PLIN2 perilipin 2 [Homo sapiens] - Gene

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Summary

Official Symbol: PLIN2provided by HGNC
Official Full Name: perilipin 2provided by HGNC
Primary source: HGNC:248
Locus tag: RP11-151J10.1
See related: Ensembl:ENSG00000147872; HPRD:00057; MIM:103195; Vega:OTTHUMG00000019624
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADFP; ADRP; MGC10598
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 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]

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Genomic context

Location :: 9p22.1

Sequence :: Chromosome: 9; NC_000009.11 (19115759..19127604, complement)

See PLIN2 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

High PLIN2 protein level is associated with colorectal cancer.
Title: Identification of adipophilin as a potential plasma biomarker for colorectal cancer using label-free quantitative mass spectrometry and protein microarray.
The frequency of adipophilin-positive cases was significantly higher in apocrine breast carcinomas compared with nonapocrine carcinomas.
Title: Intracytoplasmic lipid accumulation in apocrine carcinoma of the breast evaluated with adipophilin immunoreactivity: a possible link between apocrine carcinoma and lipid-rich carcinoma.
Adipophilin-positive macrophage infiltration in the fibrous cap might be correlated with instability in neurological status
Title: Correlation of thin fibrous cap possessing adipophilin-positive macrophages and intraplaque hemorrhage with high clinical risk for carotid endarterectomy.
Perilipin may play a role in the long-term storage of fat, which may be only partially reflected by cell culture models.
Title: [Lipid droplet-associated proteins in steatosis. Effects of induction and siRNA-mediated downregulation of PAT proteins in cell culture models of hepatocyte steatosis].
Adipophilin can be valuable in an immunohistochemical panel when evaluating cutaneous lesions with clear cell histology
Title: Adipophilin expression in sebaceous tumors and other cutaneous lesions with clear cell histology: an immunohistochemical study of 117 cases.
Adipophilin augment inflammation in macrophages, which might be one role of adipophilin in atherosclerosis.
Title: Adipophilin affects the expression of TNF-alpha, MCP-1, and IL-6 in THP-1 macrophages.
ADRP upregulation mediated by retinol and palmitate promotes downregulation of hepatic stellate cells activation and is functionally linked to the expression of fibrogenic genes.
Title: Downregulation of hepatic stellate cell activation by retinol and palmitate mediated by adipose differentiation-related protein (ADRP).
Expression patterns of perilipin and adipophilin in nonalcoholic fatty liver disease livers vary with the size of lipid droplets
Title: Expression of perilipin and adipophilin in nonalcoholic fatty liver disease; relevance to oxidative injury and hepatocyte ballooning.
Findings revealed an upregulation of ADRP during macrophages differentiation into foam cells.
Title: [Expression profile of ADRP in macrophages and foam cells].
LXR, upon stimulation with GW3965, directly regulates human ADFP transcription by binding to LXR response elements located in the 3'-untranslated and the 5'-flanking regions
Title: The human ADFP gene is a direct liver-X-receptor (LXR) target gene and differentially regulated by synthetic LXR ligands.

Submit: New GeneRIF Correction See all (36)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99541	Q8WTS1	ABHD5	HPRD	PubMed
Q99541	P84077	ARF1	HPRD	PubMed
BioGRID:106635	BioGRID:111588	MAPK10	BioGRID	PubMed	Two-hybrid
BioGRID:106635	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Process	Evidence Code	Pubs
cellular lipid metabolic process	TAS Traceable Author Statement more info
lipid storage	IEA Inferred from Electronic Annotation more info
long-chain fatty acid transport	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info	PubMed
lipid particle	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: perilipin-2

Names: perilipin-2; adipophilin; adipose differentiation-related protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001122.3 → NP_001113.2 perilipin-2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

BC005127, BI494696, CN277218

Consensus CDS

CCDS6490.1

UniProtKB/TrEMBL

Q6FHZ7

UniProtKB/Swiss-Prot

Q99541

Related

ENSP00000276914, OTTHUMP00000021107, ENST00000276914, OTTHUMT00000051835

Conserved Domains (1) summary

pfam03036
Location:2 – 396
Blast Score: 1168

Perilipin; Perilipin family

RNA

NR_038064.1 RNA Sequence

Description

Transcript Variant: This variant (2) is alternatively spliced in the 5' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal) as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC005127, BI494696, CN277218

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

19115759..19127604, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

19077611..19089275, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL591206.9	CAI12265.1
		CAI12266.1
		CAI12267.1
		CAI12268.1
genomic	CH471071.2	EAW58648.1
		EAW58649.1
		EAW58650.1
		EAW58651.1
mRNA	AF443203.1	AAL35614.1
mRNA	AK296125.1	BAG58871.1
mRNA	AK297920.1	BAG60238.1
mRNA	AK312983.1	BAG35820.1
mRNA	BC005127.2	AAH05127.1
mRNA	BE311586.1	None
mRNA	BI494696.1	None
mRNA	CN277218.1	None
mRNA	CR536541.1	CAG38778.1
mRNA	X97324.1	CAA65989.1
other-genetic	DQ892977.2	ABM83903.1
other-genetic	DQ896225.2	ABM87224.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q5SYF3	GenPept	UniProtKB/TrEMBL:Q5SYF3
Q5SYF5	GenPept	UniProtKB/TrEMBL:Q5SYF5
Q6FHZ7	GenPept	UniProtKB/TrEMBL:Q6FHZ7
Q99541.2	GenPept	UniProtKB/Swiss-Prot:Q99541