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Aliases for NYX Gene

Aliases for NYX Gene

  • Nyctalopin 2 3
  • CSNB1A 3 6
  • NBM1 3 6
  • CLRP 3 4
  • Leucine-Rich Repeat Protein 3
  • CSNB1 3
  • CSNB4 3

External Ids for NYX Gene

Previous Symbols for NYX Gene

  • CSNB1
  • CSNB4

Summaries for NYX Gene

Entrez Gene Summary for NYX 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 (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]

GeneCards Summary for NYX Gene

NYX (Nyctalopin) is a Protein Coding gene. Diseases associated with NYX include x-linked congenital stationary night blindness and irregular astigmatism. An important paralog of this gene is RTN4R.

Gene Wiki entry for NYX Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NYX Gene

Genomics for NYX Gene

Genomic Location for NYX Gene

Start:
41,447,434 bp from pter
End:
41,475,710 bp from pter
Size:
28,277 bases
Orientation:
Plus strand

Genomic View for NYX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NYX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NYX Gene

Regulatory Elements for NYX Gene

Proteins for NYX Gene

  • Protein details for NYX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZU5-NYX_HUMAN
    Recommended name:
    Nyctalopin
    Protein Accession:
    Q9GZU5
    Secondary Accessions:
    • D3DWC0
    • Q2M1S4
    • Q5H983
    • Q9H4J0

    Protein attributes for NYX Gene

    Size:
    481 amino acids
    Molecular mass:
    52000 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NYX Gene

Proteomics data for NYX Gene at MOPED

Post-translational modifications for NYX Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn97, Asn183, Asn300, Asn393, Asn432, and Asn439

Other Protein References for NYX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NYX Gene

Domains for NYX Gene

UniProtKB/Swiss-Prot:

NYX_HUMAN
Domain:
  • Contains 1 LRRCT domain.:
    • Q9GZU5
  • Contains 1 LRRNT domain.:
    • Q9GZU5
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily.:
    • Q9GZU5
Similarity:
  • Contains 11 LRR (leucine-rich) repeats.:
    • Q9GZU5
genes like me logo Genes that share domains with NYX: view

No data available for Gene Families for NYX Gene

Function for NYX Gene

Gene Ontology (GO) - Molecular Function for NYX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NYX: view
genes like me logo Genes that share phenotypes with NYX: view

miRNA for NYX Gene

miRTarBase miRNAs that target NYX

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NYX Gene

Localization for NYX Gene

Subcellular locations from UniProtKB/Swiss-Prot for NYX Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NYX Gene COMPARTMENTS Subcellular localization image for NYX gene
Compartment Confidence
extracellular 3
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NYX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005622 intracellular IDA 11062471
genes like me logo Genes that share ontologies with NYX: view

Pathways for NYX Gene

SuperPathways for NYX Gene

No Data Available

Interacting Proteins for NYX Gene

Gene Ontology (GO) - Biological Process for NYX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0008150 biological_process ND --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with NYX: view

No data available for Pathways by source for NYX Gene

Transcripts for NYX Gene

mRNA/cDNA for NYX Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NYX Gene

Nyctalopin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NYX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1: -
SP2:
SP3: -

Relevant External Links for NYX Gene

GeneLoc Exon Structure for
NYX
ECgene alternative splicing isoforms for
NYX

Expression for NYX Gene

mRNA expression in normal human tissues for NYX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NYX Gene

This gene is overexpressed in Kidney - Cortex (25.0) and Testis (15.2).

SOURCE GeneReport for Unigene cluster for NYX Gene Hs.302019

mRNA Expression by UniProt/SwissProt for NYX Gene

Q9GZU5-NYX_HUMAN
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.
genes like me logo Genes that share expressions with NYX: view

Orthologs for NYX Gene

This gene was present in the common ancestor of animals.

Orthologs for NYX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NYX 36
  • 99.65 (n)
  • 99.79 (a)
NYX 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NYX 36
  • 88.7 (n)
  • 85.86 (a)
NYX 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NYX 36
  • 89.59 (n)
  • 87.76 (a)
NYX 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nyx 36
  • 85.51 (n)
  • 85.81 (a)
Nyx 16
Nyx 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NYX 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nyx 36
  • 84.68 (n)
  • 85.36 (a)
chicken
(Gallus gallus)
Aves NYX 36
  • 63.08 (n)
  • 60.77 (a)
NYX 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NYX 37
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nyx 36
  • 55.91 (n)
  • 56.4 (a)
zebrafish
(Danio rerio)
Actinopterygii nyx 36
  • 59.65 (n)
  • 56.22 (a)
nyx 37
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1504 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lron-12 37
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 21 (a)
OneToMany
Species with no ortholog for NYX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NYX Gene

ENSEMBL:
Gene Tree for NYX (if available)
TreeFam:
Gene Tree for NYX (if available)

Paralogs for NYX Gene

Paralogs for NYX Gene

genes like me logo Genes that share paralogs with NYX: view

Variants for NYX Gene

Sequence variations from dbSNP and Humsavar for NYX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs873336 -- 41,470,022(-) GACAC(G/T)CTGCA intron-variant
rs1794675 -- 41,445,645(+) GAAGG(C/G)AAGGT upstream-variant-2KB
rs1794676 -- 41,446,597(+) CTGGG(C/T)GACAG upstream-variant-2KB
rs1794677 -- 41,446,674(+) GCGGG(A/G)GGTAG upstream-variant-2KB
rs1794678 -- 41,446,720(+) AGGTA(C/T)TGCTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NYX Gene

Variant ID Type Subtype PubMed ID
esv33720 CNV Loss 17666407
nsv508763 CNV Insertion 20534489
esv25432 CNV Loss 19812545

Relevant External Links for NYX Gene

HapMap Linkage Disequilibrium report
NYX
Human Gene Mutation Database (HGMD)
NYX
Locus Specific Mutation Databases (LSDB)
NYX

Disorders for NYX Gene

(1) OMIM Diseases for NYX Gene (300278)

UniProtKB/Swiss-Prot

NYX_HUMAN
  • Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. {ECO:0000269 PubMed:11062471, ECO:0000269 PubMed:11062472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for NYX Gene

Disease -log(P) Hits PubMed IDs
csnb1 99 20
night blindness, congenital stationary 98.1 14
csnb2 93.9 3
night blindness 84.8 5
oguchis disease 82.8 1

Relevant External Links for NYX

GeneTests
NYX
GeneReviews
NYX
Genetic Association Database (GAD)
NYX
Human Genome Epidemiology (HuGE) Navigator
NYX
genes like me logo Genes that share disorders with NYX: view

Publications for NYX Gene

  1. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. (PMID: 11062471) Bech-Hansen N.T. … Weleber R.G. (Nat. Genet. 2000) 2 3 4 23
  2. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. (PMID: 11062472) Pusch C.M. … Meindl A. (Nat. Genet. 2000) 2 3 4 23
  3. Mutations in NYX of individuals with high myopia, but without night blindness. (PMID: 17392683) Zhang Q. … Hejtmancik J.F. (Mol. Vis. 2007) 3 23 49
  4. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. (PMID: 14507859) Zeitz C. … Berger W. (Invest. Ophthalmol. Vis. Sci. 2003) 3 23
  5. A common NYX mutation in Flemish patients with X linked CSNB. (PMID: 18617546) Leroy B.P. … Zeitz C. (Br J Ophthalmol 2009) 3 23

Products for NYX Gene

Sources for NYX Gene

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