Gene Gene information from NCBI Gene database.
Entrez ID 440503
Gene name Perilipin 5
Gene symbol PLIN5
Synonyms (NCBI Gene)
LSDA5LSDP5MLDPOXPAT
Chromosome 19
Chromosome location 19p13.3
Summary Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT541859 hsa-miR-4418 PAR-CLIP 21572407
MIRT541857 hsa-miR-509-3-5p PAR-CLIP 21572407
MIRT541858 hsa-miR-509-5p PAR-CLIP 21572407
MIRT541856 hsa-miR-6890-3p PAR-CLIP 21572407
MIRT541855 hsa-miR-939-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613248 33196 ENSG00000214456
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00G26
Protein name Perilipin-5 (Lipid storage droplet protein 5)
Protein function Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet h
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03036 Perilipin 15 382 Perilipin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle, liver, heart and kidney. {ECO:0000269|PubMed:17234449}.
Sequence
Sequence length 463
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  PPAR signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 29215758, 31297870
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29215758, 31297870
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31173228
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37108378 Stimulate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 31291602
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 27376234
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 33482299 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29110300
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 29317465
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty liver Pubtator 36611868 Associate
★☆☆☆☆
Found in Text Mining only