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
IDBP-57572 nyctalopin
IDBP-57574 nyctalopin
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
Accession GO Term
Molecular Function
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
ENSMUSG00000051228 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000046407 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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