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Protein Coding Gene : Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2

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 7.0.0)

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 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]
  • synonyms:
  • MGI:1270154,
  • juvenile development and fertility 2,
  • MGI:93883,
  • runting, jerky gait, sterility,
  • jdf2,
  • D7H15F32S1,
  • Herc2,
  • D15F32S1h,
  • DNA segment, Chr 7, human D15F37S1,
  • MGD-MRK-7792,
  • rjs,
  • DNA segment, Chr 7, human D15F32S1,
  • D7H15F37S1,
  • HECT and RLD domain containing E3 ubiquitin protein ligase 2,
  • MGD-MRK-7791,
  • MGD-MRK-4005,
  • MGD-MRK-24107

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

8 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

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

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

21 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For