Tissue expression of PNPLA2 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	PNPLA2
Gene description	Patatin-like phospholipase domain containing 2
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	2
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (adipose tissue)
GTEx:	Expressed in all
FANTOM5:	Group enriched (adipose tissue, breast, colon, small intestine)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (adipose tissue)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (adipose tissue, breast, colon, small intestine)

GENE INFORMATION
Gene name	PNPLA2 (HGNC Symbol)
Synonyms	ATGL, desnutrin, FP17548, iPLA2zeta, TTS-2.2
Description	Patatin-like phospholipase domain containing 2 (HGNC Symbol)
Entrez gene summary	This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
Chromosome	11
Cytoband	p15.5
Chromosome location (bp)	818902 - 825573
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000177666 (version 83.38)
Entrez gene	57104
UniProt	Q96AD5 (UniProt - Evidence at protein level)
neXtProt	NX_Q96AD5
Antibodypedia	PNPLA2 antibodies

PROTEIN BROWSER

PNPLA2-001	PNPLA2-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PNPLA2-001 ENSP00000337701 ENST00000336615	Q96AD5 [Direct mapping] Patatin-like phospholipase domain-containing protein 2 Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004806 [triglyceride lipase activity] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005811 [lipid particle] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006629 [lipid metabolic process] GO:0006644 [phospholipid metabolic process] GO:0008152 [metabolic process] GO:0010891 [negative regulation of sequestering of triglyceride] GO:0010898 [positive regulation of triglyceride catabolic process] GO:0016021 [integral component of membrane] GO:0019433 [triglyceride catabolic process] GO:0019915 [lipid storage] GO:0034389 [lipid particle organization] GO:0036155 [acylglycerol acyl-chain remodeling] GO:0043231 [intracellular membrane-bounded organelle] GO:0044281 [small molecule metabolic process] GO:0046474 [glycerophospholipid biosynthetic process] Show all	504 aa 55.3 kDa	No	0
PNPLA2-201 ENSP00000481602 ENST00000617551	A0A087WY86 [Direct mapping] Patatin-like phospholipase domain-containing protein 2 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		215 aa 23.7 kDa	No	0