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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5158
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphodiesterase 6B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PDE6B
Synonyms (NCBI Gene) Gene synonyms aliases	CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, RP40, rd1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(39)

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

Show/Hide all(243)

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

Transcription factors

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital stationary night blindness	Congenital stationary night blindness autosomal dominant 2	rs121918582	N/A
retinal dystrophy	Retinal dystrophy	rs767438881, rs772057239, rs141563823, rs1734075026, rs863223339, rs753925314, rs730880317, rs763371769, rs527236091, rs1735848896, rs1737503567, rs1577301137, rs1736334634, rs746552548, rs769671323 View all (22 more)	N/A
Retinitis Pigmentosa	Retinitis pigmentosa 40, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs1736426982, rs1360937549, rs527236089, rs373037737, rs863223339, rs730880317, rs1577288305, rs1737229618, rs1553812554, rs527236091, rs772057239, rs1577301137, rs201541131, rs750147338, rs769671323 View all (32 more)	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1734066547	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs1064797304	N/A
Progressive Cone Dystrophy	progressive cone dystrophy (without rod involvement)	rs536742386	N/A
Rod-cone dystrophy	rod-cone dystrophy	rs536742386	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Macular dystrophy	macular dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cone Rod Dystrophies	Associate	24828262, 30998820, 36376065, 7724547
Diabetic Retinopathy	Associate	37318461
Granuloma	Associate	25081983
Heart Failure	Associate	20031959
Macular Edema	Associate	33177553, 33633436, 38364953
Mood Disorders	Associate	18854872
Nerve Degeneration	Associate	7724547
Night Blindness	Associate	30998820, 33177553, 36376065
Night blindness congenital stationary	Associate	19578023, 36376065
Pseudoinflammatory fundus dystrophy Finnish type	Associate	36376065
Refsum Disease Infantile	Associate	27898983
Retinal Cone Dystrophy 1	Associate	39596324
Retinal Degeneration	Associate	1329504, 28130426, 36376065
Retinal Diseases	Associate	27898983, 31877759, 33946315
Retinal Dystrophies	Associate	24625443, 27874104, 38364953, 39596324
Retinitis Pigmentosa	Associate	1329504, 18723146, 18854872, 23049240, 23882135, 24828262, 30820151, 31960602, 32036094, 33177553, 33633436, 33673512, 33946315, 35033039, 36959549 View all (8 more)
Specific Granule Deficiency	Associate	35033039
Vision Disorders	Associate	33177553, 33673512, 36376065, 38364953
X Linked Combined Immunodeficiency Diseases	Associate	18723146

PDE6B (phosphodiesterase 6B)