Gene Gene information from NCBI Gene database.
Entrez ID 123
Gene name Perilipin 2
Gene symbol PLIN2
Synonyms (NCBI Gene)
ADFPADRP
Chromosome 9
Chromosome location 9p22.1
Summary The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of
miRNA miRNA information provided by mirtarbase database.
43
miRTarBase ID miRNA Experiments Reference
MIRT1242782 hsa-miR-1305 CLIP-seq
MIRT1242783 hsa-miR-3135 CLIP-seq
MIRT1242784 hsa-miR-3942-3p CLIP-seq
MIRT1242785 hsa-miR-421 CLIP-seq
MIRT1242786 hsa-miR-4272 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
PPARA Repression 17150915
PPARG Activation 11420178;16403437
PPARG Unknown 17322100;19571381
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005576 Component Extracellular region TAS 9003395
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum TAS 9003395
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103195 248 ENSG00000147872
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99541
Protein name Perilipin-2 (Adipophilin) (Adipose differentiation-related protein) (ADRP)
Protein function Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03036 Perilipin 5 409 Perilipin family Family
Tissue specificity TISSUE SPECIFICITY: Milk lipid globules. {ECO:0000269|PubMed:9003395}.
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PPAR signaling pathway   PPARA activates gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
FATTY LIVER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS CTD
★★☆☆☆
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
Acrodermatitis enteropathica Acrodermatitis Enteropathica BEFREE 9687549
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30782775
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27467545
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34312912 Stimulate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30879968
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28713961, 29422264, 30124738, 31251843
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 10580108, 18827892, 31251843 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28713961, 29422264, 30124738, 31251843
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 30402637 Inhibit
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 31661297
★☆☆☆☆
Found in Text Mining only