Norrin

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.^[5] Mutations in the NDP gene are associated with the Norrie disease.

NDP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4MY2, 5BPU, 5BQ8, 5BQB, 5BQC, 5BQE, 5CL1
Identifiers
Aliases	NDP, EVR2, FEVR, ND, Norrie disease (pseudoglioma), norrin cystine knot growth factor, norrin cystine knot growth factor NDP
External IDs	OMIM: 300658; MGI: 102570; HomoloGene: 225; GeneCards: NDP; OMA:NDP - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.3 Start 43,948,776 bp[1] End 43,973,395 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.2|X 12.07 cM Start 16,751,760 bp[2] End 16,778,013 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in optic nerve decidua caudate nucleus putamen amygdala nucleus accumbens Brodmann area 9 right frontal lobe internal globus pallidus external globus pallidus Top expressed in lumbar spinal ganglion respiratory epithelium olfactory epithelium sciatic nerve dentate gyrus of hippocampal formation granule cell stria vascularis entorhinal cortex CA3 field perirhinal cortex cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity frizzled binding protein binding growth factor activity cytokine activity Cellular component extracellular matrix extracellular region cell surface extracellular space collagen-containing extracellular matrix Biological process extracellular matrix-cell signaling response to stimulus placenta development cell-cell signaling positive regulation of DNA-binding transcription factor activity vacuole organization Wnt signaling pathway hearing nervous system development positive regulation of transcription, DNA-templated canonical Wnt signaling pathway cell population proliferation retina vasculature morphogenesis in camera-type eye signal transduction visual perception regulation of signaling receptor activity Norrin signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4693 17986 Ensembl ENSG00000124479 ENSMUSG00000040138 UniProt Q00604 P48744 RefSeq (mRNA) NM_000266 NM_010883 RefSeq (protein) NP_000257 NP_035013 Location (UCSC) Chr X: 43.95 – 43.97 Mb Chr X: 16.75 – 16.78 Mb PubMed search [3] [4]
Wikidata
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Function

Signaling induced by the protein Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear.^[5] Norrin binds with high affinity to Frizzled 4, and Frizzled 4 knockout mice exhibit abnormal vascular development of the retina.

Clinical significance

NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina (pseudoglioma).^[5]