Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4693
Gene name	Norrin cystine knot growth factor NDP
Gene symbol	NDP
Synonyms (NCBI Gene)	EVR2FEVRND
Chromosome	X
Chromosome location	Xp11.3
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 vi

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018294	hsa-miR-335-5p	Microarray	18185580
MIRT1178158	hsa-miR-3662	CLIP-seq
MIRT1178159	hsa-miR-3684	CLIP-seq
MIRT1178160	hsa-miR-4698	CLIP-seq
MIRT2051533	hsa-miR-1972	CLIP-seq
MIRT2051534	hsa-miR-4717-5p	CLIP-seq
MIRT2051535	hsa-miR-4755-3p	CLIP-seq
MIRT2051536	hsa-miR-4786-3p	CLIP-seq
MIRT2051537	hsa-miR-503	CLIP-seq
MIRT2391441	hsa-miR-141	CLIP-seq
MIRT2391442	hsa-miR-200a	CLIP-seq
MIRT2391443	hsa-miR-2277-3p	CLIP-seq
MIRT2391444	hsa-miR-3660	CLIP-seq
MIRT2391445	hsa-miR-4293	CLIP-seq
MIRT2391446	hsa-miR-4526	CLIP-seq
MIRT2454970	hsa-miR-2467-3p	CLIP-seq
MIRT2454971	hsa-miR-28-3p	CLIP-seq
MIRT2454972	hsa-miR-3678-3p	CLIP-seq
MIRT2454973	hsa-miR-556-3p	CLIP-seq

Show/Hide all (77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000320	Process	Re-entry into mitotic cell cycle	IEA
GO:0001508	Process	Action potential	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003407	Process	Neural retina development	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005109	Function	Frizzled binding	IPI	17955262
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	17955262
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	17955262, 19837033
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	15035989, 17955262
GO:0005615	Component	Extracellular space	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006544	Process	Glycine metabolic process	IEA
GO:0006563	Process	L-serine metabolic process	IEA
GO:0006622	Process	Protein targeting to lysosome	IEA
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007033	Process	Vacuole organization	TAS	10484772
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8252044
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10484772
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0009986	Component	Cell surface	IDA	17955262
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0035426	Process	Extracellular matrix-cell signaling	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	17955262
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17955262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15035989
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046697	Process	Decidualization	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0060996	Process	Dendritic spine development	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0070086	Process	Ubiquitin-dependent endocytosis	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0097601	Process	Retina blood vessel maintenance	IEA
GO:0110135	Process	Norrin signaling pathway	IBA
GO:0110135	Process	Norrin signaling pathway	IDA	15035989, 17955262
GO:0110135	Process	Norrin signaling pathway	IEA
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA
GO:1990963	Process	Establishment of blood-retinal barrier	IEA

MIM	HGNC	e!Ensembl
300658	7678	ENSG00000124479

Q00604

Protein name

Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)

Protein function

Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated tra

PDB

4MY2 , 5BPU , 5BQ8 , 5BQB , 5BQC , 5BQE , 5CL1 , 8WVX , 8WVY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00007	Cys_knot	37 → 133	Cystine-knot domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269|PubMed:10452356}.

Sequence

MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMV
LLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATY
RYILSCHCEECNS

Sequence length

133

Interactions

View interactions

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrophia bulborum hereditaria	Likely pathogenic; Pathogenic	rs2147204677, rs200594881, rs2147204801, rs2519320479, rs727504031, rs2519315108, rs1235711153, rs104894868, rs104894869, rs104894870, rs104894871, rs104894872, rs104894873, rs28933685, rs104894878 View all (12 more)	RCV001526728 RCV001591803 RCV001824259 RCV002283635 RCV000153538 RCV002471458 RCV002471576 RCV000011426 RCV000011427 RCV000011428 RCV000011429 RCV000011431 RCV000011432 RCV000011433 RCV003334376 RCV000011435 RCV000011436 RCV004585995 RCV000011438 RCV000011439 RCV000011442 RCV000011443 RCV000011444 RCV000011445 RCV002244734 RCV004577256 RCV000415091 RCV001822998
Exudative vitreoretinopathy 2, X-linked	Likely pathogenic; Pathogenic	rs104894868, rs28933684, rs104894878, rs104894874, rs104894876, rs137852220, rs2147204853, rs1460859456	RCV003313916 RCV000011430 RCV000011434 RCV005049330 RCV000011440 RCV000011441 RCV004560503 RCV000626125
Exudative vitreoretinopathy, X-linked	Pathogenic	rs104894874	RCV000011437
High myopia	Likely pathogenic	rs1057518836	RCV000415329
Nystagmus	Likely pathogenic	rs1057518836	RCV000415329
Persistent hyperplastic primary vitreous	Likely pathogenic	rs1057518836	RCV000415329
Retinal detachment	Likely pathogenic	rs1555976049	RCV000626638
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2147204715, rs104894877, rs104894878, rs104894880, rs886043023, rs1057518793	RCV004815579 RCV004816836 RCV004814881 RCV004814882 RCV004816499 RCV004816643
Short lingual frenulum	Likely pathogenic	rs1057518836	RCV000415329

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Coats disease	Uncertain significance	rs869312820	RCV000210236
Familial exudative vitreoretinopathy	Uncertain significance	rs869312820	RCV000210236
Hearing impairment	Conflicting classifications of pathogenicity	rs104894867	RCV001375287
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs73475744	RCV000717799
NDP-related disorder	Uncertain significance; Likely benign	rs2519328899, rs1312190991, rs973765631, rs748513311, rs372300274	RCV003906838 RCV003951898 RCV003981901 RCV003981916 RCV004758131
Nonpapillary renal cell carcinoma	Uncertain significance	rs2147209153	RCV005920704

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	39596324
Anophthalmos	Associate	26130484
Bone Diseases Metabolic	Associate	24715757
Brain Neoplasms	Associate	32182224
Cerebral Amyloid Angiopathy	Associate	29860944
Ciliopathies	Associate	39596324
Coloboma	Associate	26130484
Colonic Neoplasms	Associate	17386109
Colorectal Neoplasms	Associate	17386109, 25005225
Corneal Neovascularization	Associate	38243264
Exudative vitreoretinopathy 1	Associate	16163268
Eye Diseases	Associate	35361573
Familial Exudative Vitreoretinopathies	Associate	14737064, 16163268, 20159111, 20159112, 21151595, 21177847, 23441120, 24715757, 26530129, 27316669, 27720678, 28575650, 30474316, 30820142, 32420371 View all (9 more)
Genetic Diseases X Linked	Associate	16163268
Glioblastoma	Associate	32182224
Microphthalmos	Associate	26130484
Multiple Myeloma	Associate	25268740
Neoplasms	Associate	26954714, 27215396, 32182224
Norrie disease	Associate	14737064, 15799735, 16052165, 16163268, 21151595, 21179243, 27720678, 29133643, 30474316, 33092543, 33588793, 35029917, 35328049, 35361573, 35656167, 37089697, 38146894 View all (2 more)
Pelvic Organ Prolapse	Associate	27818488
Peters anomaly	Associate	25182519
Refsum Disease Infantile	Associate	36362148
Retinal Detachment	Associate	35656167, 38146894
Retinal Diseases	Associate	32420371
Retinal Dystrophies	Associate	39596324
Retinitis	Associate	16052165
Retinitis Pigmentosa	Associate	29133643
Retinopathy of Prematurity	Associate	16052165

NDP (norrin cystine knot growth factor NDP)