PNPLA2 (patatin like phospholipase domain containing 2)

2011-08-01 Affiliation

Identity

HGNC

PNPLA2

LOCATION

11p15.5

LOCUSID

57104

ALIAS

1110001C14Rik,ATGL,FP17548,PEDF-R,TTS-2.2,TTS2,iPLA2zeta

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: 57104
MIM: 609059
HGNC: 30802
Ensembl: ENSG00000177666

Variants:

dbSNP: 57104
ClinVar: 57104
TCGA: ENSG00000177666
COSMIC: PNPLA2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000177666	ENST00000336615	Q96AD5

Expression (GTEx)

100

200

300

400

500

600

700

800

900

1000

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
Glycerolipid metabolism	KEGG	ko00561
Glycerolipid metabolism	KEGG	hsa00561
Metabolic pathways	KEGG	hsa01100
Acylglycerol degradation	KEGG	hsa_M00098
Acylglycerol degradation	KEGG	M00098
Regulation of lipolysis in adipocytes	KEGG	hsa04923
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
Glycerophospholipid biosynthesis	REACTOME	R-HSA-1483206
Acyl chain remodeling of DAG and TAG	REACTOME	R-HSA-1482883

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15550674	2004	Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase.	529
16679289	2006	Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.	301
15364929	2004	Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.	261
18952573	2009	Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores.	178
21680814	2011	Adipose triglyceride lipase contributes to cancer-associated cachexia.	151
17187067	2007	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.	134
19401457	2009	Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.	108
17032652	2006	Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor.	100
21393244	2011	Unique regulation of adipose triglyceride lipase (ATGL) by perilipin 5, a lipid droplet-associated protein.	95
16239926	2006	ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells.	85

Citation

Dessen P

PNPLA2 (patatin like phospholipase domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52359/pnpla2-(patatin-like-phospholipase-domain-containing-2)