NDP Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NDP |
| Official Name | norrin cystine knot growth factor NDP [Source:HGNC Symbol;Acc:HGNC:7678] |
| Ensembl ID | ENSG00000124479 |
| Bio databases IDs | |
| Aliases | norrin cystine knot growth factor NDP |
| Synonyms | EVR2, FEVR, LOC100909913, ND, NDPH, Norrie disease (pseudoglioma) (human), NORRIN, norrin cystine knot growth factor NDP, RGD1563968 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NDP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycoprotein hormone beta chain homologues
- frizzled binding
- protein homodimerization
- protein binding
- cytokine
- growth factor
Pathways
Biological processes and signaling networks where the NDP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- atrophia bulborum hereditaria
- hearing loss
- X-linked familial exudative vitreoretinopathy
- disrupted blood brain barrier
- cervical small cell carcinoma
- extrapulmonary small cell cancer
- epithelial uterine cancer
- cervical cancer
- age-related hearing loss
role in cell
- formation
- proliferation
- expression in
- migration
- cell death
- apoptosis
- degeneration
- cell viability
- number
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- Plasma Membrane
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- microglia differentiation
- retinal rod cell differentiation
- exploration behavior
- vacuole organization
- nervous system development
- transforming growth factor beta receptor signaling pathway
- transcription from RNA polymerase II promoter
- endothelial cell differentiation
- response to axon injury
- decidualization
- lens development in camera-type eye
- protein targeting to lysosome
- mitotic cell cycle
- glycine metabolic process
- optic nerve development
- re-entry into mitotic cell cycle
- ubiquitin-dependent endocytosis
- inflammatory response
- angiogenesis
- retinal pigment epithelium development
- positive regulation of transcription, DNA-dependent
- canonical Wnt receptor signaling pathway
- regulation of action potential
- cellular response to hypoxia
- neuron apoptotic process
- retinal ganglion cell axon guidance
- establishment of blood-brain barrier
- smoothened signaling pathway
- tricarboxylic acid cycle
- visual perception
- dendritic spine development
- retinal blood vessel morphogenesis
- blood vessel remodeling
- glutathione metabolic process
- extracellular matrix-cell signaling
- retina layer formation
- positive regulation of protein kinase B signaling cascade
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cell surface
Molecular Function
What the gene product does at the molecular level
- frizzled binding
- protein binding
- protein homodimerization activity
- cytokine activity