| Primary Identifier | MGI:1349482 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 26941 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dopamine receptor binding activity and phosphatase binding activity. Involved in several processes, including bile acid secretion; maintenance of epithelial cell apical/basal polarity; and negative regulation of signal transduction. Acts upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; auditory receptor cell stereocilium organization; and cerebrospinal fluid circulation. Located in several cellular components, including brush border membrane; sperm midpiece; and stereocilium tip. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; knee joint primordium; and sensory organ. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human NHERF1 (NHERF family PDZ scaffold protein 1). PHENOTYPE: For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
