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... See more...

Aliases for PPT2 Gene

Aliases for PPT2 Gene

  • Palmitoyl-Protein Thioesterase 2 2 3 5
  • Lysosomal Thioesterase PPT2 3 4
  • 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 51
  • C6orf8 3
  • PPT2 5
  • G14 3

External Ids for PPT2 Gene

Previous GeneCards Identifiers for PPT2 Gene

  • GC06P032148
  • GC06P031892
  • GC06P032193
  • GC06P032194
  • GC06P032230
  • GC06P032231
  • GC06Pf32221
  • GC06P032122
  • 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. Diseases associated with PPT2 include Ceroid Lipofuscinosis, Neuronal, 1 and Neurotrophic Keratoconjunctivitis. Among its related pathways are Lysosome and Metabolism. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPT2 Gene

Genomics for PPT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPT2

Top Transcription factor binding sites by QIAGEN in the PPT2 gene promoter:
  • E47
  • Egr-2
  • N-Myc
  • NF-1
  • Tal-1
  • ZIC2

Genomic Locations for PPT2 Gene

Genomic Locations for PPT2 Gene
chr6:32,153,441-32,163,678
(GRCh38/hg38)
Size:
10,238 bases
Orientation:
Plus strand
chr6:32,121,218-32,134,011
(GRCh37/hg19)
Size:
12,794 bases
Orientation:
Plus strand

Genomic View for PPT2 Gene

Genes around PPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Catalytically inactive due to lack of His-283. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for PPT2 Gene

    Alternative splice isoforms for PPT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPT2 Gene

Selected DME Specific Peptides for PPT2 Gene

Q9UMR5:
  • YKPVIVVHGLFDSS
  • FISLSSPQ
  • VTVLDLFDGRESLRPLWEQVQGFREAV
  • GVHLICYSQGGL

Post-translational modifications for PPT2 Gene

  • Glycosylation at Asn60, Asn190, Asn206, Asn245, and Asn289
  • Modification sites at PhosphoSitePlus

Domains & Families for PPT2 Gene

Gene Families for PPT2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PPT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPT2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52513, highly similar to Lysosomal thioesterase PPT2 (EC 3.1.2.-) (B7Z424_HUMAN)
  • S-thioesterase G14 (PPT2_HUMAN)

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

Function for PPT2 Gene

Molecular function for PPT2 Gene

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.
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};
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)

Enzyme Numbers (IUBMB) for PPT2 Gene

Phenotypes From GWAS Catalog 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:0016787 hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity NAS 9341199
GO:0098599 palmitoyl hydrolase activity TAS --
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

CRISPR Products

miRNA for PPT2 Gene

miRTarBase miRNAs that target PPT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPT2

Clone Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPT2 gene
Compartment Confidence
lysosome 5
extracellular 4
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA,NAS 9341199
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043202 lysosomal lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with PPT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPT2 Gene

Pathways & Interactions for PPT2 Gene

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

Gene Ontology (GO) - Biological Process for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046949 fatty-acyl-CoA biosynthetic 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

(4) Drugs for PPT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Agonist, Full agonist 27
Water Approved Pharma 0
Myristic acid Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(3) Additional Compounds for PPT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme A
  • Palmitoyl-CoA
1763-10-6
genes like me logo Genes that share compounds with PPT2: view

Transcripts for PPT2 Gene

mRNA/cDNA for PPT2 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPT2

Clone 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

Expression for PPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PPT2 Gene



Protein tissue co-expression partners for PPT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPT2

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.

Evidence on tissue expression from TISSUES for PPT2 Gene

  • Nervous system(4.4)
  • Skin(4.4)
  • Kidney(4.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PPT2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia PPT2 30 31
  • 99.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPT2 30 31
  • 94.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPT2 30
  • 93.36 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ppt2 30 17 31
  • 88.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppt2 30
  • 88.74 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppt2 30
  • 64.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68884 30
Zebrafish
(Danio rerio)
Actinopterygii ppt2 30 31
  • 65.8 (n)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10790 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009695 30
  • 51.5 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ppt2 30 31
  • 49.87 (n)
OneToMany
CG4851 32
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11236 31
  • 44 (a)
OneToMany
Species where no ortholog for PPT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPT2: view image

Paralogs for PPT2 Gene

Paralogs for PPT2 Gene

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

  • PPT2_HUMAN
  • A2ABN6_HUMAN
  • A2ABN7_HUMAN
  • B0S872_HUMAN
  • B7Z424_HUMAN
  • G8JLE1_HUMAN
  • G8JLL2_HUMAN
genes like me logo Genes that share paralogs with PPT2: view

Variants for PPT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPT2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs771678882 Uncertain Significance: not specified 32,162,807(+) G/A MISSENSE_VARIANT
rs3096696 - p.Ala34Glu
rs3134604 - p.Cys5Trp

Additional dbSNP identifiers (rs#s) for PPT2 Gene

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

Variant ID Type Subtype PubMed ID
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv602104 CNV loss 21841781
nsv830629 CNV loss 17160897

Variation tolerance for PPT2 Gene

Residual Variation Intolerance Score: 57.4% 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)

Additional Variant Information for PPT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PPT2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PPT2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 1
  • cln1
neurotrophic keratoconjunctivitis
mucinous stomach adenocarcinoma
  • mucinous adenocarcinoma of the stomach
neuronal ceroid lipofuscinosis
  • batten disease
alzheimer disease 9
  • alzheimer disease 9, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PPT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPT2

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

No data available for 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 AA … Hofmann SL (Genomics 1999) 2 3 4 23
  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 AA … Hofmann SL (The Journal of biological chemistry 1997) 2 3 4 23
  3. Characterization of a human MHC class III region gene product with S-thioesterase activity. (PMID: 10417332) Aguado B … Campbell RD (The Biochemical journal 1999) 3 4 23
  4. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock DB … London SJ (Nature genetics 2010) 3 41
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41

Products for PPT2 Gene

Sources for PPT2 Gene