PLIN2

perilipin 2, the group of Perilipins

Basic information

Region (hg38): 9:19108375-19149290

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.

not_specified (57 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_000001122.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			56 clinvar	2 clinvar	2 clinvar	60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	62	2	2

Loading clinvar variants...

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
Molecular function