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Aliases for PPT2 Gene

Aliases for PPT2 Gene

  • Palmitoyl-Protein Thioesterase 2 2 3
  • S-Thioesterase G14 3 4
  • PPT-2 3 4
  • Palmitoyl-Protein Hydrolase 2 3
  • VE-Statin2 3
  • EC 3.1.2.- 4
  • EC 3.1.2 63
  • C6orf8 3
  • G14 3

External Ids for PPT2 Gene

Previous GeneCards Identifiers for PPT2 Gene

  • GC06P032148
  • GC06P031892
  • GC06P032193
  • GC06P032194
  • GC06P032230
  • GC06P032231
  • GC06Pf32221
  • GC06P031876

Summaries for PPT2 Gene

Entrez Gene Summary for PPT2 Gene

  • 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]

GeneCards Summary for PPT2 Gene

PPT2 (Palmitoyl-Protein Thioesterase 2) is a Protein Coding gene. Among its related pathways are Metabolism and Lysosome. GO annotations related to this gene include thiolester hydrolase activity and palmitoyl hydrolase activity. An important paralog of this gene is PPT2-EGFL8.

UniProtKB/Swiss-Prot for PPT2 Gene

  • Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins.

Gene Wiki entry for PPT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPT2 Gene

Genomics for PPT2 Gene

Regulatory Elements for PPT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PPT2 Gene

Chromosome:
6
Start:
32,153,441 bp from pter
End:
32,163,681 bp from pter
Size:
10,241 bases
Orientation:
Plus strand

Genomic View for PPT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PPT2 Gene

  • Protein details for PPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMR5-PPT2_HUMAN
    Recommended name:
    Lysosomal thioesterase PPT2
    Protein Accession:
    Q9UMR5
    Secondary Accessions:
    • A2ABC9
    • A2ABD1
    • A2ARM7
    • A2BFH7
    • A2BFH9
    • A2BFI2
    • A8K9L4
    • B0S868
    • G8JLE1
    • O14799
    • Q0P6K0
    • Q5JP13
    • Q5JP14
    • Q5JQF0
    • Q5SSX4
    • Q5SSX5
    • Q5SSX6
    • Q5STJ4
    • Q5STJ5
    • Q5STJ6
    • Q6FI80
    • Q99945

    Protein attributes for PPT2 Gene

    Size:
    302 amino acids
    Molecular mass:
    34225 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAG38577.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPT2 Gene

    Alternative splice isoforms for PPT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPT2 Gene

Proteomics data for PPT2 Gene at MOPED

Selected DME Specific Peptides for PPT2 Gene

Post-translational modifications for PPT2 Gene

  • Glycosylation at Asn 60, Asn 190, Asn 206, Asn 245, and Asn 289

Domains & Families for PPT2 Gene

Protein Domains for PPT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMR5

UniProtKB/Swiss-Prot:

PPT2_HUMAN :
  • Belongs to the palmitoyl-protein thioesterase family.
Family:
  • Belongs to the palmitoyl-protein thioesterase family.
genes like me logo Genes that share domains with PPT2: view

No data available for Gene Families for PPT2 Gene

Function for PPT2 Gene

Molecular function for PPT2 Gene

GENATLAS Biochemistry:
palmitoyl-protein thioesterase 2,lysosomal,widely expressed,with three spliced transcripts one encoding a homolog of human latent transforming growth factor-beta binding protein (LTBP)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=67 uM for S-palmitoyl-CoA {ECO:0000269 PubMed:12855696}; KM=37 uM for S-palmitoyl-N-acetylcysteamine {ECO:0000269 PubMed:12855696}; KM=117 uM for 4-methylumbelliferyl-6-S-palmitoyl-beta-D- glucopyranoside {ECO:0000269 PubMed:12855696}; Vmax=1.7 umol/min/mg enzyme toward S-palmitoyl-CoA {ECO:0000269 PubMed:12855696}; Vmax=3.3 umol/min/mg enzyme toward S-palmitoyl-N- acetylcysteamine {ECO:0000269 PubMed:12855696}; Vmax=0.43 umol/min/mg enzyme toward 4-methylumbelliferyl-6-S- palmitoyl-beta-D-glucopyranoside {ECO:0000269 PubMed:12855696}; pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:9341199};
UniProtKB/Swiss-Prot Function:
Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins.

Enzyme Numbers (IUBMB) for PPT2 Gene

Gene Ontology (GO) - Molecular Function for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008474 palmitoyl-(protein) hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity NAS 9341199
GO:0098599 palmitoyl hydrolase activity IDA 10417332
genes like me logo Genes that share ontologies with PPT2: view
genes like me logo Genes that share phenotypes with PPT2: view

Animal Models for PPT2 Gene

MGI Knock Outs for PPT2:

Animal Model Products

miRNA for PPT2 Gene

miRTarBase miRNAs that target PPT2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPT2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PPT2 Gene

Localization for PPT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPT2 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPT2 Gene COMPARTMENTS Subcellular localization image for PPT2 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5

Gene Ontology (GO) - Cellular Components for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome NAS 9341199
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PPT2: view

Pathways & Interactions for PPT2 Gene

genes like me logo Genes that share pathways with PPT2: view

Interacting Proteins for PPT2 Gene

Gene Ontology (GO) - Biological Process for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019432 triglyceride biosynthetic process TAS --
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0098734 macromolecule depalmitoylation IEA --
genes like me logo Genes that share ontologies with PPT2: view

No data available for SIGNOR curated interactions for PPT2 Gene

Drugs & Compounds for PPT2 Gene

(3) Drugs for PPT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 20
Coenzyme A Nutra 0

(4) Additional Compounds for PPT2 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hexadecanoyl-CoA
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl Coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme a
  • Palmitoyl-CoA
1763-10-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
palmitate
genes like me logo Genes that share compounds with PPT2: view

Transcripts for PPT2 Gene

Unigene Clusters for PPT2 Gene

Palmitoyl-protein thioesterase 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPT2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPT2 Gene

No ASD Table

Relevant External Links for PPT2 Gene

GeneLoc Exon Structure for
PPT2
ECgene alternative splicing isoforms for
PPT2

Expression for PPT2 Gene

mRNA expression in normal human tissues for PPT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPT2 Gene

This gene is overexpressed in Heart (22.9), Blymphocyte (19.5), and Urine (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPT2 Gene



SOURCE GeneReport for Unigene cluster for PPT2 Gene Hs.332138

mRNA Expression by UniProt/SwissProt for PPT2 Gene

Q9UMR5-PPT2_HUMAN
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle.
genes like me logo Genes that share expression patterns with PPT2: view

Protein tissue co-expression partners for PPT2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PPT2 Gene

Orthologs for PPT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPT2 35
  • 94.26 (n)
  • 96.63 (a)
PPT2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPT2 35
  • 93.36 (n)
  • 97.79 (a)
mouse
(Mus musculus)
Mammalia Ppt2 35
  • 88.96 (n)
  • 93.38 (a)
Ppt2 16
Ppt2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPT2 35
  • 99.13 (n)
  • 99.03 (a)
PPT2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppt2 35
  • 88.74 (n)
  • 94.04 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt2 35
  • 64.58 (n)
  • 66.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68884 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ppt2 35
  • 65.8 (n)
  • 66.91 (a)
ppt2 36
  • 59 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10790 35
fruit fly
(Drosophila melanogaster)
Insecta CG4851 37
  • 41 (a)
Ppt2 35
  • 49.87 (n)
  • 41.35 (a)
Ppt2 36
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009695 35
  • 51.5 (n)
  • 44.36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11236 36
  • 44 (a)
OneToMany
Species with no ortholog for PPT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPT2 Gene

ENSEMBL:
Gene Tree for PPT2 (if available)
TreeFam:
Gene Tree for PPT2 (if available)

Paralogs for PPT2 Gene

Paralogs for PPT2 Gene

(1) SIMAP similar genes for PPT2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PPT2: view

Variants for PPT2 Gene

Sequence variations from dbSNP and Humsavar for PPT2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
VAR_027107 -
VAR_027108 -

Structural Variations from Database of Genomic Variants (DGV) for PPT2 Gene

Variant ID Type Subtype PubMed ID
dgv1929e1 CNV Complex 17122850
nsv830629 CNV Loss 17160897
nsv884701 CNV Gain 21882294
nsv884703 CNV Loss 21882294
dgv6642n71 CNV Loss 21882294
nsv884706 CNV Loss 21882294

Variation tolerance for PPT2 Gene

Residual Variation Intolerance Score: 57.38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.57; 77.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPT2 Gene

HapMap Linkage Disequilibrium report
PPT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPT2 Gene

Disorders for PPT2 Gene

Relevant External Links for PPT2

Genetic Association Database (GAD)
PPT2
Human Genome Epidemiology (HuGE) Navigator
PPT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPT2
genes like me logo Genes that share disorders with PPT2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPT2 Gene

Publications for PPT2 Gene

  1. Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3. (PMID: 10051407) Soyombo A.A. … Hofmann S.L. (Genomics 1999) 2 23 67
  2. Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity. (PMID: 9341199) Soyombo A.A. … Hofmann S.L. (J. Biol. Chem. 1997) 2 23 67
  3. Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. (PMID: 14528005) Gupta P. … Hofmann S.L. (Proc. Natl. Acad. Sci. U.S.A. 2003) 23 67
  4. Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy. (PMID: 11132147) Miyagawa T. … Tokunaga K. (Immunogenetics 2000) 23 67
  5. Characterization of a human MHC class III region gene product with S- thioesterase activity. (PMID: 10417332) Aguado B. … Campbell R.D. (Biochem. J. 1999) 23 67

Products for PPT2 Gene

Sources for PPT2 Gene

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