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 have molecular adaptor activity. Predicted to localize to endomembrane system and membrane. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human SLC9A3R1 (SLC9A3 regulator 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 | Length | EBP50, C-terminal | Na(+)/H(+) exchange regulatory cofactor NHERF-1/2 | PDZ domain | PDZ superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BLP8
|
373 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance