PLIN2

perilipin 2, the group of Perilipins

Basic information

Region (hg38): 9:19108374-19149290

Previous symbols: [ "ADFP" ]

Links

ENSG00000147872 ∙ NCBI:123 ∙ OMIM:103195 ∙ HGNC:248 ∙ Uniprot:Q99541 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLIN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLIN2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22	1	2	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	2

Variants in PLIN2

This is a list of pathogenic ClinVar variants found in the PLIN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-19116273-T-A		not specified	Uncertain significance (Dec 19, 2022)
9-19116367-T-C		not specified	Uncertain significance (Apr 29, 2024)
9-19116370-G-C		not specified	Uncertain significance (Oct 10, 2023)
9-19116397-T-C		not specified	Uncertain significance (Mar 07, 2024)
9-19116433-G-T		not specified	Uncertain significance (Dec 15, 2023)
9-19116570-T-A		not specified	Uncertain significance (Mar 20, 2023)
9-19116591-G-A			Benign (May 25, 2018)
9-19116634-T-C		not specified	Uncertain significance (Jun 10, 2022)
9-19116636-C-T		not specified	Uncertain significance (Sep 06, 2022)
9-19118326-C-T		not specified	Uncertain significance (Jun 19, 2024)
9-19118355-C-T		not specified	Uncertain significance (Jan 24, 2024)
9-19118389-A-G		not specified	Uncertain significance (Sep 17, 2021)
9-19118425-C-G		not specified	Uncertain significance (Sep 26, 2023)
9-19118449-A-G		not specified	Uncertain significance (Feb 28, 2023)
9-19119699-T-C		not specified	Uncertain significance (Mar 22, 2022)
9-19119771-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-19119783-C-G		not specified	Uncertain significance (Dec 14, 2021)
9-19119787-G-C		not specified	Uncertain significance (Feb 15, 2023)
9-19119801-T-A		not specified	Uncertain significance (Jan 09, 2024)
9-19120937-G-C		not specified	Uncertain significance (May 03, 2023)
9-19120982-C-G			Benign (Feb 08, 2018)
9-19121077-G-A		not specified	Uncertain significance (Oct 10, 2023)
9-19121101-C-T		not specified	Uncertain significance (Sep 25, 2023)
9-19123602-T-G		not specified	Uncertain significance (Oct 05, 2023)
9-19123632-G-A		not specified	Likely benign (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLIN2	protein_coding	protein_coding	ENST00000276914	7	40916

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.53e-9	0.274	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.956	285	243	1.17	0.0000128	2869
Missense in Polyphen		51	45.953	1.1098		629
Synonymous	0.884	84	95.0	0.885	0.00000532	861
Loss of Function	0.618	14	16.7	0.837	7.07e-7	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000331	0.000329
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000201	0.000193
Middle Eastern	0.000381	0.000381
South Asian	0.000199	0.000196
Other	0.000181	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in development and maintenance of adipose tissue. {ECO:0000250}.
• Pathway: PPAR signaling pathway - Homo sapiens (human);Adipogenesis;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);HIF-1-alpha transcription factor network (Consensus)

Recessive Scores

• pRec: 0.488

Intolerance Scores

• loftool: 0.880
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.31

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.216
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Plin2
• Phenotype: endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; vision/eye phenotype

Gene ontology

• Biological process: response to organic cyclic compound;long-chain fatty acid transport;regulation of lipid metabolic process;lipid storage;response to drug
• Cellular component: extracellular region;nucleus;endoplasmic reticulum;lipid droplet;cytosol;plasma membrane