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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6247
Gene name Gene Name - the full gene name approved by the HGNC.	Retinoschisin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RS1
Synonyms (NCBI Gene) Gene synonyms aliases	RS, XLRS1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this ge

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894935	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs281865332	T>A,C	Not-provided, pathogenic	Missense variant, initiator codon variant
rs1555959367	A>C	Pathogenic	Splice donor variant

Show/Hide all(207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT682285	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT682284	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT682283	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT682282	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT682281	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT682280	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT682279	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT682278	hsa-miR-4311	HITS-CLIP	23706177
MIRT682277	hsa-miR-1276	HITS-CLIP	23706177
MIRT682276	hsa-miR-583	HITS-CLIP	23706177
MIRT682275	hsa-miR-4731-3p	HITS-CLIP	23706177
MIRT682274	hsa-miR-4801	HITS-CLIP	23706177
MIRT682273	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT682272	hsa-miR-646	HITS-CLIP	23706177
MIRT682271	hsa-miR-664a-3p	HITS-CLIP	23706177
MIRT682270	hsa-miR-4719	HITS-CLIP	23706177
MIRT682269	hsa-miR-4310	HITS-CLIP	23706177
MIRT682268	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT682267	hsa-miR-103b	HITS-CLIP	23706177
MIRT682266	hsa-miR-4744	HITS-CLIP	23706177
MIRT682265	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT682264	hsa-miR-107	HITS-CLIP	23706177
MIRT682263	hsa-miR-1206	HITS-CLIP	23706177
MIRT682262	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT682261	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT682260	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT682259	hsa-let-7a-3p	HITS-CLIP	23706177
MIRT682258	hsa-let-7b-3p	HITS-CLIP	23706177
MIRT682257	hsa-let-7f-1-3p	HITS-CLIP	23706177
MIRT682256	hsa-miR-98-3p	HITS-CLIP	23706177
MIRT682255	hsa-miR-4789-5p	HITS-CLIP	23706177
MIRT682254	hsa-let-7f-2-3p	HITS-CLIP	23706177
MIRT682253	hsa-miR-1185-1-3p	HITS-CLIP	23706177
MIRT682252	hsa-miR-1185-2-3p	HITS-CLIP	23706177
MIRT682251	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT682250	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682285	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT682284	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT682283	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT682282	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT682281	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT682280	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT682279	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT682278	hsa-miR-4311	HITS-CLIP	23706177
MIRT682277	hsa-miR-1276	HITS-CLIP	23706177
MIRT682276	hsa-miR-583	HITS-CLIP	23706177
MIRT682275	hsa-miR-4731-3p	HITS-CLIP	23706177
MIRT682274	hsa-miR-4801	HITS-CLIP	23706177
MIRT682273	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT682272	hsa-miR-646	HITS-CLIP	23706177
MIRT682271	hsa-miR-664a-3p	HITS-CLIP	23706177
MIRT682270	hsa-miR-4719	HITS-CLIP	23706177
MIRT682269	hsa-miR-4310	HITS-CLIP	23706177
MIRT682268	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT682267	hsa-miR-103b	HITS-CLIP	23706177
MIRT682266	hsa-miR-4744	HITS-CLIP	23706177
MIRT682265	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT682264	hsa-miR-107	HITS-CLIP	23706177
MIRT682263	hsa-miR-1206	HITS-CLIP	23706177
MIRT682262	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT682261	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT682260	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT682259	hsa-let-7a-3p	HITS-CLIP	23706177
MIRT682258	hsa-let-7b-3p	HITS-CLIP	23706177
MIRT682257	hsa-let-7f-1-3p	HITS-CLIP	23706177
MIRT682256	hsa-miR-98-3p	HITS-CLIP	23706177
MIRT682255	hsa-miR-4789-5p	HITS-CLIP	23706177
MIRT682254	hsa-let-7f-2-3p	HITS-CLIP	23706177
MIRT682253	hsa-miR-1185-1-3p	HITS-CLIP	23706177
MIRT682252	hsa-miR-1185-2-3p	HITS-CLIP	23706177
MIRT682251	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT682250	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT1320784	hsa-miR-1255a	CLIP-seq
MIRT1320785	hsa-miR-1255b	CLIP-seq
MIRT1320786	hsa-miR-1261	CLIP-seq
MIRT1320787	hsa-miR-128	CLIP-seq
MIRT1320788	hsa-miR-1286	CLIP-seq
MIRT1320789	hsa-miR-139-5p	CLIP-seq
MIRT1320790	hsa-miR-144	CLIP-seq
MIRT1320791	hsa-miR-1470	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT1320796	hsa-miR-27a	CLIP-seq
MIRT1320797	hsa-miR-27b	CLIP-seq
MIRT1320798	hsa-miR-297	CLIP-seq
MIRT1320799	hsa-miR-3130-5p	CLIP-seq
MIRT1320800	hsa-miR-3149	CLIP-seq
MIRT1320801	hsa-miR-3167	CLIP-seq
MIRT1320802	hsa-miR-3170	CLIP-seq
MIRT1320803	hsa-miR-339-5p	CLIP-seq
MIRT1320804	hsa-miR-34c-3p	CLIP-seq
MIRT1320805	hsa-miR-3591-5p	CLIP-seq
MIRT1320806	hsa-miR-3620	CLIP-seq
MIRT1320807	hsa-miR-3663-5p	CLIP-seq
MIRT1320808	hsa-miR-3667-3p	CLIP-seq
MIRT1320809	hsa-miR-3668	CLIP-seq
MIRT1320810	hsa-miR-3672	CLIP-seq
MIRT1320811	hsa-miR-3677-3p	CLIP-seq
MIRT1320812	hsa-miR-3681	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320815	hsa-miR-3924	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT1320817	hsa-miR-4260	CLIP-seq
MIRT1320818	hsa-miR-4261	CLIP-seq
MIRT1320819	hsa-miR-4281	CLIP-seq
MIRT1320820	hsa-miR-4318	CLIP-seq
MIRT1320821	hsa-miR-4329	CLIP-seq
MIRT1320822	hsa-miR-4420	CLIP-seq
MIRT1320823	hsa-miR-4460	CLIP-seq
MIRT1320824	hsa-miR-4482	CLIP-seq
MIRT1320825	hsa-miR-4501	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT1320827	hsa-miR-4667-3p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320829	hsa-miR-4693-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320831	hsa-miR-4722-5p	CLIP-seq
MIRT1320832	hsa-miR-4727-3p	CLIP-seq
MIRT1320833	hsa-miR-4729	CLIP-seq
MIRT1320834	hsa-miR-4753-3p	CLIP-seq
MIRT1320835	hsa-miR-4755-3p	CLIP-seq
MIRT1320836	hsa-miR-4768-5p	CLIP-seq
MIRT1320837	hsa-miR-4780	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT1320839	hsa-miR-4786-5p	CLIP-seq
MIRT1320840	hsa-miR-4790-3p	CLIP-seq
MIRT1320841	hsa-miR-4797-5p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320844	hsa-miR-513a-5p	CLIP-seq
MIRT1320845	hsa-miR-567	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320847	hsa-miR-579	CLIP-seq
MIRT1320848	hsa-miR-615-5p	CLIP-seq
MIRT1320849	hsa-miR-647	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT1320851	hsa-miR-769-5p	CLIP-seq
MIRT1320852	hsa-miR-876-5p	CLIP-seq
MIRT1320853	hsa-miR-892a	CLIP-seq
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT2095239	hsa-miR-1229	CLIP-seq
MIRT1320784	hsa-miR-1255a	CLIP-seq
MIRT1320785	hsa-miR-1255b	CLIP-seq
MIRT2095240	hsa-miR-1280	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT2095241	hsa-miR-3691-5p	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT2095242	hsa-miR-4320	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT2095243	hsa-miR-4643	CLIP-seq
MIRT2095244	hsa-miR-466	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT2095245	hsa-miR-4789-3p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT2319597	hsa-miR-1253	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT2319598	hsa-miR-3127-5p	CLIP-seq
MIRT2319599	hsa-miR-3148	CLIP-seq
MIRT2319600	hsa-miR-331-3p	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT2319601	hsa-miR-4270	CLIP-seq
MIRT2319602	hsa-miR-4307	CLIP-seq
MIRT2319603	hsa-miR-4441	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT2319604	hsa-miR-4639-5p	CLIP-seq
MIRT2319605	hsa-miR-4668-5p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT2393926	hsa-miR-1343	CLIP-seq
MIRT2393927	hsa-miR-3921	CLIP-seq
MIRT2393928	hsa-miR-4536	CLIP-seq
MIRT2393929	hsa-miR-4653-5p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT2393930	hsa-miR-4682	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT2458645	hsa-miR-3647-3p	CLIP-seq
MIRT2458646	hsa-miR-542-5p	CLIP-seq
MIRT2615269	hsa-miR-1281	CLIP-seq
MIRT2615270	hsa-miR-191	CLIP-seq
MIRT1320835	hsa-miR-4755-3p	CLIP-seq
MIRT2615271	hsa-miR-665	CLIP-seq
MIRT2615272	hsa-miR-873	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
CREBBP	Unknown	18927113
CRX	Activation	18927113
EP300	Unknown	18927113

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	TAS	9326935
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS	21196491
GO:0005543	Function	Phospholipid binding	IPI	21196491
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19849666
GO:0005615	Component	Extracellular space	TAS	10915776
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9326935
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	19093009
GO:0008289	Function	Lipid binding	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IGI	21196491
GO:0009986	Component	Cell surface	IEA
GO:0010842	Process	Retina layer formation	IBA
GO:0010842	Process	Retina layer formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	19849666
GO:0098984	Component	Neuron to neuron synapse	IEA
GO:0098984	Component	Neuron to neuron synapse	ISS	21196491

MIM	HGNC	e!Ensembl
300839	10457	ENSG00000102104

Protein

UniProt ID

O15537

Protein name

Retinoschisin (X-linked juvenile retinoschisis protein)

Protein function

Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two n

PDB

3JD6 , 5N6W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00754	F5_F8_type_C	80 → 216	F5/8 type C domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expre

Sequence

MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCI
PECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSS
QWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNS
DRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

Sequence length

224

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs1928222017, rs61752156, rs61752067, rs61752062, rs281865367, rs1928241490, rs281865352, rs281865368, rs61752065, rs61752158, rs104894933, rs281865354, rs281865369, rs61752071, rs61752159 View all (30 more)	N/A
Retinoschisis	retinoschisis	rs281865352, rs61752158, rs61752067, rs104894930, rs1602308821, rs281865345, rs61752075, rs281865349, rs61752156	N/A
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 2	rs281865365	N/A

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35569920
Atrophy	Associate	34822951
Autistic Disorder	Associate	18490926
Axenfeld Rieger syndrome	Associate	37069516
Cysts	Associate	18834580
Cytokine Release Syndrome	Stimulate	33601057
Glaucoma Angle Closure	Associate	31238476, 37069516
Grouped Pigmentation of the Macula	Associate	26043410
Hypertensive Retinopathy	Associate	31668851
Kidney Diseases Cystic	Associate	37069516
Kidney Failure Chronic	Associate	30419843
Leber Congenital Amaurosis	Stimulate	39189993
Neoplasms	Inhibit	35569920
Night blindness congenital stationary	Associate	30196853
Progressive hearing loss stapes fixation	Associate	33452396
Pseudoinflammatory fundus dystrophy Finnish type	Associate	25999676
Pulmonary Disease Chronic Obstructive	Associate	35281477
Refsum Disease Infantile	Associate	35456422, 39189993
Retinal Degeneration	Associate	35456422
Retinal Detachment	Associate	30196853, 33460243
Retinal Diseases	Associate	23847049, 26812435, 32423767
Retinal Dystrophies	Associate	15937075, 39189993
Retinal Perforations	Associate	33460243
Retinitis	Associate	16884758, 30196853, 31668851
Retinitis Pigmentosa	Stimulate	33452396, 39189993
Retinitis Pigmentosa	Associate	33946315
Retinoschisis	Associate	10533068, 11738458, 12782284, 12928282, 15937075, 16768192, 16884758, 17515881, 17615541, 18516436, 18541843, 18834580, 19390641, 19393523, 20061330 View all (49 more)
Retinoschisis of Fovea	Associate	17515881
Schisis association	Associate	22110067, 33124204
Tooth Loss	Associate	26812435
Vascular System Injuries	Associate	37640791
Vision Disorders	Associate	21738583, 24505212, 30630865, 32300273

RS1 (retinoschisin 1)