Homo sapiens Gene: NYX
Summary
InnateDB Gene IDBG-57570.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol NYX
Gene Name nyctalopin
Synonyms CLRP; CSNB1; CSNB1A; CSNB4; NBM1;
Species Homo sapiens
Ensembl Gene ENSG00000188937
Encoded Proteins
nyctalopin
nyctalopin
Protein Structure
Entrez Gene
Summary 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 (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:41306687-41334963
Strand Forward strand
Band p11.4
Transcripts
ENST00000342595 ENSP00000340328
ENST00000378220 ENSP00000367465
ENST00000486842
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0007601 visual perception
GO:0008150 biological_process
GO:0050896 response to stimulus
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005622 intracellular
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9GZU5
TrEMBL
UniProt Splice Variant
Entrez Gene 60506
UniGene Hs.302019
RefSeq NM_022567
HUGO 8082
OMIM 300278
CCDS CCDS14256
HPRD 02232
IMGT
EMBL AF254868 AJ278865 BC112242 CH471141 Z93015
GenPept AAG42685 AAI12243 CAC19014 CAI42364 EAW59399 EAW59401
ImmGen NYX (murine)
RNA Seq Atlas 60506