| Primary Identifier | MGI:2442062 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 268396 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Located in cytoplasm and podosome. Is expressed in several structures, including branchial arch; central nervous system; heart; jaw; and skeleton. Used to study glaucoma and otitis media. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B). PHENOTYPE: Homozygous mutations of this gene result in decreased body size, pronounced craniofacial, skeletal and cardiac defects, and eye anomalies including anterior segment dysgenesis, corneal opacities and ocular hypertension. [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
