PNPLA2

GENERAL INFORMATION

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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
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (adipose tissue)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (adipose tissue)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

57104

UniProt

Q96AD5 (UniProt - Evidence at protein level)

neXtProt

NX_Q96AD5

Antibodypedia

PNPLA2 antibodies


PROTEIN BROWSER

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ENST00000336615
 
ENST00000617551
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPLA2-001 ENSP00000337701
ENST00000336615
Q96AD5
Show all »
Show » Show » 504 55.3 No 0
PNPLA2-201 ENSP00000481602
ENST00000617551
Show » 215 23.7 No 0