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Aliases for PLIN2 Gene

Aliases for PLIN2 Gene

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

External Ids for PLIN2 Gene

Previous HGNC Symbols for PLIN2 Gene

  • ADFP

Previous GeneCards Identifiers for PLIN2 Gene

  • GC09M019106

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 Lipid-Rich Carcinoma and Epithelial-Myoepithelial Carcinoma. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). An important paralog of this gene is PLIN3.

UniProtKB/Swiss-Prot for PLIN2 Gene

  • May be involved in development and maintenance of adipose tissue.

Gene Wiki entry for PLIN2 Gene

Additional gene information for PLIN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLIN2 Gene

Genomics for PLIN2 Gene

Regulatory Elements for PLIN2 Gene

Enhancers for PLIN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H019123 1.6 FANTOM5 ENCODE dbSUPER 19.3 +21.9 21883 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 HAUS6 PLIN2 ACER2 GC09M019109
GH09H019180 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -34.5 -34525 5 HDGF FOXA2 ARID4B SIN3A ZNF143 FOS ATF7 RUNX3 JUNB ZNF592 DENND4C PLIN2 HAUS6 ENSG00000232978 RPS6P10
GH09H019229 1.7 FANTOM5 ENCODE dbSUPER 12.8 -82.5 -82490 4 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 PLIN2 ENSG00000232978 HAUS6 ENSG00000273226 ENSG00000272842 GC09P019231
GH09H019115 1 ENCODE dbSUPER 18.5 +32.8 32806 1 JUN MAX CEBPG FOSL1 NFE2 ZNF584 MAFK L3MBTL2 CEBPB USF2 PLIN2 SAXO1 PSMC3P1 GC09M019109
GH09H019173 1.5 Ensembl ENCODE dbSUPER 12.2 -25.0 -24978 1 HDGF FOXA2 ARNT ARID4B YBX1 GLI4 ZNF2 ZBTB7B ZNF207 ZNF143 DENND4C HAUS6 SCARNA8 ENSG00000272842 PLIN2 RPS6 ENSG00000273226 SAXO1 PSMC3P1 RPS6P10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLIN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLIN2 Gene

Chromosome:
9
Start:
19,108,375 bp from pter
End:
19,149,290 bp from pter
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

Antibody Products

  • 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:
ProtoNet:

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.
genes like me logo Genes that share phenotypes with PLIN2: view

Animal Models for PLIN2 Gene

MGI Knock Outs for PLIN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLIN2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLIN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , 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.

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 5
extracellular 5
endoplasmic reticulum 5
cytosol 4
nucleus 3
cytoskeleton 2
peroxisome 2
mitochondrion 1
lysosome 1
golgi apparatus 1

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 particle 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

Gene Ontology (GO) - Biological Process for PLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with PLIN2: view

No data available for SIGNOR curated interactions for PLIN2 Gene

Drugs & Compounds for PLIN2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
arachidonic acid Experimental Nutra Activator 32
Myristic acid Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
Pentadecanoic acid
  • N-Pentadecanoate
  • N-Pentadecanoic acid
  • N-Pentadecylate
  • N-Pentadecylic acid
  • Pentadecanoate
1002-84-2
genes like me logo Genes that share compounds with PLIN2: view

Transcripts for PLIN2 Gene

Unigene Clusters for PLIN2 Gene

Perilipin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLIN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
PLIN2

Expression for PLIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PLIN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLIN2 Gene:

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(3.7)
  • Blood(3.4)
  • Kidney(3.3)
  • Lung(3.3)
  • Muscle(2.9)
  • Skin(2.8)
  • Heart(2.4)
  • Adrenal gland(2.3)
  • Bone marrow(2.1)
  • Eye(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PLIN2: view

Primer Products

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 33 34
  • 98.93 (n)
dog
(Canis familiaris)
Mammalia PLIN2 33 34
  • 90.16 (n)
cow
(Bos Taurus)
Mammalia PLIN2 33 34
  • 88.78 (n)
mouse
(Mus musculus)
Mammalia Plin2 33 16 34
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Plin2 33
  • 83.45 (n)
oppossum
(Monodelphis domestica)
Mammalia PLIN2 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves PLIN2 33 34
  • 74.45 (n)
lizard
(Anolis carolinensis)
Reptilia PLIN2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plin2 33
  • 67.57 (n)
MGC76047 33
African clawed frog
(Xenopus laevis)
Amphibia fatvg 33
zebrafish
(Danio rerio)
Actinopterygii plin2 33 34
  • 62.32 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5121 33
worm
(Caenorhabditis elegans)
Secernentea lea-1 34
  • 6 (a)
OneToMany
Species where no ortholog for PLIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for PLIN2 Gene

Paralogs for PLIN2 Gene

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

Pseudogenes.org Pseudogenes for PLIN2 Gene

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

Variants for PLIN2 Gene

Sequence variations from dbSNP and Humsavar for PLIN2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000068963 -- 19,117,180(+) TTCTG(A/G)GACAG intron-variant
rs1000193668 -- 19,128,193(+) GCGCT(A/G)CACAA upstream-variant-2KB
rs1000303662 -- 19,122,926(+) TAGGT(C/T)GGTGT intron-variant
rs1000398759 -- 19,117,315(+) ACCAC(C/G)ACACC intron-variant
rs1000475550 -- 19,128,621(+) ATGAC(A/C)GCTGC upstream-variant-2KB

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)

Relevant External Links for PLIN2 Gene

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

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

Disorders for PLIN2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for PLIN2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipid-rich carcinoma
epithelial-myoepithelial carcinoma
  • adenomyo-epithelioma
chanarin-dorfman syndrome
  • neutral lipid storage disease
acrodermatitis enteropathica
  • acrodermatitis enteropathica zinc deficiency type
sebaceous adenocarcinoma
  • adenocarcinoma of the sebaceous gland
- elite association - COSMIC cancer census association via MalaCards
Search PLIN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLIN2

Human Genome Epidemiology (HuGE) Navigator
PLIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLIN2
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 60
  2. 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 60
  3. 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 60
  4. 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 60
  5. 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 60

Products for PLIN2 Gene

Sources for PLIN2 Gene

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