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  2. NYX - nyctalopin Gene

NYX - nyctalopin Gene

中文名称:夜葵素

种属: Homo sapiens

同用名: CLRP; NBM1; CSNB1; CSNB4; CSNB1A

基因 ID: 60506 | 基因类型: protein coding

关于 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.

功能概要

该基因的产物属于富含亮氨酸的小蛋白多糖 (SLRP) 蛋白质家族。该基因的缺陷是导致 1 型先天性静止性夜盲 (CSNB1) 的原因,也称为 X 连锁先天性静止性夜盲 (XLCSNB) 。 CSNB1 是一种罕见的遗传性视网膜疾病,其特征是暗视觉受损、近视、远视、眼球震颤和视力下降。其他 SLRP 蛋白的作用表明,该基因的突变破坏了涉及 ON-双极细胞的视网膜互连的发展,导致完全 CSNB 患者出现视力丧失。[RefSeq 提供,2008 年 10 月]

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 基因产物(2)

mRNA Protein Name
NM_001378477.3 NP_001365406.2 nyctalopin precursor
NM_022567.3 NP_072089.2 nyctalopin precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NYX 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (30 - 61)

LRR_8

LRR_8: Leucine rich repeat (66 - 120)

LRR_8

LRR_8: Leucine rich repeat (207 - 266)

LRR_8

LRR_8: Leucine rich repeat (279 - 323)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 481 a.a.
蛋白主名 其他名称

nyctalopin

leucine-rich repeat protein

NYX 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NYX Q9GZU5 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
种属内
NYX Q9GZU5 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
种属内
NYX Q9GZU5 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
种属内
NYX Q9GZU5 RBMX Homo sapiens P38159
Y2H Prey Pooling
32296183
种属内
NYX Q9GZU5 RBMX Homo sapiens P38159
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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