Gene Gene information from NCBI Gene database.
Entrez ID 9374
Gene name Palmitoyl-protein thioesterase 2
Gene symbol PPT2
Synonyms (NCBI Gene)
C6orf8G14PPT-2
Chromosome 6
Chromosome location 6p21.32
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 re
miRNA miRNA information provided by mirtarbase database.
254
miRTarBase ID miRNA Experiments Reference
MIRT027637 hsa-miR-98-5p Microarray 19088304
MIRT1259204 hsa-miR-2114 CLIP-seq
MIRT1259205 hsa-miR-3132 CLIP-seq
MIRT1259206 hsa-miR-4286 CLIP-seq
MIRT1259207 hsa-miR-4639-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IBA
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IEA
GO:0005764 Component Lysosome NAS 9341199
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603298 9326 ENSG00000221988
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UMR5
Protein name Lysosomal thioesterase PPT2 (PPT-2) (EC 3.1.2.2) (Palmitoyl-protein thioesterase 2) (S-thioesterase G14)
Protein function Catalyzes the cleavage of thioester bonds from S-palmitoyl-CoA or S-palmitoyl-N-acetylcysteamine (unbranched structures) but does not have activity against palmitoylcysteine or palmitoylated proteins, branched structures or bulky head groups. Co
PDB 1PJA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02089 Palm_thioest 38 283 Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle. {ECO:0000269|PubMed:9341199}.
Sequence
Sequence length 302
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Metabolic pathways
Fatty acid metabolism
Lysosome
  Fatty acyl-CoA biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Hemolytic Hemolytic anemia Pubtator 17211844 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASDB_DG 17632545
★☆☆☆☆
Found in Text Mining only
Emphysema Emphysema Pubtator 24383474 Associate
★☆☆☆☆
Found in Text Mining only
Histiocytosis Histiocytosis BEFREE 14528005
★☆☆☆☆
Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis Neuronal Ceroid Lipofuscinosis BEFREE 10051407, 14528005
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 17211844 Associate
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 20010835 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29520477
★☆☆☆☆
Found in Text Mining only
Membranous glomerulonephritis Membranous Glomerulonephritis GWASCAT_DG 21323541
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Myeloma Multiple myeloma GWASDB_DG 23955597
★☆☆☆☆
Found in Text Mining only