NDP - norrin cystine knot growth factor NDP Gene

Homo sapiens

Also known as ND; EVR2; FEVR

Gene ID: 4693 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_000266.4	NP_000257.1	norrin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cytokine activity	IDA IDA: Inferred from direct assay	17955262	GOA
enables frizzled binding	IPI IPI: Inferred from physical interaction	17955262	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17955262	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	17955262	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Norrin signaling pathway	IDA IDA: Inferred from direct assay	15035989	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15035989	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	17955262	GOA
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	15035989	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	17955262	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

NDP Protein Structure

Cys_knot

0
100
133 a.a.

Protein Preferred Names

Protein Names

norrin

NDP, norrin cystine knot growth factor

Recombinant NDP Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79131	Norrin Protein, Mouse	P48744 (K25-S131)	≥95%

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-107139	JNJ-10229570	Antagonist	≥98.0%	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113206	D-Sedoheptulose 7-phosphate		≥98.0%	Unkown
HY-113206A	D-Sedoheptulose-7-phosphate barium		/	Unkown
HY-121183	Aprikalim	Activator	/	Unkown
HY-E70122	Uridylate kinase		/	Unkown
HY-RS09113	NDP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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