PLIN2 perilipin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLIN2provided by HGNC
Official Full Name: perilipin 2provided by HGNC
Primary source: HGNC:HGNC:248
See related: Ensembl:ENSG00000147872 MIM:103195; AllianceGenome:HGNC:248
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
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]
Expression: Broad expression in liver (RPKM 234.7), placenta (RPKM 77.4) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (19108388..19127492, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (19128612..19140276, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (19115759..19127490, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of PLIN2 in human dermal fibroblasts impairs mitochondrial function in an age-dependent fashion and induces cell senescence via GDF15.
Title: Downregulation of PLIN2 in human dermal fibroblasts impairs mitochondrial function in an age-dependent fashion and induces cell senescence via GDF15.
TRIB3 promotes the progression of renal cell carcinoma by upregulating the lipid droplet-associated protein PLIN2.
Title: TRIB3 promotes the progression of renal cell carcinoma by upregulating the lipid droplet-associated protein PLIN2.
Lysine tRNA fragments and miR-194-5p co-regulate hepatic steatosis via beta-Klotho and perilipin 2.
Title: Lysine tRNA fragments and miR-194-5p co-regulate hepatic steatosis via β-Klotho and perilipin 2.
The combination of the low immunohistochemical expression of peroxiredoxin 4 and perilipin 2 predicts longer survival in pancreatic ductal adenocarcinoma with peroxiredoxin 4 possibly playing a main role.
Title: The combination of the low immunohistochemical expression of peroxiredoxin 4 and perilipin 2 predicts longer survival in pancreatic ductal adenocarcinoma with peroxiredoxin 4 possibly playing a main role.
Perilipin 2-positive mononuclear phagocytes accumulate in the diabetic retina and promote PPARgamma-dependent vasodegeneration.
Title: Perilipin 2-positive mononuclear phagocytes accumulate in the diabetic retina and promote PPARγ-dependent vasodegeneration.
Novel prognostication biomarker adipophilin reveals a metabolic shift in uveal melanoma and new therapeutic opportunities.
Title: Novel prognostication biomarker adipophilin reveals a metabolic shift in uveal melanoma and new therapeutic opportunities.
Trip13 Depletion in Liver Cancer Induces a Lipogenic Response Contributing to Plin2-Dependent Mitotic Cell Death.
Title: Trip13 Depletion in Liver Cancer Induces a Lipogenic Response Contributing to Plin2-Dependent Mitotic Cell Death.
Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.
Title: Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.
Perilipin 2 downregulation in beta cells impairs insulin secretion under nutritional stress and damages mitochondria.
Title: Perilipin 2 downregulation in β cells impairs insulin secretion under nutritional stress and damages mitochondria.
Dietary excess regulates absorption and surface of gut epithelium through intestinal PPARalpha.
Title: Dietary excess regulates absorption and surface of gut epithelium through intestinal PPARα.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of perilipin 2 (PLIN2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ADFP_2401 (e-PCR)
- UniSTS:280434

STS-W55904 (e-PCR)
- UniSTS:48523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid storage	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty acid transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sequestering of triglyceride	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: perilipin-2

Names: adipophilin; adipose differentiation-related protein

NCBI Reference Sequences (RefSeq)

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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_001122.4 → NP_001113.2 perilipin-2

See identical proteins and their annotated locations for NP_001113.2

Status: REVIEWED

Description

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

Source sequence(s)

BC005127, BI494696, CN277218

Consensus CDS

CCDS6490.1

UniProtKB/Swiss-Prot

Q99541, Q9BSC3

UniProtKB/TrEMBL

B4DJK9, Q6FHZ7

Related

ENSP00000276914.2, ENST00000276914.7

Conserved Domains (1) summary

pfam03036
Location:6 → 395

Perilipin; Perilipin family

RNA

NR_038064.2 RNA Sequence

Status: REVIEWED

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

19108388..19127492 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017014259.3 → XP_016869748.1 perilipin-2 isoform X1

UniProtKB/TrEMBL

B4DJK9

Conserved Domains (1) summary

pfam03036
Location:6 → 395

Perilipin; Perilipin family