PNPLA5 (patatin like phospholipase domain containing 5)

2014-11-01 Affiliation

Identity

HGNC

PNPLA5

LOCATION

22q13.31

LOCUSID

150379

ALIAS

GS2L,dJ388M5,dJ388M5.4

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: 150379
MIM: 611589
HGNC: 24888
Ensembl: ENSG00000100341

Variants:

dbSNP: 150379
ClinVar: 150379
TCGA: ENSG00000100341
COSMIC: PNPLA5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100341	ENST00000216177	Q7Z6Z6
ENSG00000100341	ENST00000381198	Q7Z6Z6
ENSG00000100341	ENST00000438734	B1AHL9
ENSG00000100341	ENST00000593866	Q7Z6Z6
ENSG00000100341	ENST00000597664	Q7Z6Z6

Expression (GTEx)

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
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
24613307	2014	Neutral lipid stores and lipase PNPLA5 contribute to autophagosome biogenesis.	71
19390624	2009	Genetic variance in the adiponutrin gene family and childhood obesity.	14
19390624	2009	Genetic variance in the adiponutrin gene family and childhood obesity.	14

Citation

Dessen P

PNPLA5 (patatin like phospholipase domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72031/pnpla5