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: all
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Genomic context

Location:: Xp11.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (43948776..43973390, complement)
RS_2025_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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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 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)

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

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 cytokine activity	IEA Inferred from Electronic Annotation more info
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IEA Inferred from Electronic Annotation 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 Norrin signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in decidualization	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
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 transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in vacuole organization	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

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.