NYX (nyctalopin)

2014-11-01 Affiliation

Identity

HGNC

NYX

LOCATION

Xp11.4

LOCUSID

60506

ALIAS

CLRP,CSNB1,CSNB1A,CSNB4,NBM1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 60506
MIM: 300278
HGNC: 8082
Ensembl: ENSG00000188937

Variants:

dbSNP: 60506
ClinVar: 60506
TCGA: ENSG00000188937
COSMIC: NYX

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188937	ENST00000342595	Q9GZU5
ENSG00000188937	ENST00000378220	Q9GZU5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
12506099	2003	Identification of the gene and the mutation responsible for the mouse nob phenotype.	48
21832182	2011	TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.	44
16553780	2006	Localization of nyctalopin in the mammalian retina.	36
23714322	2013	Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.	29
15331616	2005	Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.	18
17392683	2007	Mutations in NYX of individuals with high myopia, but without night blindness.	18
17392683	2007	Mutations in NYX of individuals with high myopia, but without night blindness.	18
15761389	2005	Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.	14
12552565	2003	Mutations in the CACNA1F and NYX genes in British CSNBX families.	11
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	11

Citation

Dessen P

NYX (nyctalopin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71077/nyx