PNPLA4 (patatin like phospholipase domain containing 4)

2014-11-01  

Identity

HGNC
PNPLA4
LOCATION
Xp22.31
LOCUSID
8228
ALIAS
DXS1283E,GS2,iPLA2eta

Other Information

Locus ID:

NCBI: 8228
MIM: 300102
HGNC: 24887
Ensembl: ENSG00000006757

Variants:

dbSNP: 8228
ClinVar: 8228
TCGA: ENSG00000006757
COSMIC: PNPLA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006757ENST00000381042P41247
ENSG00000006757ENST00000381042A0A024RBU8
ENSG00000006757ENST00000442940C9IZF6
ENSG00000006757ENST00000444736P41247
ENSG00000006757ENST00000444736A0A024RBU8
ENSG00000006757ENST00000537427P41247

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153649292004Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.261
193906242009Genetic variance in the adiponutrin gene family and childhood obesity.14
193906242009Genetic variance in the adiponutrin gene family and childhood obesity.14
159551022005Identification of a novel keratinocyte retinyl ester hydrolase as a transacylase and lipase.12
167415172006Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47.6
191815552009GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion.5
273174272016The PNPLA-family phospholipases involved in glycerophospholipid homeostasis of HeLa cells.3

Citation

Dessen P

PNPLA4 (patatin like phospholipase domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72030/pnpla4