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
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 16,885,521 bp[2] End 16,911,774 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein homodimerization activity • GO:0005110 frizzled binding • GO:0001948 protein binding • growth factor activity • cytokine activity Cellular component • extracellular matrix • extracellular region • cell surface • extracellular • collagen-containing extracellular matrix Biological process • extracellular matrix-cell signaling • response to stimulus • placentation • cell-cell signaling • positive regulation of sequence-specific DNA binding transcription factor activity • vacuole organization • Wnt signaling pathway • sensory perception of sound • nervous system development • positive regulation of transcription, DNA-templated • canonical Wnt signaling pathway • cellular proliferation • retina vasculature morphogenesis in camera-type eye • signal transduction • visual perception • regulation of 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: 16.89 – 16.91 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000124479 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040138 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: NDP Norrie disease (pseudoglioma)".

External links

• GeneReviews/NIH/NCBI/UW entry on NDP-Related Retinopathies

Further reading

• Berger W, van de Pol D, Warburg M, et al. (1993). "Mutations in the candidate gene for Norrie disease". Hum. Mol. Genet. 1 (7): 461–5. doi:10.1093/hmg/1.7.461. PMID 1307245.
• Black G, Redmond RM (1995). "The molecular biology of Norrie's disease". Eye (London, England). 8 (5): 491–6. doi:10.1038/eye.1994.124. PMID 7835440.
• Masckauchán TN, Kitajewski J (2007). "Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight". Physiology. 21 (3): 181–8. doi:10.1152/physiol.00058.2005. PMID 16714476.
• Berger W, Meindl A, van de Pol TJ, et al. (1993). "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 1 (3): 199–203. doi:10.1038/ng0692-199. PMID 1303235.
• Chen ZY, Hendriks RW, Jobling MA, et al. (1993). "Isolation and characterization of a candidate gene for Norrie disease". Nat. Genet. 1 (3): 204–8. doi:10.1038/ng0692-204. PMID 1303236.
• Berger W, Meindl A, van de Pol TJ, et al. (1993). "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 2 (1): 84. doi:10.1038/ng0992-84a. PMID 1303256.
• Meindl A, Berger W, Meitinger T, et al. (1993). "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins". Nat. Genet. 2 (2): 139–43. doi:10.1038/ng1092-139. PMID 1303264.
• Shastry BS, Hejtmancik JF, Plager DA, et al. (1995). "Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy". Genomics. 27 (2): 341–4. doi:10.1006/geno.1995.1052. PMID 7558002.
• Schuback DE, Chen ZY, Craig IW, et al. (1995). "Mutations in the Norrie disease gene". Hum. Mutat. 5 (4): 285–92. doi:10.1002/humu.1380050403. PMID 7627181.
• Meindl A, Lorenz B, Achatz H, et al. (1995). "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease". Hum. Mol. Genet. 4 (3): 489–90. doi:10.1093/hmg/4.3.489. PMID 7795608.
• Joos KM, Kimura AE, Vandenburgh K, et al. (1995). "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene". Arch. Ophthalmol. 112 (12): 1574–9. doi:10.1001/archopht.1994.01090240080029. PMID 7993212.
• Fuchs S, Xu SY, Caballero M, et al. (1994). "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease". Hum. Mol. Genet. 3 (4): 655–6. doi:10.1093/hmg/3.4.655. PMID 8069314.
• Wong F, Goldberg MF, Hao Y (1993). "Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant". Arch. Ophthalmol. 111 (11): 1553–7. doi:10.1001/archopht.1993.01090110119036. PMID 8240113.
• Chen ZY, Battinelli EM, Fielder A, et al. (1994). "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy". Nat. Genet. 5 (2): 180–3. doi:10.1038/ng1093-180. PMID 8252044.
• Chen ZY, Battinelli EM, Woodruff G, et al. (1994). "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier". Hum. Mol. Genet. 2 (10): 1727–9. doi:10.1093/hmg/2.10.1727. PMID 8268931.
• Meitinger T, Meindl A, Bork P, et al. (1994). "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nat. Genet. 5 (4): 376–80. doi:10.1038/ng1293-376. PMID 8298646.
• Strasberg P, Liede HA, Stein T, et al. (1996). "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif". Hum. Mol. Genet. 4 (11): 2179–80. doi:10.1093/hmg/4.11.2179. PMID 8589700.
• Johnson K, Mintz-Hittner HA, Conley YP, Ferrell RE (1997). "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein". Clin. Genet. 50 (3): 113–5. doi:10.1111/j.1399-0004.1996.tb02363.x. PMID 8946107.