PPT2 - palmitoyl-protein thioesterase 2 Gene

Also Known as G14; PPT-2; C6orf8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9374

About PPT2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,153,528-32,163,675 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 282 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 15.5), placenta (RPKM 11.9) and 25 other tissues.

Summary

This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]

PPT2 Products (3)

mRNA Protein Name
NM_001204103.2 NP_001191032.1 lysosomal thioesterase PPT2 isoform a precursor
NM_005155.7 NP_005146.4 lysosomal thioesterase PPT2 isoform a precursor
NM_138717.3 NP_619731.2 lysosomal thioesterase PPT2 isoform b precursor
Molecular Function GO Annotation Evidence References Source
enables palmitoyl hydrolase activity IDA
IDA: Inferred from direct assay
10417332 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPT2 Protein Structure

Palm_thioest

Palm_thioest: Palmitoyl protein thioesterase (37 - 275)

  • 0
  • 100
  • 200
  • 302 a.a.
Protein Preferred Names Protein Names

lysosomal thioesterase PPT2

  • S-thioesterase G14

Related Diseases

Diseases Alias
Neurotrophic Keratoconjunctivitis
Alzheimer Disease 9
  • AD9

  • Alzheimer'S Disease 9

  • Alzheimer Disease 9, Susceptibility To

  • Alzheimer Disease 9, Late-Onset

  • Alzheimer'S Disease 9, Late Onset

  • {Alzheimer Disease 9, Susceptibility To}

Giardiasis
  • Beaver Feaver

  • Infection By Giardia Lamblia

  • Lambliasis

  • Giardia Lamblia Dysentery

  • Giardial Diarrhoea

  • Lamblia Dysentery

  • Giardia Duodenalis Dysentery

  • Giardia Intestinalis Dysentery

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PPT2 VGNC VGNC:102491
Mus musculus PPT2 MGD MGI:1860075
Bos taurus PPT2 VGNC VGNC:57311
Rattus norvegicus PPT2 RGD RGD:620375
Canis familiaris PPT2 VGNC VGNC:44930
Others PPT2 NCBI