NYX (nyctalopin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60506
Gene name Gene Name - the full gene name approved by the HGNC.
Nyctalopin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NYX
Synonyms (NCBI Gene) Gene synonyms aliases
CLRP, CSNB1, CSNB1A, CSNB4, NBM1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.4
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCS
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
SNP ID Visualize variation Clinical significance Consequence
rs62637021 C>A Not-provided, pathogenic Coding sequence variant, stop gained
rs62637027 GC>AA Not-provided, pathogenic Coding sequence variant, missense variant
rs62637035 A>G Likely-pathogenic Coding sequence variant, missense variant
rs62637037 G>A Not-provided, pathogenic Coding sequence variant, stop gained
rs104894910 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT028759 hsa-miR-26b-5p Microarray 19088304
MIRT488876 hsa-miR-500a-5p PAR-CLIP 20371350
MIRT488875 hsa-miR-3917 PAR-CLIP 20371350
MIRT488874 hsa-miR-520d-5p PAR-CLIP 20371350
MIRT488873 hsa-miR-524-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005576 Component Extracellular region IEA
GO:0007601 Process Visual perception IEA
GO:0007601 Process Visual perception IEA
GO:0007601 Process Visual perception IMP 11062471
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300278 8082 ENSG00000188937
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9GZU5
Protein name Nyctalopin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 30 → 61 Leucine rich repeat N-terminal domain Family
PF00560 LRR_1 87 → 109 Leucine Rich Repeat Repeat
PF13855 LRR_8 231 → 290 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer. {ECO:0000269|PubMed:110624
Sequence 
MKGRGMLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAEL
PCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHN
GDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRG
LANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDN
LLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQN
LSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDV
PCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKL
LAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQM
D
Sequence length 481
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital stationary night blindness Congenital stationary night blindness 1A, congenital stationary night blindness rs1555967031, rs1602180478, rs1602180791, rs62637021, rs1602181006, rs62637027, rs1602181043, rs104894910, rs104894911, rs1602181253, rs281865194, rs1555967281 N/A
retinal dystrophy Retinal dystrophy rs62637025, rs2064376489, rs2064378728, rs281865194 N/A
Show/Hide Unknown Diseases (1)
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.
Disease merge term Disease name Evidence References Source
Congenital stationary night blindness, X-Linked X-linked congenital stationary night blindness N/A N/A ClinVar
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Squamous Cell Carcinoma Associate 26330293
Myopia Associate 17392683, 25802485, 37191617
Night Blindness Associate 17392683
Night blindness congenital stationary Associate 14609846, 15761389, 17392683, 18617546, 19896113, 23289809, 24715752, 25802485, 26234941, 34064005, 34781300, 36499293, 7966198, 8434607, 9529339
Nystagmus Pathologic Associate 34064005
Retinal Diseases Associate 37191617
Strabismus Associate 34064005
Vision Disorders Stimulate 8434607