Gene
nherf1b
- ID
- ZDB-GENE-170530-6
- Name
- NHERF family PDZ scaffold protein 1b
- Symbol
- nherf1b Nomenclature History
- Previous Names
-
- slc9a3r1b
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Predicted to enable protein-membrane adaptor activity and signaling receptor binding activity. Predicted to be involved in protein localization to plasma membrane. Predicted to act upstream of or within Wnt signaling pathway. Predicted to be located in several cellular components, including filopodium; microvillus; and ruffle. Predicted to be active in apical plasma membrane. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human NHERF1 (NHERF family PDZ scaffold protein 1).
- Genome Resources
-
- Alliance (1)
- Gene:100329719 (1)
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypophosphatemic nephrolithiasis/osteoporosis 2 | Alliance | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EBP50, C-terminal | Na+/H+ exchange regulatory cofactor | Na(+)/H(+) exchange regulatory cofactor NHERF-1/2 | PDZ domain | PDZ superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BLP8 | InterPro | 373 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance