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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
  • EC 3.1.2 61
  • 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. Diseases associated with PPT2 include Neuronal Ceroid-Lipofuscinoses and Narcolepsy. 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

Enhancers for PPT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F032243 0.8 Ensembl ENCODE 56.3 +91.3 91267 1.4 ZNF493 ARID4B ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 ZNF202 NCOA1 LY6G5B BRD2 ATF6B PPT2 DDX39B LSM2 NFKBIL1 EGFL8 RXRB HLA-DRB1
GH06F031619 1.2 ENCODE 55.6 -532.2 -532214 4.0 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC DDX39B LSM2 LY6G5B ATF6B PPT2 NFKBIL1 EGFL8 GTF2H4 BAG6 DHX16
GH06F032965 1.2 ENCODE 42.3 +817.2 817228 10.4 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC BRD2 VPS52 ATF6B LEMD2 RING1 RXRB DAXX MIR6873 HCG25 PPT2
GH06F033016 1.8 FANTOM5 Ensembl ENCODE 42.1 +865.4 865427 5.0 PKNOX1 ZNF493 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 KLF7 HCG25 BRD2 VPS52 LEMD2 ATF6B RXRB RING1 PPT2 MIR6873 DAXX
GH06F031352 0.8 FANTOM5 ENCODE 41.6 -797.3 -797250 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 LY6G5B DDX39B ATF6B NFKBIL1 LSM2 PPP1R10 DHX16 HLA-C PPT2 GTF2H4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPT2 on UCSC Golden Path with GeneCards custom track

Promoters for PPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025330 559 2401 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 CBX5
ENSR00001879825 -1541 1001 HDGF ATF1 ARNT CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF48 SLC30A9

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

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

Selected DME Specific Peptides for PPT2 Gene

Q9UMR5:
  • YKPVIVVHGLFDSS
  • FISLSSPQ
  • VTVLDLFDGRESLRPLWEQVQGFREAV
  • GVHLICYSQGGL

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

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: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

miRNA for PPT2 Gene

miRTarBase miRNAs that target PPT2

Inhibitory RNA Products

Flow Cytometry 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
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: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

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:0035338 long-chain 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
Water Approved Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Coenzyme A Nutra 0

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

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
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

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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with PPT2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PPT2 34 35
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia PPT2 34 35
  • 94.26 (n)
dog
(Canis familiaris)
Mammalia PPT2 34
  • 93.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ppt2 34 16 35
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Ppt2 34
  • 88.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt2 34
  • 64.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68884 34
zebrafish
(Danio rerio)
Actinopterygii ppt2 34 35
  • 65.8 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10790 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009695 34
  • 51.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppt2 34 35
  • 49.87 (n)
CG4851 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11236 35
  • 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)

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
rs771678882 Uncertain significance 32,162,807(+) TGAAG(A/G)TTTAT intron-variant, upstream-variant-2KB, reference, missense
rs1050862 -- 32,163,397(+) AAGTC(C/T)CCTGA intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1050865 -- 32,163,451(+) GGGTT(C/T)TGAGG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1053924 -- 32,152,938(-) ATAAT(A/G)ATTAT nc-transcript-variant, upstream-variant-2KB
rs10680 -- 32,163,160(+) TCCCC(C/G)ACCTC intron-variant, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links for PPT2 Gene

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

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, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid-lipofuscinoses
  • ceroid lipofuscinosis, neuronal, 1
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards
Search PPT2 in MalaCards View complete list of genes associated with diseases

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 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 3 4 22 64
  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 3 4 22 64
  3. Characterization of a human MHC class III region gene product with S- thioesterase activity. (PMID: 10417332) Aguado B. … Campbell R.D. (Biochem. J. 1999) 3 4 22 64
  4. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock D.B. … London S.J. (Nat. Genet. 2010) 3 46 64
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos L.F. … Criswell L.A. (PLoS Genet. 2009) 3 46 64

Products for PPT2 Gene

Sources for PPT2 Gene

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