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 molecular adaptor activity. Predicted to be located in several cellular components, including filopodium; microvillus; and ruffle. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human NHERF1 (NHERF family PDZ scaffold protein 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nherf1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypophosphatemic nephrolithiasis/osteoporosis 2 Alliance Nephrolithiasis/osteoporosis, hypophosphatemic, 2 612287
1 - 1 of 1
Associated With nherf1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Domain IPR015098 EBP50, C-terminal
Family IPR017300 Na(+)/H(+) exchange regulatory cofactor NHERF-1/2
Family IPR051067 Na+/H+ exchange regulatory cofactor
Homologous_superfamily IPR036034 PDZ superfamily
1 - 5 of 5
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
1 - 1 of 1
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations