| URN | urn:agi-llid:2127 |
|---|---|
| Connectivity | 27 |
| 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] |
| Pathway | Wnt signaling, canonical pathway |
|---|---|
| altered Wnt signaling, canonical pathway |
| GO Molecular Function | receptor binding |
|---|---|
| growth factor activity |
| GO Cellular Component | extracellular region |
|---|---|
| extracellular space |
| GO Biological Process | cell proliferation |
|---|---|
| response to stimulus | |
| cell-cell signaling | |
| nervous system development | |
| placenta development | |
| sensory perception of sound | |
| visual perception | |
| vacuole organization | |
| signal transduction | |
| Wnt receptor signaling pathway |
| Ariadne Ontology | WNT |
|---|
| Group | WNT |
|---|---|
| extracellular region | |
| cell proliferation | |
| response to stimulus | |
| cell-cell signaling | |
| nervous system development | |
| placenta development | |
| sensory perception of sound | |
| visual perception | |
| vacuole organization | |
| signal transduction | |
| Wnt receptor signaling pathway | |
| receptor binding | |
| growth factor activity | |
| extracellular space |
| 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 | |
| OTTMUSP00000018404 | |
| Norrie disease homolog | |
| norrie disease protein homolog | |
| RGD1563968 | |
| exudative vitreoretinopathy 2 | |
| exudative vitreoretinopathy 2 (X-linked) | |
| exudative vitreoretinopathy II | |
| LOC236713 | |
| LOC368090 | |
| NDP gene | |
| NDP mRNA | |
| Norrie disease (pseudoglioma) gene | |
| Norrie disease (pseudoglioma) protein | |
| Norrie disease gene | |
| Norrie disease gene homolog | |
| OTTHUMP00000023168 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 300658 |
|---|---|
| 305390 | |
| 310600 |
| Mouse chromosome position | X 5.3 cM |
|---|
| GO ID | 0008083 |
|---|---|
| 0016055 | |
| 0008283 | |
| 0007267 | |
| 0007399 | |
| 0001890 | |
| 0050896 | |
| 0007605 | |
| 0007165 | |
| 0007033 | |
| 0007601 | |
| 0005576 | |
| 0005615 | |
| 0005102 |
| Rat chromosome position | Xq12 |
|---|
| Swiss-Prot Accession | Q00604 |
|---|---|
| P48744 | |
| B2R8K6 | |
| Q5JYH5 | |
| Q5CZY6 |
| PIR ID | A57005 |
|---|---|
| S55380 |
| Unigene ID | Hs.522615 |
|---|---|
| Mm.5014 | |
| Rn.45519 |
| KEGG ID | hsa:4693 |
|---|---|
| mmu:17986 | |
| rno:363443 |
| Swiss-Prot ID | NDP_HUMAN |
|---|---|
| NDP_MOUSE |
| Cell Localization | Secreted |
|---|---|
| Extracellular |
| IPI ID | IPI00024054 |
|---|---|
| IPI00114341 | |
| IPI00202252 |
| Homologene ID | 225 |
|---|
| RGD ID | 1563968 |
|---|
| MGI ID | 102570 |
|---|