-2114	CLIP-seq
MIRT1220854	hsa-miR-24	CLIP-seq
MIRT1220827	hsa-miR-3192	CLIP-seq
MIRT1220828	hsa-miR-3622a-5p	CLIP-seq
MIRT2392285	hsa-miR-3664-3p	CLIP-seq
MIRT1220829	hsa-miR-3689a-3p	CLIP-seq
MIRT1220830	hsa-miR-3689c	CLIP-seq
MIRT1220831	hsa-miR-3689d	CLIP-seq
MIRT2392286	hsa-miR-3929	CLIP-seq
MIRT2392287	hsa-miR-4419b	CLIP-seq
MIRT1220836	hsa-miR-4433	CLIP-seq
MIRT1220860	hsa-miR-4438	CLIP-seq
MIRT1220837	hsa-miR-4459	CLIP-seq
MIRT2392288	hsa-miR-4478	CLIP-seq
MIRT2392289	hsa-miR-4695-5p	CLIP-seq
MIRT1220841	hsa-miR-4728-5p	CLIP-seq
MIRT1220842	hsa-miR-4768-3p	CLIP-seq
MIRT2392290	hsa-miR-485-5p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT2392291	hsa-miR-510	CLIP-seq
MIRT2392292	hsa-miR-512-5p	CLIP-seq
MIRT1220863	hsa-miR-548ac	CLIP-seq
MIRT1220864	hsa-miR-548ae	CLIP-seq
MIRT1220865	hsa-miR-548aj	CLIP-seq
MIRT1220866	hsa-miR-548am	CLIP-seq
MIRT1220867	hsa-miR-548d-3p	CLIP-seq
MIRT1220869	hsa-miR-548x	CLIP-seq
MIRT1220870	hsa-miR-548z	CLIP-seq
MIRT1220872	hsa-miR-585	CLIP-seq
MIRT2589923	hsa-miR-147	CLIP-seq
MIRT1220824	hsa-miR-1827	CLIP-seq
MIRT2292163	hsa-miR-2114	CLIP-seq
MIRT2589924	hsa-miR-3178	CLIP-seq
MIRT1220827	hsa-miR-3192	CLIP-seq
MIRT2589925	hsa-miR-323-5p	CLIP-seq
MIRT1220828	hsa-miR-3622a-5p	CLIP-seq
MIRT2589926	hsa-miR-3647-3p	CLIP-seq
MIRT2392285	hsa-miR-3664-3p	CLIP-seq
MIRT1220829	hsa-miR-3689a-3p	CLIP-seq
MIRT1220830	hsa-miR-3689c	CLIP-seq
MIRT1220831	hsa-miR-3689d	CLIP-seq
MIRT2589927	hsa-miR-3911	CLIP-seq
MIRT2392286	hsa-miR-3929	CLIP-seq
MIRT2392287	hsa-miR-4419b	CLIP-seq
MIRT1220836	hsa-miR-4433	CLIP-seq
MIRT1220837	hsa-miR-4459	CLIP-seq
MIRT2392288	hsa-miR-4478	CLIP-seq
MIRT2589928	hsa-miR-4662a-5p	CLIP-seq
MIRT2392289	hsa-miR-4695-5p	CLIP-seq
MIRT1220841	hsa-miR-4728-5p	CLIP-seq
MIRT1220842	hsa-miR-4768-3p	CLIP-seq
MIRT2392290	hsa-miR-485-5p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT2392291	hsa-miR-510	CLIP-seq
MIRT2392292	hsa-miR-512-5p	CLIP-seq
MIRT2589929	hsa-miR-541	CLIP-seq
MIRT2589930	hsa-miR-566	CLIP-seq
MIRT2589931	hsa-miR-644	CLIP-seq
MIRT2589932	hsa-miR-654-5p	CLIP-seq
MIRT2589933	hsa-miR-876-3p	CLIP-seq
MIRT2589923	hsa-miR-147	CLIP-seq
MIRT1220824	hsa-miR-1827	CLIP-seq
MIRT2292163	hsa-miR-2114	CLIP-seq
MIRT2589924	hsa-miR-3178	CLIP-seq
MIRT2589925	hsa-miR-323-5p	CLIP-seq
MIRT1220828	hsa-miR-3622a-5p	CLIP-seq
MIRT2589926	hsa-miR-3647-3p	CLIP-seq
MIRT2589927	hsa-miR-3911	CLIP-seq
MIRT2589928	hsa-miR-4662a-5p	CLIP-seq
MIRT1220844	hsa-miR-490-3p	CLIP-seq
MIRT2392291	hsa-miR-510	CLIP-seq
MIRT2392292	hsa-miR-512-5p	CLIP-seq
MIRT2589929	hsa-miR-541	CLIP-seq
MIRT2589930	hsa-miR-566	CLIP-seq
MIRT2589931	hsa-miR-644	CLIP-seq
MIRT2589932	hsa-miR-654-5p	CLIP-seq
MIRT2589933	hsa-miR-876-3p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
NRL	Unknown	12566383
SP1	Unknown	11438531
SP4	Unknown	11438531

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	8394174
GO:0007603	Process	Phototransduction, visible light	TAS	8394174
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0009583	Process	Detection of light stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IEA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA
GO:1990009	Process	Retinal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
180072	8786	ENSG00000133256

P35913

Protein name

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (GMP-PDE beta) (EC 3.1.4.35)

Protein function

Rod-specific cGMP phosphodiesterase that catalyzes the hydrolysis of 3',5'-cyclic GMP (PubMed:20940301). Necessary for the formation of a functional phosphodiesterase holoenzyme (By similarity). Involved in retinal circadian rhythm photoentrainm

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01590	GAF	71 → 217	GAF domain	Domain
PF01590	GAF	252 → 429	GAF domain	Domain
PF00233	PDEase_I	556 → 801		Domain

Sequence

MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALL
ELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLE
DCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPI
MNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPY
SGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNA
SADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMES
LTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC
DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVL
VRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDID
HRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLM
DIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS
AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCT
FVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEIC
NGGPAPKSSTCCIL

Sequence length

854

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Phototransduction		Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade Ca2+ pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs121918583, rs145605739, rs898144119, rs1734056711, rs1736178477, rs398123298	RCV001257886 RCV001257887 RCV001257811 RCV001257810 RCV001257885 RCV003483468 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy	Pathogenic	rs1734066547	RCV001199506	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness autosomal dominant 2	Likely pathogenic; Pathogenic	rs764605140, rs970768801, rs727504075, rs121918582, rs2474073903, rs373037737, rs1325957874	RCV001702590 RCV002503398 RCV002498731 RCV000013986 RCV003992024 RCV002497489 RCV002246264 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Stationary Night Blindness, Dominant	Likely pathogenic; Pathogenic	rs398123298	RCV003483468	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs1064797304	RCV001199718	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PDE6B-related disorder	Pathogenic; Likely pathogenic	rs727504075, rs869312177, rs753925314, rs370898371, rs772057239, rs751859807, rs398123298	RCV003387510 RCV004739604 RCV004740254 RCV004740287 RCV004527806 RCV004740625 RCV004537307 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic	rs536742386	RCV000787860	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs121918583, rs1296042817, rs1201231261, rs527236091, rs527236088, rs527236090, rs747684283, rs727504075, rs863223339, rs201541131, rs876657718, rs121918579, rs730880317, rs121918581, rs141563823 View all (31 more)	RCV004815509 RCV004815563 RCV004816851 RCV003888537 RCV003888538 View all (41 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1470086286, rs1316718953, rs527236089, rs527236091, rs527236088, rs527236090, rs727504075, rs863223339, rs201541131, rs869312177, rs876657718, rs121918579, rs121918581, rs781003757, rs370898371 View all (17 more)	RCV001724803 RCV001724804 RCV000132573 RCV000132574 RCV000132575 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 40	Likely pathogenic; Pathogenic	rs2109284029, rs764605140, rs1392709495, rs1296042817, rs2109133174, rs367879245, rs970768801, rs527236088, rs747684283, rs727504075, rs201541131, rs758052437, rs869312177, rs776050413, rs121918579 View all (32 more)	RCV001376399 RCV002272466 RCV001542534 RCV001542535 RCV001591818 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-cone dystrophy	Likely pathogenic	rs536742386	RCV000850087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs727504075	RCV005888435	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital stationary night blindness	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCUTANEOUS ALBINISM TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (63)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	1338765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	31639430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37318461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11124530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20031959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	1338765		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31548259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	18854872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	19578023, 36376065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	17044014, 17584859		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CTD_human_DG	8075643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	8075643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	Night blindness	UNIPROT_DG	8075643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	Night blindness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	Night blindness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	Night blindness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary, type 1	Night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	Night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	30998820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	1329504, 28130426, 36376065	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	27898983, 31877759, 33946315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28488341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10409424, 10782214, 1329504, 17044014, 23882135, 24828262, 26283863, 28103888, 28927431, 29661219, 30153077, 9501213, 9543643		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	1329504, 18723146, 18854872, 23049240, 23882135, 24828262, 30820151, 31960602, 32036094, 33177553, 33633436, 33673512, 33946315, 35033039, 36959549 View all (8 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	20591486, 22334370, 25097241, 25823529, 26497376, 26667666, 30718709, 7724547, 8394174		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	8394174		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 40 (disorder)	Retinitis Pigmentosa	UNIPROT_DG	22334370, 8394174, 8557257, 8595886, 8698075, 8956055, 9543643		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 40 (disorder)	Retinitis Pigmentosa	CLINVAR_DG	26872967		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 40 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 40 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	30998820		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific Granule Deficiency	Specific granule deficiency	Pubtator	35033039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33177553, 33673512, 36376065, 38364953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG	8075643		★★★★★ ★☆☆☆☆ Found in Text Mining only

PDE6B (phosphodiesterase 6B)