Homo sapiens Gene: NDP
Summary
InnateDB Gene IDBG-58539.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDP
Gene Name Norrie disease (pseudoglioma)
Synonyms EVR2; FEVR; ND;
Species Homo sapiens
Ensembl Gene ENSG00000124479
Encoded Proteins
Norrie disease (pseudoglioma)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome X:43948776-43973504
Strand Reverse strand
Band p11.3
Transcripts
ENST00000378062 ENSP00000367301
ENST00000470584
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005109 frizzled binding
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0042803 protein homodimerization activity
Biological Process
GO:0001890 placenta development
GO:0007033 vacuole organization
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0008283 cell proliferation
GO:0016055 Wnt signaling pathway
GO:0035426 extracellular matrix-cell signaling
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060070 canonical Wnt signaling pathway
GO:0061299 retina vasculature morphogenesis in camera-type eye
Cellular Component
GO:0005615 extracellular space
GO:0009986 cell surface
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
GPCR signaling pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q00604
TrEMBL
UniProt Splice Variant
Entrez Gene 4693
UniGene Hs.522615
RefSeq NM_000266
HUGO HGNC:7678
OMIM 300658
CCDS CCDS14262
HPRD 02404
IMGT
EMBL AK313409 AL034370 BC029901 X65724 X65882
GenPept AAH29901 BAG36203 CAA22268 CAA46639 CAA46713
RNA Seq Atlas 4693