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Aliases for PPT2 Gene

Aliases for PPT2 Gene

  • Palmitoyl-Protein Thioesterase 2 2 3 5
  • S-Thioesterase G14 3 4
  • PPT-2 3 4
  • Palmitoyl-Protein Hydrolase 2 3
  • Lysosomal Thioesterase PPT2 3
  • VE-Statin2 3
  • EC 3.1.2.- 4
  • C6orf8 3
  • 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 Neuronal Ceroid Lipofuscinosis and Narcolepsy. Among its related pathways are Fatty Acyl-CoA Biosynthesis 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 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

Additional gene information for PPT2 Gene

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

Genomics for PPT2 Gene

GeneHancer (GH) Regulatory Elements for PPT2 Gene

Promoters and enhancers for PPT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032150 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 0.0 -24 5.1 FEZF1 DMAP1 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 NBN NR2C1 EGFL8 ENSG00000285085 LOC100507547 PPT2 PPT2-EGFL8 PRRT1 ATF6B MSH5 BRD2 HLA-DRB1
GH06J032164 Promoter 0.5 EPDnew 650.4 +9.7 9724 0.1 EGFL8 PPT2 ENSG00000285085 PPT2-EGFL8
GH06J032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 81.3 +817.2 817228 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 ATF6B VPS52 RXRB DAXX WDR46 HCG25
GH06J032633 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 47.4 +483.6 483563 7.2 HDGF SMAD1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 GC06P032637 GC06P032638 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 PPT2 HLA-DRB6
GH06J031619 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.6 -532.2 -532214 4 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SNORA38 PRRC2A GC06P032031 GC06P032039 GC06P032176 GC06P032224 GC06P032226 GC06P032227 GC06P032228 GC06P032233
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PPT2 Gene

Genomic Locations for PPT2 Gene
chr6:32,153,441-32,163,681
(GRCh38/hg38)
Size:
10,241 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=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

Post-translational modifications for PPT2 Gene

  • Glycosylation at posLast=289289, Asn245, Asn206, posLast=190190, and posLast=6060
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPT2 Gene

Domains & Families for PPT2 Gene

Gene Families for PPT2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

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

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

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
extracellular 5
lysosome 5

Gene Ontology (GO) - Cellular Components for PPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome 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 --
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, Experimental Pharma Full agonist, Agonist 23
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

Unigene Clusters for PPT2 Gene

Palmitoyl-protein thioesterase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PPT2 Gene:

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

  • Kidney(4.1)
  • Skin(4.1)
  • Nervous system(4.1)
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 34 33
  • 99.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPT2 34 33
  • 94.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPT2 33
  • 93.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ppt2 16 34 33
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Ppt2 33
  • 88.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt2 33
  • 64.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68884 33
zebrafish
(Danio rerio)
Actinopterygii ppt2 34 33
  • 65.8 (n)
OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10790 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009695 33
  • 51.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppt2 34 33
  • 49.87 (n)
OneToMany
CG4851 35
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11236 34
  • 44 (a)
OneToMany
Species where no ortholog for PPT2 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for PPT2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs771678882 uncertain-significance, not specified 32,162,807(+) G/A coding_sequence_variant, missense_variant
rs1000407887 -- 32,159,999(+) C/G/T intron_variant
rs1000918959 -- 32,163,153(+) C/A 3_prime_UTR_variant
rs1000940084 -- 32,151,594(+) T/C upstream_transcript_variant
rs1001259119 -- 32,155,260(+) C/T intron_variant

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

(2) MalaCards diseases for PPT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
narcolepsy
  • narcolepsy, without cataplexy
- 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
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 22 58
  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 22 58
  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 22 58
  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 44 58
  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 44 58

Products for PPT2 Gene

Sources for PPT2 Gene

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