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Protein Coding Gene : Tbc1d20 TBC1 domain family, member 20
Primary Identifier  MGI:1914481 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  67231
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable GTPase activator activity and small GTPase binding activity. Acts upstream of or within several processes, including acrosome assembly; lens fiber cell morphogenesis; and seminiferous tubule development. Predicted to be located in Golgi membrane; endoplasmic reticulum; and nuclear membrane. Predicted to be active in endoplasmic reticulum membrane. Used to study Warburg micro syndrome 4. Human ortholog(s) of this gene implicated in Warburg micro syndrome 4. Orthologous to human TBC1D20 (TBC1 domain family member 20).
PHENOTYPE: Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile. [provided by MGI curators]
  • synonyms:
  • MGI:2138929,
  • Tbc1d20,
  • MGI:88207,
  • MGI:1923567,
  • 2810442O16Rik,
  • RIKEN cDNA 2810442O16 gene,
  • 1110028I04Rik,
  • blind-sterile,
  • bs,
  • RIKEN cDNA 1110028I04 gene,
  • TBC1 domain family, member 20,
  • MGD-MRK-1673,
  • AI414693,
  • expressed sequence AI414693
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Features --> Cross References

Genome

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2 Involved In Mutations

Trail: ProteinCodingGene

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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

8 Pathways

Trail: ProteinCodingGene

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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