Gene
ndp
- ID
- ZDB-GENE-060216-2
- Name
- norrin cystine knot growth factor NDP
- Symbol
- ndp Nomenclature History
- Previous Names
-
- si:ch211-222m21.5
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity and frizzled binding activity. Acts upstream of or within retina vasculature development in camera-type eye. Predicted to be located in extracellular space. Predicted to be active in collagen-containing extracellular matrix. Human ortholog(s) of this gene implicated in Norrie disease; X-linked exudative vitreoretinopathy 2; and retinopathy of prematurity. Orthologous to human NDP (norrin cystine knot growth factor NDP).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Wu et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa41464 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Norrie disease | Alliance | Norrie disease | 310600 |
| X-linked exudative vitreoretinopathy 2 | Alliance | Exudative vitreoretinopathy 2, X-linked | 305390 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cystine knot, C-terminal | Cystine-knot cytokine | DAN | Norrie disease protein |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QKA4 | InterPro | 138 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-222M21 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021478990 (1) | 2615 nt | ||
| Genomic | GenBank:BX572627 (1) | 209758 nt | ||
| Polypeptide | UniProtKB:A0A8M9QKA4 (1) | 138 aa |
- Wu, J.H., Liu, J.H., Ko, Y.C., Wang, C.T., Chung, Y.C., Chu, K.C., Liu, T.T., Chao, H.M., Jiang, Y.J., Chen, S.J., Chung, M.Y. (2016) Haploinsufficiency of RCBTB1 is Associated with Coats Disease and Familial Exudative Vitreoretinopathy. Human molecular genetics. 25(8):1637-47
- Katoh, M., and Katoh, M. (2005) Comparative genomics on Norrie disease gene. International journal of molecular medicine. 15(5):885-889
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