NDP
Norrin
Also known as: EVR2, NDP_HUMAN, norrin
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q00604
- Gene
- NDP
- Ensembl
- ENSG00000124479
- Chromosome
- X
- Canonical length
- 133 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Vesicles
- Secretome location
- Secreted to extracellular matrix
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
133 residues, UniProt reviewed canonical sequence.
>Q00604|NDP
1 MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH PLYKCSSKMV
61 LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT SKLKALRLRC SGGMRLTATY
121 RYILSCHCEE CNSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NDP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 32 nTPM
- ovary: 32 nTPM
- amygdala: 29 nTPM
- cerebral cortex: 27 nTPM
- cerebellum: 21 nTPM
- epididymis: 21 nTPM
Single-cell type
- granulosa cells: 89 nCPM
- müller glia: 89 nCPM
- decidual stromal cells: 53 nCPM
- ovarian stromal cells: 49 nCPM
- endometrial luminal cells: 41 nCPM
- astrocytes: 35 nCPM
Immune cell
- memory CD4 T-cell: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- thalamus: 28 nTPM
- basal ganglia: 25 nTPM
- midbrain: 25 nTPM
- spinal cord: 24 nTPM
- white matter: 23 nTPM
- medulla oblongata: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NDP.
Disease | AllUniProt
Conditions NDP is implicated in, by any mechanism.
- Norrie disease (ND) MIM:310600
- Vitreoretinopathy, exudative 2 (EVR2) MIM:305390
Disease | GeneticClinVar
87 pathogenic / likely-pathogenic of 215 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Atrophia bulborum hereditaria
- Retinal dystrophy
- Exudative vitreoretinopathy 2, X-linked
- Exudative vitreoretinopathy, X-linked
- High myopia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.88
- gnomAD pLI
- 0.65
- gnomAD missense Z
- 0.97
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- action potential
- angiogenesis
- blood vessel remodeling
- canonical Wnt signaling pathway
- cellular response to hypoxia
- cone retinal bipolar cell differentiation
- decidualization
- dendritic spine development
- endothelial cell differentiation
- establishment of blood-brain barrier
- establishment of blood-retinal barrier
- exploration behavior
- extracellular matrix-cell signaling
- glutathione metabolic process
- glycine metabolic process
- inflammatory response
- L-serine metabolic process
- lens development in camera-type eye
- microglia differentiation
- microglial cell proliferation
- mitotic cell cycle
- nervous system development
- neuron apoptotic process
- Norrin signaling pathway
- optic nerve development
- positive regulation of DNA-templated transcription
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of transcription by RNA polymerase II
- protein targeting to lysosome
- protein ubiquitination
- re-entry into mitotic cell cycle
- response to axon injury
- retina blood vessel maintenance
- retina layer formation
- retinal blood vessel morphogenesis
- retinal ganglion cell axon guidance
- retinal pigment epithelium development
- retinal rod cell differentiation
- smoothened signaling pathway
- transcription by RNA polymerase II
- transforming growth factor beta receptor signaling pathway
- tricarboxylic acid cycle
- ubiquitin-dependent endocytosis
- vacuole organization
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NDP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NDP as an antibody target. Whether an autoantibody or antibody against NDP could matter depends on whether native NDP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NDP is annotated as secreted, so native NDP circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label NDP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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