Gene Gene information from NCBI Gene database.
Entrez ID 6247
Gene name Retinoschisin 1
Gene symbol RS1
Synonyms (NCBI Gene)
RSXLRS1
Chromosome X
Chromosome location Xp22.13
Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
CREBBP Unknown 18927113
CRX Activation 18927113
EP300 Unknown 18927113
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300839 10457 ENSG00000102104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
248
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 2 Pathogenic rs281865365 RCV004767069
Juvenile retinoschisis Likely pathogenic; Pathogenic rs200866925, rs281865342, rs62645889, rs281865344, rs62645895, rs104894928, rs61752062, rs281865346, rs61752075, rs61752145, rs281865335, rs61752153, rs61752158, rs61752159, rs281865336
View all (60 more)
RCV001353045
RCV000010572
RCV005862505
RCV001199775
RCV001352955
RCV002477251
RCV005411323
RCV005411324
RCV005862506
RCV005411326
RCV005411327
RCV005867892
RCV005411329
RCV003467004
RCV000411096
RCV006250164
RCV006276068
RCV000411037
RCV005862507
RCV001353044
RCV000169568
RCV002272064
RCV001353041
RCV005632237
RCV001753489
RCV004566982
RCV005411332
RCV005632238
RCV005862508
RCV005411333
RCV005411334
RCV005411335
RCV006250165
RCV005411733
RCV001733782
RCV005862524
RCV005412318
RCV005607073
RCV003324575
RCV005042693
RCV002251086
RCV002251152
RCV002251250
RCV002251291
RCV002267648
RCV005862527
RCV002283670
RCV002283803
RCV002283837
RCV002307066
RCV002471435
RCV005045203
RCV005862543
RCV006262596
RCV000010564
RCV000010565
RCV000010567
RCV000010568
RCV000010569
RCV000010571
RCV000010573
RCV000010574
RCV005411395
RCV005415342
RCV003412577
RCV003466267
RCV006276100
RCV000411199
RCV000984306
RCV005411421
RCV005411470
RCV005411494
RCV001199774
RCV000058876
RCV001526768
RCV005042179
RCV001199773
RCV005411659
RCV001727839
RCV001198999
RCV001283764
Macular schisis Pathogenic rs199469696 RCV000058876
Nonpapillary renal cell carcinoma Likely pathogenic rs281865345 RCV005926807
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs6633108 RCV005918384
Clear cell carcinoma of kidney Likely benign rs200866925 RCV005912974
Gastric cancer Benign rs6633108 RCV005918382
Malignant tumor of esophagus Benign rs6633108 RCV005918380
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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