Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9374
Gene name Gene Name - the full gene name approved by the HGNC.
Palmitoyl-protein thioesterase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPT2
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf8, G14, PPT-2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez 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 re
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603298 9326 ENSG00000221988
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes mellitus or coronary artery disease (pleiotropy) N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Stimulate 17211844
Anemia Hemolytic Stimulate 17211844
Emphysema Associate 24383474
Kidney Diseases Associate 17211844
Lung Diseases Associate 20010835
Ovarian Neoplasms Inhibit 39394143
Pulmonary Disease Chronic Obstructive Associate 21659657