| Primary Identifier | MGI:103223 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 22346 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA-binding transcription factor binding activity; transcription elongation factor activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in cilium; cytoplasm; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; gut; and nervous system. Used to study familial erythrocytosis 2; sudden infant death syndrome; and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to several human genes including VHL (von Hippel-Lindau tumor suppressor). PHENOTYPE: Inactivation of this locus leads to defects similar to those seen in patients with von Hippel-Lindau disease. Abnormalities observed include hepatic and vasculature defects. Homozygozity for null mutations results in embryonic lethality. [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
