NDP - norrin cystine knot growth factor NDP Gene

中文名称：诺林胱氨酸结生长因子 NDP

种属: Homo sapiens

同用名: ND; EVR2; FEVR

基因 ID: 4693 | 基因类型: protein coding

关于 NDP

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:43,948,776-43,973,390 (from NCBI)

This gene has 3 transcripts (splice variants), 93 orthologues and is associated with 9 phenotypes. Biased expression in ovary (RPKM 17.5), endometrium (RPKM 9.6) and 3 other tissues.

功能概要

该基因编码的分泌蛋白具有激活 Wnt/β-连环蛋白通路的半胱氨酸结基序。该蛋白质在细胞外基质中形成二硫键连接的寡聚体。该基因的突变导致 Norrie 病和 X 连锁渗出性玻璃体视网膜病变。[RefSeq 提供，2009 年 2 月]

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

NDP 基因产物(1)

mRNA	Protein	Name
NM_000266.4	NP_000257.1	norrin precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cytokine activity	IDA IDA: 通过直接分析推断	17955262	GOA
enables frizzled binding	IPI IPI: 通过物理相互作用推断	17955262	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17955262	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	17955262	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Norrin signaling pathway	IDA IDA: 通过直接分析推断	15035989	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	15035989	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell surface	IDA IDA: 通过直接分析推断	17955262	GOA
located in collagen-containing extracellular matrix	IDA IDA: 通过直接分析推断	15035989	GOA
located in extracellular space	IDA IDA: 通过直接分析推断	17955262	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

NDP 蛋白结构

Cys_knot

0
100
133 a.a.

蛋白主名

其他名称

norrin

NDP, norrin cystine knot growth factor

NDP 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	NDP	Q00604	FZD4	Homo sapiens	Q9ULV1	Anti Tag CoIP	19837033

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 NDP 蛋白

目录号	产品名	蛋白编号	纯度
HY-P79124	Norrin Protein, Human	Q00604 (K25-S133)	≥95%
HY-P79131	Norrin Protein, Mouse	P48744 (K25-S131)	≥95%

关联疾病

疾病名称

别名

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 2, X-Linked

EVR2	Evrx
Fevrx	X-Linked Exudative Vitreoretinopathy 2
Exudative Vitreoretinopathy, Familial, 2	Fevr, X-Linked
Vitreoretinopathy, Exudative 2	Exudative Vitreoretinopathy Familial 2
Fevr X-Linked	X-Linked Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Exudative, X-Linked, Type 2	Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment	Ncrna Disease
Non-Syndromic Congenital Retinal Non-Attachment	Pfvs
Phpv	Persistent Fetal Vasculature Syndrome

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Retinal Detachment

Retinal Detachments	Rhegmatogenous Retinal Detachment
Ruptured Retina With Detachment	Retinal Hole With Detachment

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

Vitreoretinopathy

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity	Retrolental Fibroplasia
EVR1	Criswick-Schepens Syndrome
Rop	Exudative Vitreoretinopathy, Familial, Autosomal Dominant
Fevr, Autosomal Dominant	Premature Retinopathy
Vitreoretinopathy, Exudative 1	Autosomal Dominant Familial Exudative Vitreoretinopathy
Fevr	Vitreoretinopathy, Exudative, Type 1
Retinopathy Of Prematurity Nos	Rlf- [Retrolental Fibroplasia]
Rop - [Retinopathy Of Prematurity]	Terry Syndrome

Retinal Vascular Disease

Retinal Vascular	Retinal Vascular Disorder
Retina Circulation Disorder

Osteoporosis-Pseudoglioma Syndrome

OPPG	Ops
Osteoporosis With Pseudoglioma	Osteogenesis Imperfecta, Ocular Form
Ocular Form Of Osteogenesis Imperfecta	Osteogenesis Imperfecta Ocular Form
Osteoporosis Pseudoglioma Syndrome	Pseudoglioma With Bone Fragility

Ndp-Related Retinopathies

Retinal Telangiectasia

Telangiectasis

Telangiectasia

Leukocoria

Leucocoria

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Vitreous Disease

Disorder Of Vitreous Body

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

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

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

目录号	产品名	作用方式	纯度	Phase
HY-107139	JNJ-10229570	Antagonist	≥98.0%	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-113206	D-Sedoheptulose 7-phosphate		≥98.0%	否
HY-113206A	D-Sedoheptulose-7-phosphate barium		/	否
HY-121183	Aprikalim	Activator	/	否
HY-E70122	Uridylate kinase		/	否
HY-RS09113	NDP Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	NDP	VGNC	VGNC:43678
Mus musculus	NDP	MGD	MGI:102570
Bos taurus	NDP	VGNC	VGNC:31939
Macaca mulatta	NDP	VGNC	VGNC:75150
Rattus norvegicus	NDP	RGD	RGD:1563968
Macaca fascicularis	NDP	NCBI	NCBI:102117357
Others	NDP	NCBI

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