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Protein Coding Gene : Ppt2 palmitoyl-protein thioesterase 2

Primary Identifier  MGI:1860075 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  54397
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable palmitoyl hydrolase activity and thiolester hydrolase activity. Predicted to be active in lysosome. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and respiratory system. Used to study neuronal ceroid lipofuscinosis. Orthologous to human PPT2 (palmitoyl-protein thioesterase 2).
PHENOTYPE: Homozygous null mutants show autofluorescent storage material in brain, abnormal clasping behavior, spasticity, ataxia and increased adult mortality. In addition, lipofuscin pigments in pancreas, bone marrow histiocytosis and splenomegaly are observed. [provided by MGI curators]
  • synonyms:
  • palmitoyl-protein thioesterase 2,
  • MGI:1918916,
  • AA672937,
  • Ppt2,
  • 0610007M19Rik,
  • expressed sequence AA672937,
  • MGI:2146778,
  • RIKEN cDNA 0610007M19 gene

Features --> Cross References

Genome

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0 CDSs

0 Exons

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0 Involved In Mutations

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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

4 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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