NYX - nyctalopin Gene

Also Known as CLRP; NBM1; CSNB1; CSNB4; CSNB1A

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 60506

About NYX

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,447,343-41,475,652 (from NCBI)

This gene has 3 transcripts (splice variants), 180 orthologues, 22 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

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]

NYX Products (2)

mRNA	Protein	Name
NM_001378477.3	NP_001365406.2	nyctalopin precursor
NM_022567.3	NP_072089.2	nyctalopin precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NYX Protein Structure

LRRNT

LRR_8

0
100
200
300
400
481 a.a.

Protein Preferred Names	Protein Names
nyctalopin	leucine-rich repeat protein

NYX Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	NYX	Q9GZU5	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	NYX	Q9GZU5	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	NYX	Q9GZU5	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	NYX	Q9GZU5	RBMX	Homo sapiens	P38159	Y2H Prey Pooling	32296183
Intra	NYX	Q9GZU5	RBMX	Homo sapiens	P38159	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Night Blindness, Congenital Stationary, Type 1a	Congenital Stationary Night Blindness 1a CSNB1A Hemeralopia-Myopia Myopia-Night Blindness Night Blindness, Congenital Stationary , 1a, X-Linked Congenital Stationary Night Blindness With Myopia Csnb, Complete, X-Linked Night Blindness, Congenital Stationary, With Myopia Nbm1 Complete Csnb X-Linked Congenital Stationary Night Blindness 1a X-Linked Nbmi Night Blindness, Congenital Stationary, 1a Complete X-Linked Csnb Nyctalopia Xlcsnb X-Linked Congenital Stationary Night Blindness Blindness, Night, Stationary, Congenital, Type 1a Night Blindness X-Linked Csnb Night Blindness, Congenital Stationary, Type 2a
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Night Blindness, Congenital Stationary, Type 1e	CSNB1E Congenital Stationary Night Blindness 1e Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1e, Autosomal Recessive Congenital Stationary Night Blindness 1e Autosomal Recessive Night Blindness, Congenital Stationary, 1e Complete Autosomal Recessive Csnb Csnb1 Night Blindness, Congenital Stationary, Type 1 Blindness, Night, Stationary, Congenital, Type 1e
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Night Blindness	Nyctalopia
X-Linked Congenital Stationary Night Blindness	X-Linked Csnb Congenital Stationary Night Blindness With Myopia Hemeralopia-Myopia Myopia-Night Blindness Xlcsnb Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Inherited Retinal Disorder	Retinal Dystrophy
Night Blindness, Congenital Stationary, Type 2a	Congenital Stationary Night Blindness 2a CSNB2A Csnb2 Csnb, Incomplete, X-Linked Night Blindness, Congenital Stationary, Type 2 Night Blindness, Congenital Stationary , 2a, X-Linked Congenital Stationary Night Blindness 2a X-Linked Night Blindness, Congenital Stationary, 2a Congenital Stationary Night Blindness Type 2 Incomplete X-Linked Csnb Night Blindness, Congenital Stationary, X-Linked, Type 2a Blindness, Night, Stationary, Congenital, Type 2a
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Oguchi Disease	Stationary Night Blindness, Oguchi Type Congenital Stationary Night Blindness, Oguchi Type Oguchi Syndrome Oguchis Disease
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Night Blindness, Congenital Stationary, Type 1b	Congenital Stationary Night Blindness 1b CSNB1B Night Blindness, Congenital Stationary, Complete, Autosomal Recessive Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1b, Autosomal Recessive Autosomal Recessive Complete Congenital Stationary Night Blindness Congenital Stationary Night Blindness 1b Autosomal Recessive Night Blindness, Congenital Stationary, 1b Complete Autosomal Recessive Csnb Complete Congenital Stationary Night Blindness Autosomal Recessive Blindness, Night, Stationary, Congenital, Type 1b
Night Blindness, Congenital Stationary, Type 1c	Congenital Stationary Night Blindness 1c CSNB1C Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1c, Autosomal Recessive Congenital Stationary Night Blindness 1c Autosomal Recessive Night Blindness, Congenital Stationary, 1c Complete Autosomal Recessive Csnb Night Blindness, Congenital Stationary, Type Ic Blindness, Night, Stationary, Congenital, Type 1c
Aland Island Eye Disease	AIED Forsius-Eriksson Type Ocular Albinism Forsius-Eriksson Syndrome Autoimmune Inner Ear Disease Forsius Eriksson Type Ocular Albinism Aland Islands Eye Disease Aaland Island Eye Disease Ocular Albinism, Type Ii
Osteogenesis Imperfecta, Type Xiv	Osteogenesis Imperfecta Type 14 OI14 Osteogenesis Imperfecta Type Xiv Oi, Type Xiv Osteogenesis Imperfecta 14 Oi Type Xiv Oi-Xiv
Refractive Amblyopia	Ametropic Amblyopia
Refractive Error	Refractive Errors
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Glycerol Kinase Deficiency	Hyperglycerolemia GKD Gk Deficiency Gk1 Deficiency Deficiency Of Glycerol Kinase Isolated Glycerol Kinase Deficiency Glycerol Kinase Deficiency, Adult Form Glycerol Kinase Deficiency, Juvenile Form Deficiency, Glycerol Kinase
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Norrie Disease	Atrophia Bulborum Hereditaria Episkopi Blindness Pseudoglioma ND Norrie-Warburg Disease Anderson-Warburg Syndrome Fetal Iritis Syndrome Norrie Syndrome Norrie-Warburg Syndrome Ndp Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Norrie'S Disease Oligophrenia Microphthalmus Pseudoglioma Congenita Whitnall-Norman Syndrome
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-135741	NYX-2925	Modulator	98.98%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-156626	Nevadistinel	Modulator	/	Unkown
HY-156634	Risevistinel	Modulator	/	Unkown
HY-RS09724	NYX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22083	Nyx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28603	Nyx Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	NYX	VGNC	VGNC:44084
Macaca mulatta	NYX	VGNC	VGNC:75569
Rattus norvegicus	NYX	RGD	RGD:1561300
Mus musculus	NYX	MGD	MGI:2448607
Bos taurus	NYX	VGNC	VGNC:32388
Others	NYX	NCBI