| Primary Identifier | MGI:103234 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 15204 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SUMO binding activity; ubiquitin protein ligase activity; and ubiquitin protein ligase binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within negative regulation of Notch signaling pathway; neuron differentiation; and spermatogenesis. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; peripheral nervous system ganglion; and spleen. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 38 and pigmentation disease. Orthologous to human HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2). PHENOTYPE: Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene. [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
