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Exudative Vitreoretinopathy 2 (EVR2)

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NDP; Norrin; Norrie Disease; X-linked exudative vitreoretinopathy 2 protein

Exudative Vitreoretinopathy 2 (EVR2)
CCC P851
HGNC 7678
MGI 102570
PubMed 12172548
RGD 1563968
UniProt Q00604
The NDP gene encodes norrin, a secreted cysteine-rich protein that belongs to the cystine knot growth factor family .only exons 2 and 3 of the NDP gene are translated. Exon 2 contains the first 58 codons of the open reading frame. The intron that follows it is roughly 14.5 kb. Exon 3 is the largest exon and contains residues 59-133 of the open reading frame and a 917-bp 3-prime untranslated region.NDP protein has a tertiary structure similar to that of transforming growth factor-beta. The model identified NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiologic role of NDP.NDP gene spans 28 kb and contains 3 exons, the first of which is entirely contained within the 5-prime untranslated region.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exudative Vitreoretinopathy 2 (EVR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exudative Vitreoretinopathy 2 (EVR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exudative Vitreoretinopathy 2 (EVR2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exudative Vitreoretinopathy 2 (EVR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exudative Vitreoretinopathy 2 (EVR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exudative Vitreoretinopathy 2 (EVR2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exudative Vitreoretinopathy 2 (EVR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exudative Vitreoretinopathy 2 (EVR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exudative Vitreoretinopathy 2 (EVR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exudative Vitreoretinopathy 2 (EVR2) ELISA Kit Customized Service Offer
  1. "Isolation of a candidate gene for Norrie disease by positional cloning."Nat. Genet. 1:199-203(1992) [PubMed] [Europe PMC] [Abstract]
  2. ErratumNat. Genet. 2:84-84(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Isolation and characterization of a candidate gene for Norrie disease."Nat. Genet. 1:204-208(1992) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix."J. Biol. Chem. 272:33410-33415(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Localization of the Norrie disease gene mRNA by in situ hybridization."Brain Res. Bull. 49:355-358(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure."Nat. Genet. 5:376-380(1993) [PubMed] [Europe PMC] [Abstract]
  10. "Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex."Genes Dev. 27:2305-2319(2013) [PubMed] [Europe PMC] [Abstract]
  11. "Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families."Hum. Mol. Genet. 2:1953-1955(1993) [PubMed] [Europe PMC] [Abstract]
  12. "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease."Hum. Mol. Genet. 3:655-656(1994) [PubMed] [Europe PMC] [Abstract]
  13. "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene."Arch. Ophthalmol. 112:1574-1579(1994) [PubMed] [Europe PMC] [Abstract]
  14. "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins."Nat. Genet. 2:139-143(1992) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the candidate gene for Norrie disease."Hum. Mol. Genet. 1:461-465(1992) [PubMed] [Europe PMC] [Abstract]
  16. "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier."Hum. Mol. Genet. 2:1727-1729(1993) [PubMed] [Europe PMC] [Abstract]
  17. "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy."Nat. Genet. 5:180-183(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations in the Norrie disease gene: a new mutation in a Japanese family."Br. J. Ophthalmol. 79:703-704(1995) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in the Norrie disease gene."Hum. Mutat. 5:285-292(1995) [PubMed] [Europe PMC] [Abstract]
  20. "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease."Hum. Mol. Genet. 4:489-490(1995) [PubMed] [Europe PMC] [Abstract]
  21. "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif."Hum. Mol. Genet. 4:2179-2180(1995) [PubMed] [Europe PMC] [Abstract]
  22. "Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype."Acta Ophthalmol. Scand. Suppl. 219:13-16(1996) [PubMed] [Europe PMC] [Abstract]
  23. "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein."Clin. Genet. 50:113-115(1996) [PubMed] [Europe PMC] [Abstract]
  24. "Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome."Hum. Mutat. 8:85-88(1996) [PubMed] [Europe PMC] [Abstract]
  25. "Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy."Am. J. Med. Genet. 72:242-244(1997) [PubMed] [Europe PMC] [Abstract]
  26. "Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively."Hum. Mutat. 9:53-56(1997) [PubMed] [Europe PMC] [Abstract]
  27. "Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy."Hum. Mutat. 9:396-401(1997) [PubMed] [Europe PMC] [Abstract]
  28. "Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency."Hum. Mutat. 9:402-408(1997) [PubMed] [Europe PMC] [Abstract]
  29. "Norrie disease and exudative vitreoretinopathy in families with affected female carriers."Eur. J. Ophthalmol. 9:238-242(1999) [PubMed] [Europe PMC] [Abstract]
  30. "Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis."Hum. Mol. Genet. 8:2031-2035(1999) [PubMed] [Europe PMC] [Abstract]
  31. "Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier."Am. J. Med. Genet. 100:52-55(2001) [PubMed] [Europe PMC] [Abstract]
  32. "NDP gene mutations in 14 French families with Norrie disease."Hum. Mutat. 22:499-499(2003) [PubMed] [Europe PMC] [Abstract]
  33. "A novel missense Norrie disease mutation associated with a severe ocular phenotype."J. Pediatr. Ophthalmol. Strabismus 41:361-363(2004) [PubMed] [Europe PMC] [Abstract]
  34. "Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR."Mol. Vis. 11:705-712(2005) [PubMed] [Europe PMC] [Abstract]
  35. "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity."Clin. Exp. Ophthalmol. 34:682-688(2006) [PubMed] [Europe PMC] [Abstract]
  36. "Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein."Eye 20:234-241(2006) [PubMed] [Europe PMC] [Abstract]
  37. "Gene symbol: NDP. Disease: Norrie disease."Hum. Genet. 119:675-675(2006) [PubMed] [Europe PMC] [Abstract]
  38. "A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms."Am. J. Med. Genet. A 143:921-924(2007) [PubMed] [Europe PMC] [Abstract]
  39. "Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene."Arch. Ophthalmol. 125:225-230(2007) [PubMed] [Europe PMC] [Abstract]
  40. "Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy."Invest. Ophthalmol. Vis. Sci. 48:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
  41. "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."Hum. Mutat. 31:656-666(2010) [PubMed] [Europe PMC] [Abstract]