| URN | urn:agi-llid:2127 |
|---|---|
| Total Entities | 0 |
| Connectivity | 83 |
| Name | Ndp |
| Description | Norrie disease (pseudoglioma) |
| Notes | 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] |
| Ariadne Ontology | WNT |
|---|---|
| Secreted proteins |
| GO Molecular Function | cell surface binding |
|---|---|
| receptor binding | |
| growth factor activity | |
| cytokine activity | |
| frizzled binding | |
| protein homodimerization activity |
| GO Cellular Component | extracellular matrix |
|---|---|
| extracellular region | |
| extracellular space |
| GO Biological Process | cell proliferation |
|---|---|
| cell-cell signaling | |
| extracellular matrix-cell signaling | |
| signal transduction | |
| Wnt receptor signaling pathway | |
| canonical Wnt receptor signaling pathway | |
| positive regulation of transcription, DNA-dependent | |
| positive regulation of sequence-specific DNA binding transcription factor activity | |
| vacuole organization | |
| nervous system development | |
| placenta development | |
| retina vasculature morphogenesis in camera-type eye | |
| visual perception | |
| sensory perception of sound |
| Pathway | Wnt signaling, canonical pathway |
|---|---|
| altered Wnt signaling, canonical pathway | |
| Wnt signaling, canonical pathway |
| Group | WNT |
|---|---|
| cell proliferation | |
| cell-cell signaling | |
| extracellular matrix-cell signaling | |
| signal transduction | |
| Wnt receptor signaling pathway | |
| canonical Wnt receptor signaling pathway | |
| positive regulation of transcription, DNA-dependent | |
| positive regulation of sequence-specific DNA binding transcription factor activity | |
| vacuole organization | |
| nervous system development | |
| placenta development | |
| retina vasculature morphogenesis in camera-type eye | |
| visual perception | |
| sensory perception of sound | |
| cell surface binding | |
| receptor binding | |
| growth factor activity | |
| cytokine activity | |
| frizzled binding | |
| protein homodimerization activity | |
| extracellular matrix | |
| extracellular region | |
| extracellular space | |
| Secreted proteins |
| MedScan ID | 2127 |
|---|
| Hugo ID | 7678 |
|---|
| Human chromosome position | Xp11.4 |
|---|
| LocusLink ID | 2127 |
|---|---|
| 4693 | |
| 17986 | |
| 363443 |
| Alias | ND |
|---|---|
| EVR2 | |
| FEVR | |
| norrin | |
| norrie disease protein | |
| X-linked exudative vitreoretinopathy 2 protein | |
| Ndph | |
| RP23-167N17.1 | |
| Norrie disease homolog | |
| norrie disease protein homolog | |
| RGD1563968 | |
| Norrie disease gene | |
| Norrie disease gene homolog | |
| OTTMUSP00000018404 | |
| OTTHUMP00000023168 | |
| NDP mRNA | |
| NDP gene | |
| LOC368090 | |
| LOC236713 | |
| exudative vitreoretinopathy II | |
| exudative vitreoretinopathy 2 (X-linked) | |
| exudative vitreoretinopathy 2 | |
| Norrie disease (pseudoglioma) gene | |
| Norrie disease (pseudoglioma) protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 300658 |
|---|---|
| 310600 | |
| 305390 |
| Unigene ID | Hs.522615 |
|---|---|
| Mm.5014 | |
| Rn.45519 |
| KEGG ID | hsa:4693 |
|---|---|
| mmu:17986 | |
| rno:363443 |
| Swiss-Prot Accession | Q00604 |
|---|---|
| P48744 | |
| D3ZEP2 | |
| B2R8K6 | |
| Q5JYH5 | |
| Q5CZY6 |
| GO ID | 0043498 |
|---|---|
| 0005125 | |
| 0005109 | |
| 0008083 | |
| 0042803 | |
| 0016055 | |
| 0060070 | |
| 0008283 | |
| 0007267 | |
| 0035426 | |
| 0007399 | |
| 0001890 | |
| 0051091 | |
| 0045893 | |
| 0061299 | |
| 0007605 | |
| 0007165 | |
| 0007033 | |
| 0007601 | |
| 0031012 | |
| 0005615 | |
| 0005576 | |
| 0005102 | |
| 0050896 |
| PIR ID | A57005 |
|---|---|
| S55380 |
| Swiss-Prot ID | NDP_HUMAN |
|---|---|
| NDP_MOUSE |
| Cell Localization | Secreted |
|---|---|
| Extracellular |
| IPI ID | IPI00024054 |
|---|---|
| IPI00114341 | |
| IPI00202252 |
| Mouse chromosome position | X 5.3 cM |
|---|
| Rat chromosome position | Xq12 |
|---|
| Homologene ID | 225 |
|---|
| MGI ID | 102570 |
|---|
| RGD ID | 1563968 |
|---|
| Primary Cell Localization | Extracellular |
|---|