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Protein Coding Gene : Vac14 Vac14 homolog (S. cerevisiae)

Primary Identifier  MGI:2157980 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  234729
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable identical protein binding activity and kinase activator activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization. Is active in presynaptic endosome. Is expressed in cerebral cortex ventricular layer; cortical plate; embryo; and extraembryonic component. Human ortholog(s) of this gene implicated in striatonigral degeneration. Orthologous to human VAC14 (VAC14 component of PIKFYVE complex).
PHENOTYPE: Mice homozygous for a null mutation display early postnatal lethality with lesions in multiple regions of the brain. Mice homozygous for a hypomorphic allele exhibit postnatal lethality, spongiform degeneration, enlarged brain ventricles and coat color dilution. [provided by MGI curators]
  • synonyms:
  • AA959718,
  • DNA segment, Chr 8, Wayne State University 151, expressed,
  • ingls,
  • D8Wsu151e,
  • MGI:2142449,
  • infantile gliosis,
  • BC032215,
  • MGC:38230,
  • MGI:2159426,
  • MGI:107290,
  • MGD-MRK-35755,
  • Tax1bp2,
  • MGI:2384587,
  • Tax1 (human T-cell leukemia virus type I) binding protein 2,
  • Vac14 homolog (S. cerevisiae),
  • cDNA sequence BC032215,
  • Trx,
  • expressed sequence AA959718,
  • Vac14

Features --> Cross References

Genome

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0 CDSs

0 Exons

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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

7 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