NDP norrin cystine knot growth factor NDP [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDPprovided by HGNC
Official Full Name: norrin cystine knot growth factor NDPprovided by HGNC
Primary source: HGNC:HGNC:7678
See related: Ensembl:ENSG00000124479 MIM:300658; AllianceGenome:HGNC:7678
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ND; EVR2; FEVR
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]
Expression: Biased expression in ovary (RPKM 17.5), endometrium (RPKM 9.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (43948776..43973390, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (43354970..43379584, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (43808022..43832636, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/beta-Catenin Pathway Activation.
Title: Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Title: Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
NDP-related retinopathies: clinical phenotype of female carriers.
Title: NDP-related retinopathies: clinical phenotype of female carriers.
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Title: Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Title: A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Title: Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Title: Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Ocular manifestations of Chinese patients with copy number variants in the NDP gene.
Title: Ocular manifestations of Chinese patients with copy number variants in the NDP gene.
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.
Title: Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.
Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.
Title: Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atrophia bulborum hereditaria MedGen: C0266526 OMIM: 310600 GeneReviews: Not available	not available
Exudative vitreoretinopathy 2, X-linked MedGen: C1844579 OMIM: 305390 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-06-14) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-14) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of Norrie disease protein (NDP) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF020217 (e-PCR)
- UniSTS:75018

GDB:607650 (e-PCR)
- UniSTS:158255

GDB:607659 (e-PCR)
- UniSTS:158257

GDB:607664 (e-PCR)
- UniSTS:158258

GDB:607667 (e-PCR)
- UniSTS:158259

GDB:607670 (e-PCR)
- UniSTS:158260

GDB:607683 (e-PCR)
- UniSTS:158264

GDB:607687 (e-PCR)
- UniSTS:158265

GDB:511265 (e-PCR)
- UniSTS:157498

PMC24149P5 (e-PCR)
- UniSTS:272236

NDP (e-PCR)
- UniSTS:99471

SHGC-12355 (e-PCR)
- UniSTS:64918

STS-X65724 (e-PCR)
- UniSTS:71366

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Norrin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Norrin signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in action potential	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cone retinal bipolar cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in decidualization	IEA Inferred from Electronic Annotation more info
involved_in dendritic spine development	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in establishment of blood-brain barrier	IEA Inferred from Electronic Annotation more info
involved_in establishment of blood-retinal barrier	IEA Inferred from Electronic Annotation more info
involved_in exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in glutathione metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in microglia differentiation	IEA Inferred from Electronic Annotation more info
involved_in microglial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in optic nerve development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to lysosome	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in re-entry into mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in retina blood vessel maintenance	IEA Inferred from Electronic Annotation more info
involved_in retina layer formation	IEA Inferred from Electronic Annotation more info
involved_in retinal blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info
involved_in retinal pigment epithelium development	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent endocytosis	IEA Inferred from Electronic Annotation more info
involved_in vacuole organization	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: norrin

Names: NDP, norrin cystine knot growth factor; Norrie disease (pseudoglioma); X-linked exudative vitreoretinopathy 2 protein; norrie disease protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.