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 adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured ... See more...

Aliases for PLIN2 Gene

Aliases for PLIN2 Gene

  • Perilipin 2 2 3 5
  • Adipose Differentiation-Related Protein 2 3 4
  • Adipophilin 2 3 4
  • ADRP 2 3 4
  • Perilipin-2 3 4
  • ADFP 3 4
  • PLIN2 5

External Ids for PLIN2 Gene

Previous HGNC Symbols for PLIN2 Gene

  • ADFP

Previous GeneCards Identifiers for PLIN2 Gene

  • GC09M019106
  • GC09M019077
  • GC09M019109
  • GC09M019112
  • GC09M019115
  • GC09M019121

Summaries for PLIN2 Gene

Entrez Gene Summary for PLIN2 Gene

  • 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 adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for PLIN2 Gene

PLIN2 (Perilipin 2) is a Protein Coding gene. Diseases associated with PLIN2 include Sebaceous Adenocarcinoma and Lipid-Rich Carcinoma. Among its related pathways are PPAR signaling pathway and Metabolism. An important paralog of this gene is PLIN3.

UniProtKB/Swiss-Prot Summary for PLIN2 Gene

Gene Wiki entry for PLIN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLIN2 Gene

Genomics for PLIN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLIN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLIN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLIN2

Genomic Locations for PLIN2 Gene

Latest Assembly
chr9:19,108,375-19,149,290
(GRCh38/hg38)
Size:
40,916 bases
Orientation:
Minus strand

Previous Assembly
chr9:19,115,759-19,127,490
(GRCh37/hg19 by Entrez Gene)
Size:
11,732 bases
Orientation:
Minus strand

chr9:19,108,373-19,149,288
(GRCh37/hg19 by Ensembl)
Size:
40,916 bases
Orientation:
Minus strand

Genomic View for PLIN2 Gene

Genes around PLIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLIN2 Gene

Proteins for PLIN2 Gene

  • Protein details for PLIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99541-PLIN2_HUMAN
    Recommended name:
    Perilipin-2
    Protein Accession:
    Q99541
    Secondary Accessions:
    • Q9BSC3

    Protein attributes for PLIN2 Gene

    Size:
    437 amino acids
    Molecular mass:
    48075 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLIN2 Gene

Post-translational modifications for PLIN2 Gene

Other Protein References for PLIN2 Gene

Antibodies for research

  • Abcam antibodies for PLIN2
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLIN2

No data available for DME Specific Peptides for PLIN2 Gene

Domains & Families for PLIN2 Gene

Gene Families for PLIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PLIN2 Gene

InterPro:
Blocks:
  • Perilipin

Suggested Antigen Peptide Sequences for PLIN2 Gene

GenScript: Design optimal peptide antigens:
  • Adipose differentiation-related protein (PLIN2_HUMAN)
  • cDNA, FLJ93444, highly similar to Homo sapiens adipose differentiation-related protein (ADFP), mRNA (Q6FHZ7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99541

UniProtKB/Swiss-Prot:

PLIN2_HUMAN :
  • Belongs to the perilipin family.
Family:
  • Belongs to the perilipin family.
genes like me logo Genes that share domains with PLIN2: view

Function for PLIN2 Gene

Molecular function for PLIN2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in development and maintenance of adipose tissue.

Phenotypes From GWAS Catalog for PLIN2 Gene

Gene Ontology (GO) - Molecular Function for PLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with PLIN2: view
genes like me logo Genes that share phenotypes with PLIN2: view

Animal Models for PLIN2 Gene

MGI Knock Outs for PLIN2:

Animal Models for research

  • Taconic Biosciences Mouse Models for PLIN2

miRNA for PLIN2 Gene

miRTarBase miRNAs that target PLIN2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLIN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLIN2 Gene

Localization for PLIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLIN2 Gene

Membrane. Peripheral membrane protein. Lipid droplet.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLIN2 gene
Compartment Confidence
plasma membrane 4
extracellular 4
endoplasmic reticulum 4
cytosol 4
nucleus 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9003395
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS 9003395
GO:0005811 lipid droplet TAS,IDA 14741744
genes like me logo Genes that share ontologies with PLIN2: view

Pathways & Interactions for PLIN2 Gene

genes like me logo Genes that share pathways with PLIN2: view

SIGNOR curated interactions for PLIN2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010890 positive regulation of sequestering of triglyceride IBA 21873635
GO:0014070 response to organic cyclic compound IEA --
GO:0015909 long-chain fatty acid transport IEA --
GO:0019216 regulation of lipid metabolic process TAS --
GO:0019915 lipid storage IEA,IBA 21873635
genes like me logo Genes that share ontologies with PLIN2: view

Drugs & Compounds for PLIN2 Gene

(14) Drugs for PLIN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma 27
Stearic acid Approved, Experimental Pharma 0
arachidonic acid Experimental Pharma 41
Myristic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0

(14) Additional Compounds for PLIN2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
Pentadecanoic acid
  • 15:00
  • C15
  • C15:0
  • N-Pentadecanoic acid
  • Pentadecylic acid
1002-84-2
genes like me logo Genes that share compounds with PLIN2: view

Transcripts for PLIN2 Gene

mRNA/cDNA for PLIN2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLIN2

Alternative Splicing Database (ASD) splice patterns (SP) for PLIN2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - -
SP12: - - -
SP13: - -

Relevant External Links for PLIN2 Gene

GeneLoc Exon Structure for
PLIN2

Expression for PLIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLIN2 Gene

This gene is overexpressed in Whole Blood (x7.7), Adipose - Subcutaneous (x6.0), Muscle - Skeletal (x4.7), and Liver (x4.3).

Protein differential expression in normal tissues from HIPED for PLIN2 Gene

This gene is overexpressed in Milk (62.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLIN2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLIN2

SOURCE GeneReport for Unigene cluster for PLIN2 Gene:

Hs.3416

mRNA Expression by UniProt/SwissProt for PLIN2 Gene:

Q99541-PLIN2_HUMAN
Tissue specificity: Milk lipid globules.

Evidence on tissue expression from TISSUES for PLIN2 Gene

  • Liver(4.9)
  • Nervous system(4.1)
  • Blood(3.6)
  • Lung(3.6)
  • Kidney(3.6)
  • Muscle(3.2)
  • Skin(3.1)
  • Heart(3)
  • Adrenal gland(2.9)
  • Intestine(2.7)
  • Bone marrow(2.6)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Gall bladder(2.1)
  • Pancreas(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PLIN2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLIN2 Gene

Orthologs for PLIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLIN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLIN2 29 30
  • 98.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLIN2 29 30
  • 90.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLIN2 29 30
  • 88.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plin2 29 16 30
  • 84.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plin2 29
  • 83.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLIN2 30
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 66 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
-- 30
  • 54 (a)
OneToMany
Chicken
(Gallus gallus)
Aves PLIN2 29 30
  • 74.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLIN2 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plin2 29
  • 67.57 (n)
MGC76047 29
African clawed frog
(Xenopus laevis)
Amphibia fatvg 29
Zebrafish
(Danio rerio)
Actinopterygii plin2 29 30
  • 62.32 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5121 29
Worm
(Caenorhabditis elegans)
Secernentea lea-1 30
  • 6 (a)
OneToMany
Species where no ortholog for PLIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLIN2 Gene

ENSEMBL:
Gene Tree for PLIN2 (if available)
TreeFam:
Gene Tree for PLIN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLIN2: view image
Alliance of Genome Resources:
Additional Orthologs for PLIN2

Paralogs for PLIN2 Gene

Paralogs for PLIN2 Gene

(4) SIMAP similar genes for PLIN2 Gene using alignment to 5 proteins:

  • PLIN2_HUMAN
  • E9PG83_HUMAN
  • Q5SYF3_HUMAN
  • Q5SYF4_HUMAN
  • Q5SYF5_HUMAN

Pseudogenes.org Pseudogenes for PLIN2 Gene

genes like me logo Genes that share paralogs with PLIN2: view

Variants for PLIN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLIN2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs72561715 Benign: not provided 19,116,591(-) G/A
NM_001122.4(PLIN2):c.971C>T (p.Thr324Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs78408401 Benign: not provided 19,120,982(-) C/G
NM_001122.4(PLIN2):c.493G>C (p.Gly165Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs35568725 -- p.Ser251Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLIN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLIN2 Gene

Variant ID Type Subtype PubMed ID
dgv3964n106 CNV deletion 24896259
esv1298160 CNV deletion 17803354
esv2657658 CNV deletion 23128226
esv2738257 CNV deletion 23290073
esv2738258 CNV deletion 23290073
esv2759676 CNV loss 17122850
esv3619890 CNV loss 21293372
nsv1033552 CNV loss 25217958
nsv1076141 CNV deletion 25765185
nsv1147601 CNV deletion 26484159
nsv1161845 CNV duplication 26073780
nsv8423 CNV gain 18304495

Variation tolerance for PLIN2 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 57.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLIN2 Gene

Human Gene Mutation Database (HGMD)
PLIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLIN2
Leiden Open Variation Database (LOVD)
PLIN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLIN2 Gene

Disorders for PLIN2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for PLIN2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
sebaceous adenocarcinoma
  • adenocarcinoma of the sebaceous gland
lipid-rich carcinoma
meibomian cyst
  • chalazion
chanarin-dorfman syndrome
  • cds
eyelid benign neoplasm
  • tumor of the eyelid
- elite association - COSMIC cancer census association via MalaCards
Search PLIN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLIN2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLIN2 Gene

Publications for PLIN2 Gene

  1. Adipocyte differentiation-related protein is secreted into milk as a constituent of milk lipid globule membrane. (PMID: 9003395) Heid HW … Keenan TW (The Biochemical journal 1996) 2 3 4 22
  2. Adipophilin expression in sebaceous tumors and other cutaneous lesions with clear cell histology: an immunohistochemical study of 117 cases. (PMID: 20118912) Ostler DA … Ivan D (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2010) 3 22
  3. Downregulation of hepatic stellate cell activation by retinol and palmitate mediated by adipose differentiation-related protein (ADRP). (PMID: 20143336) Lee TF … Friedman SL (Journal of cellular physiology 2010) 3 22
  4. Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins. (PMID: 19638644) Kimmel AR … Londos C (Journal of lipid research 2010) 2 3
  5. Adipophilin affects the expression of TNF-alpha, MCP-1, and IL-6 in THP-1 macrophages. (PMID: 19851831) Chen FL … Hu RM (Molecular and cellular biochemistry 2010) 3 22

Products for PLIN2 Gene

  • Addgene plasmids for PLIN2

Sources for PLIN2 Gene