PPT2 (palmitoyl-protein thioesterase 2)

2014-11-01 Affiliation

Identity

HGNC

PPT2

LOCATION

6p21.32

LOCUSID

9374

ALIAS

C6orf8,G14,PPT-2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9374
MIM: 603298
HGNC: 9326
Ensembl: ENSG00000221988

Variants:

dbSNP: 9374
ClinVar: 9374
TCGA: ENSG00000221988
COSMIC: PPT2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000221988	ENST00000324816	Q9UMR5
ENSG00000221988	ENST00000324816	A0A1U9X8D2
ENSG00000221988	ENST00000361568	Q9UMR5
ENSG00000221988	ENST00000375137	Q9UMR5
ENSG00000221988	ENST00000375137	A0A1U9X8D2
ENSG00000221988	ENST00000375143	Q9UMR5
ENSG00000221988	ENST00000375143	A0A1U9X8D2
ENSG00000221988	ENST00000395523	Q9UMR5
ENSG00000221988	ENST00000395523	A0A1U9X8D2
ENSG00000221988	ENST00000414204	G8JLL2
ENSG00000221988	ENST00000424499	A2ABN7
ENSG00000221988	ENST00000436118	A2ABN6

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fatty acid elongation	KEGG	ko00062
Fatty acid elongation	KEGG	hsa00062
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105
Synthesis of very long-chain fatty acyl-CoAs	REACTOME	R-HSA-75876

References

Pubmed ID	Year	Title	Citations
20010835	2010	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	251
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
12855696	2003	The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2.	16
24387323	2014	Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population.	6
19143821	2009	Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.	4

Citation

Dessen P

PPT2 (palmitoyl-protein thioesterase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72160/ppt2