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PPT2 palmitoyl-protein thioesterase 2 [ Homo sapiens (human) ]

Gene ID: 9374, updated on 13-Mar-2020

Summary

Official Symbol
PPT2provided by HGNC
Official Full Name
palmitoyl-protein thioesterase 2provided by HGNC
Primary source
HGNC:HGNC:9326
See related
Ensembl:ENSG00000221988 MIM:603298
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
G14; PPT-2; C6orf8
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 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]
Expression
Ubiquitous expression in ovary (RPKM 15.5), placenta (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See PPT2 in Genome Data Viewer
Location:
6p21.32
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32153528..32163675)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32121229..32131458)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.1802 Neighboring gene FKBP prolyl isomerase like Neighboring gene uncharacterized LOC100507547 Neighboring gene proline rich transmembrane protein 1 Neighboring gene PPT2-EGFL8 readthrough (NMD candidate) Neighboring gene EGF like domain multiple 8 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1 Neighboring gene microRNA 6721

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PPT2-EGFL8

Readthrough gene: PPT2-EGFL8, Included gene: EGFL8

Homology

Clone Names

  • DKFZp564P1516

Gene Ontology Provided by GOA

Function Evidence Code Pubs
palmitoyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyl hydrolase activity TAS
Traceable Author Statement
more info
 
palmitoyl-(protein) hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
thiolester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiolester hydrolase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
macromolecule depalmitoylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
lysosomal thioesterase PPT2
Names
S-thioesterase G14
VE-statin2
palmitoyl-protein hydrolase 2
NP_001191032.1
NP_005146.4
NP_619731.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042283.1 RefSeqGene

    Range
    5077..15224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204103.2NP_001191032.1  lysosomal thioesterase PPT2 isoform a precursor

    See identical proteins and their annotated locations for NP_001191032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (a).
    Source sequence(s)
    AI472281, DA153675, Y17958
    Consensus CDS
    CCDS4742.1
    UniProtKB/Swiss-Prot
    Q9UMR5
    UniProtKB/TrEMBL
    A0A1U9X8D2
    Related
    ENSP00000364279.2, ENST00000375137.6
    Conserved Domains (1) summary
    PLN02633
    Location:38273
    PLN02633; palmitoyl protein thioesterase family protein
  2. NM_005155.7NP_005146.4  lysosomal thioesterase PPT2 isoform a precursor

    See identical proteins and their annotated locations for NP_005146.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (a). Both variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AF020543, AI472281, DA153675
    Consensus CDS
    CCDS4742.1
    UniProtKB/Swiss-Prot
    Q9UMR5
    UniProtKB/TrEMBL
    A0A1U9X8D2
    Related
    ENSP00000320528.6, ENST00000324816.11
    Conserved Domains (1) summary
    PLN02633
    Location:38273
    PLN02633; palmitoyl protein thioesterase family protein
  3. NM_138717.3NP_619731.2  lysosomal thioesterase PPT2 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (b) is longer at the N-terminus, compared to isoform a.
    Source sequence(s)
    AI472281, AL110128, DA153675
    Consensus CDS
    CCDS4740.1
    UniProtKB/Swiss-Prot
    Q9UMR5
    Related
    ENSP00000354608.2, ENST00000361568.6
    Conserved Domains (1) summary
    cl21494
    Location:44286
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32153528..32163675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3486127..3496276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3591867..3602027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3394893..3399299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3458529..3468659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3495543..3505696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3376722..3386876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3469732..3479881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138934.1: Suppressed sequence

    Description
    NM_138934.1: This RefSeq was permanently suppressed because it represented a read-through transcript that spanned both the PPT2 and EGFL8 genes and is a candidate for nonsense-mediated decay (NMD).
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