• Gene id: 4693

Gene Summary

• Gene Symbol: NDP   Gene   UCSC   Ensembl
• Aliases: EVR2, FEVR, ND
• Gene name: norrin cystine knot growth factor NDP
• Alternate names: norrin, NDP, norrin cystine knot growth factor, Norrie disease (pseudoglioma), X-linked exudative vitreoretinopathy 2 protein, norrie disease protein,
• Gene location: Xp11.3 (53366105: 52872629)     Exons: 14     NC_000004.12
• Gene summary(Entrez): 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 vi
• OMIM: 300658

Protein Summary

• Protein general information: Q00604  
  • Name: Norrin (Norrie disease protein) (X linked exudative vitreoretinopathy 2 protein)
  • Length: 133  
  • Mass: 15044
  • Tissue specificity: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO
• Sequence:

  MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRS
  EPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS

• Structural information:
  • Protein Domains: (39..13-)
    (/note="CTCK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00039"-)
  • Interpro: IPR006207  IPR029034  IPR006208  IPR003064  
  • Prosite: PS01185 PS01225
  • PDB: 4MY2 5BPU 5BQ8 5BQB 5BQC 5BQE 5CL1
  • PDBsum: 4MY2 5BPU 5BQ8 5BQB 5BQC 5BQE 5CL1
  • STRING: ENSP00000367301
• Other Databases: GeneCards:  NDP  Malacards:  NDP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007033	vacuole organization	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001890	placenta development	IEA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0110135	Norrin signaling pathway	IEA	biological process
GO:0005109	frizzled binding	IEA	molecular function
GO:0035426	extracellular matrix-cell signaling	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0061299	retina vasculature morphogenesis in camera-type eye	IEA	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0110135	Norrin signaling pathway	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0110135	Norrin signaling pathway	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Familial exudative vitreoretinopathy	KEGG:H00589
Norrie disease	KEGG:H02045
Familial exudative vitreoretinopathy	KEGG:H00589
Norrie disease	KEGG:H02045
X-linked exudative vitreoretinopathy	PMID:8252044
Retinopathy of prematurity	PMID:9152134
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)