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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	343035
Gene name	RD3 regulator of GUCY2D
Gene symbol	RD3
Synonyms (NCBI Gene)	C1orf36LCA12
Chromosome	1
Chromosome location	1q32.3
Summary	This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splic

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146420268	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs386834260	C>A,T	Pathogenic	Splice donor variant
rs762631020	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs786205148	G>A	Pathogenic	Coding sequence variant, stop gained
rs786205149	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205150	C>A	Pathogenic	Coding sequence variant, stop gained

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT710191	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT710190	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT710189	hsa-miR-4257	HITS-CLIP	19536157
MIRT710188	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT710187	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT663151	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT663150	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT663149	hsa-miR-4779	HITS-CLIP	23824327
MIRT663148	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT663147	hsa-miR-5690	HITS-CLIP	23824327
MIRT663146	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663145	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663144	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663143	hsa-miR-564	HITS-CLIP	23824327
MIRT663142	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT663141	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT663140	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT663139	hsa-miR-4266	HITS-CLIP	23824327
MIRT663138	hsa-miR-7977	HITS-CLIP	23824327
MIRT663137	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663136	hsa-miR-665	HITS-CLIP	23824327
MIRT441890	hsa-miR-3910	PAR-CLIP	22291592
MIRT441889	hsa-miR-634	PAR-CLIP	22291592
MIRT441888	hsa-miR-451b	PAR-CLIP	22291592
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22291592
MIRT441890	hsa-miR-3910	PAR-CLIP	22100165
MIRT441889	hsa-miR-634	PAR-CLIP	22100165
MIRT441888	hsa-miR-451b	PAR-CLIP	22100165
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22100165
MIRT710191	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT710190	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT710189	hsa-miR-4257	HITS-CLIP	19536157
MIRT710188	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT710187	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT663151	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT663150	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT663149	hsa-miR-4779	HITS-CLIP	23824327
MIRT663148	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT663147	hsa-miR-5690	HITS-CLIP	23824327
MIRT663146	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663145	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663144	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663143	hsa-miR-564	HITS-CLIP	23824327
MIRT663142	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT663141	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT663140	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT663139	hsa-miR-4266	HITS-CLIP	23824327
MIRT663138	hsa-miR-7977	HITS-CLIP	23824327
MIRT663137	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663136	hsa-miR-665	HITS-CLIP	23824327
MIRT441890	hsa-miR-3910	PAR-CLIP	22291592
MIRT441889	hsa-miR-634	PAR-CLIP	22291592
MIRT441888	hsa-miR-451b	PAR-CLIP	22291592
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22291592
MIRT441890	hsa-miR-3910	PAR-CLIP	22100165
MIRT441889	hsa-miR-634	PAR-CLIP	22100165
MIRT441888	hsa-miR-451b	PAR-CLIP	22100165
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22100165
MIRT1298831	hsa-miR-1237	CLIP-seq
MIRT1298832	hsa-miR-1248	CLIP-seq
MIRT1298833	hsa-miR-1271	CLIP-seq
MIRT1298834	hsa-miR-128	CLIP-seq
MIRT1298835	hsa-miR-182	CLIP-seq
MIRT1298836	hsa-miR-1827	CLIP-seq
MIRT1298837	hsa-miR-2110	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298839	hsa-miR-298	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298841	hsa-miR-3150a-3p	CLIP-seq
MIRT1298842	hsa-miR-3175	CLIP-seq
MIRT1298843	hsa-miR-34b	CLIP-seq
MIRT1298844	hsa-miR-3606	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298846	hsa-miR-3612	CLIP-seq
MIRT1298847	hsa-miR-3614-5p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT1298854	hsa-miR-3974	CLIP-seq
MIRT1298855	hsa-miR-4260	CLIP-seq
MIRT1298856	hsa-miR-4269	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT1298858	hsa-miR-4308	CLIP-seq
MIRT1298859	hsa-miR-4461	CLIP-seq
MIRT1298860	hsa-miR-4645-5p	CLIP-seq
MIRT1298861	hsa-miR-4673	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT1298863	hsa-miR-4753-3p	CLIP-seq
MIRT1298864	hsa-miR-4755-3p	CLIP-seq
MIRT1298865	hsa-miR-490-3p	CLIP-seq
MIRT1298866	hsa-miR-539	CLIP-seq
MIRT1298867	hsa-miR-580	CLIP-seq
MIRT1298868	hsa-miR-650	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT1298870	hsa-miR-885-3p	CLIP-seq
MIRT1298871	hsa-miR-9	CLIP-seq
MIRT1298872	hsa-miR-939	CLIP-seq
MIRT1298873	hsa-miR-942	CLIP-seq
MIRT1298874	hsa-miR-96	CLIP-seq
MIRT2088904	hsa-miR-4710	CLIP-seq
MIRT2088905	hsa-miR-4792	CLIP-seq
MIRT2088906	hsa-miR-664	CLIP-seq
MIRT2088907	hsa-miR-873	CLIP-seq
MIRT2088908	hsa-miR-194	CLIP-seq
MIRT2313801	hsa-miR-1184	CLIP-seq
MIRT1298833	hsa-miR-1271	CLIP-seq
MIRT1298834	hsa-miR-128	CLIP-seq
MIRT1298835	hsa-miR-182	CLIP-seq
MIRT1298836	hsa-miR-1827	CLIP-seq
MIRT2088908	hsa-miR-194	CLIP-seq
MIRT1298837	hsa-miR-2110	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298839	hsa-miR-298	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT2313802	hsa-miR-3132	CLIP-seq
MIRT1298841	hsa-miR-3150a-3p	CLIP-seq
MIRT1298843	hsa-miR-34b	CLIP-seq
MIRT2313803	hsa-miR-3529	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298847	hsa-miR-3614-5p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT2313804	hsa-miR-379	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2313805	hsa-miR-3929	CLIP-seq
MIRT2313806	hsa-miR-4252	CLIP-seq
MIRT1298856	hsa-miR-4269	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT2313807	hsa-miR-4418	CLIP-seq
MIRT2313808	hsa-miR-4419b	CLIP-seq
MIRT2313809	hsa-miR-4450	CLIP-seq
MIRT2313810	hsa-miR-4478	CLIP-seq
MIRT2313811	hsa-miR-4537	CLIP-seq
MIRT1298860	hsa-miR-4645-5p	CLIP-seq
MIRT2313812	hsa-miR-4649-3p	CLIP-seq
MIRT1298861	hsa-miR-4673	CLIP-seq
MIRT2313813	hsa-miR-4703-3p	CLIP-seq
MIRT2088904	hsa-miR-4710	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT1298864	hsa-miR-4755-3p	CLIP-seq
MIRT2313814	hsa-miR-4760-5p	CLIP-seq
MIRT2088905	hsa-miR-4792	CLIP-seq
MIRT2313815	hsa-miR-4793-3p	CLIP-seq
MIRT2313816	hsa-miR-485-5p	CLIP-seq
MIRT2313817	hsa-miR-509-3-5p	CLIP-seq
MIRT2313818	hsa-miR-509-5p	CLIP-seq
MIRT2313819	hsa-miR-555	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT2313820	hsa-miR-661	CLIP-seq
MIRT1298870	hsa-miR-885-3p	CLIP-seq
MIRT1298874	hsa-miR-96	CLIP-seq
MIRT2458007	hsa-miR-2116	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2458008	hsa-miR-4273	CLIP-seq
MIRT2458009	hsa-miR-4533	CLIP-seq
MIRT2458010	hsa-miR-4677-5p	CLIP-seq
MIRT2458011	hsa-miR-4716-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2458012	hsa-miR-4747-5p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT2458007	hsa-miR-2116	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2458008	hsa-miR-4273	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT2458010	hsa-miR-4677-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2610378	hsa-miR-548c-3p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2610378	hsa-miR-548c-3p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	21078983, 25416956, 29515371, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	29030614
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	29030614
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0015031	Process	Protein transport	IMP	21928830
GO:0031283	Process	Negative regulation of guanylate cyclase activity	IMP	21928830, 30559291
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	29030614
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	IEA

MIM	HGNC	e!Ensembl
180040	19689	ENSG00000198570

Q7Z3Z2

Protein name

Protein RD3 (Retinal degeneration protein 3)

Protein function

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulate

PDB

6DRF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14473	RD3	5 → 133	RD3 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina (PubMed:12914764). Widely expressed (at protein level) (PubMed:29030614). In the retina the strongest immunoreactivity is detected in the inner half of the cytoplasmic portion of the photoreceptor layer, where rods

Sequence

MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDY
SWLASTPRSTYDLSPIERLQLEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRS
VLQEVLERMKQEEEAHKLTRQWSLRPRGSLATFKTRARISPFASDIRTISEDVERDTPPP
LRSWSMPEFRAPKAD

Sequence length

195

Interactions

View interactions

250

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Pathogenic	rs786205148	RCV001814086
Leber congenital amaurosis	Pathogenic	rs762631020	RCV005417984
Leber congenital amaurosis 12	Pathogenic; Likely pathogenic	rs386834260, rs761112550, rs762631020, rs786205148, rs786205149, rs786205150, rs2464555363, rs1410405989	RCV001886727 RCV001958711 RCV000170305 RCV000170306 RCV000170307 RCV000170308 RCV002825181 RCV003026681 RCV000014001
RD3-related disorder	Pathogenic	rs786205148	RCV003895172
Retinal dystrophy	Pathogenic	rs786205148	RCV004815266

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial pancreatic carcinoma	Benign	rs1947058	RCV005891621
Nonpapillary renal cell carcinoma	Benign	rs1947058	RCV005891619
Ovarian cancer	Benign	rs1947058	RCV005891620

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cone Rod Dystrophies	Associate	22531706
Leber Congenital Amaurosis	Associate	18936139, 22531706, 23308101, 24516651
Leber Congenital Amaurosis 12	Associate	38479331, 40188639
Neoplasms	Associate	29030614
Nephrosis Lipoid	Associate	22531706
Nerve Degeneration	Associate	23308101
Retinal Dystrophies	Associate	22531706
Retinal Dystrophy Early Onset Severe	Associate	22531706
Retinitis Pigmentosa	Associate	24516651

RD3 (RD3 regulator of GUCY2D)