Also known as EVR2, FEVR, ND, Norrie disease (pseudoglioma), NDP, norrin cystine knot growth factor, norrin cystine knot growth factor NDP
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
In the Vinony graph
Vinony's link graph records 11 inbound references to NDP, and connects out to PubMed, X chromosome and Ensembl genome database project.
It sits within the topics Genes on human chromosome X and Human proteins.
Vinony links it to 6 Wikipedia language editions.
Gene data
NDP- Name
- norrin cystine knot growth factor NDP
- Type
- protein-coding
- Chromosome
- X
- Position
- 43,948,772–43,973,603 (−)
- Aliases
- EVR2, FEVR, ND
- Ensembl
- ENSG00000124479
- RefSeq RNA
- NM_000266.4
- RefSeq protein
- NP_000257.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
norrin cystine knot growth factor NDP
- Symbol
- NDP
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:43,948,772-43,973,603
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 225
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4693
- chromosome
- human X chromosome
- genomic end
- 43973395
- genomic start
- 43808022
- cytogenetic location
- Xp11.3
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
== Function ==
Excerpted from Wikipedia’s “NDP” article, available under the CC BY-SA 4.0 licence.