PLIN5

perilipin 5, the group of Perilipins

Basic information

Region (hg38): 19:4522530-4535224

Links

ENSG00000214456 ∙ NCBI:440503 ∙ OMIM:613248 ∙ HGNC:33196 ∙ Uniprot:Q00G26 ∙ 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 PLIN5 gene.

• Inborn genetic diseases (39 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLIN5 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			35	4		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	4	0

Variants in PLIN5

This is a list of pathogenic ClinVar variants found in the PLIN5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-4523533-A-G		not specified	Uncertain significance (Jun 16, 2023)
19-4523542-C-G		not specified	Uncertain significance (Dec 28, 2023)
19-4523565-G-A		not specified	Uncertain significance (Feb 23, 2023)
19-4523583-G-A		not specified	Uncertain significance (Feb 06, 2023)
19-4523605-C-T		not specified	Uncertain significance (May 11, 2022)
19-4523611-C-A		not specified	Uncertain significance (Apr 22, 2022)
19-4523716-C-A		not specified	Uncertain significance (Sep 13, 2023)
19-4523719-C-T		not specified	Uncertain significance (Jun 24, 2022)
19-4523757-G-T		not specified	Uncertain significance (Apr 12, 2023)
19-4523811-G-A		not specified	Uncertain significance (Jan 19, 2024)
19-4523869-C-T		not specified	Uncertain significance (Jun 07, 2022)
19-4523874-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-4523878-G-A		not specified	Uncertain significance (Apr 11, 2023)
19-4523880-C-T		not specified	Uncertain significance (Sep 27, 2022)
19-4523898-G-A		not specified	Uncertain significance (Jul 20, 2021)
19-4523919-C-T		not specified	Uncertain significance (Aug 02, 2021)
19-4523961-C-T		not specified	Uncertain significance (Nov 22, 2021)
19-4523992-C-G		not specified	Likely benign (Aug 02, 2021)
19-4523992-C-T		not specified	Uncertain significance (Feb 27, 2023)
19-4524003-C-T		not specified	Uncertain significance (Aug 22, 2023)
19-4524023-C-A		not specified	Likely benign (Dec 21, 2023)
19-4524048-G-A		not specified	Uncertain significance (Jan 11, 2023)
19-4524057-C-A		not specified	Uncertain significance (Dec 22, 2023)
19-4524058-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-4524973-C-A		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLIN5	protein_coding	protein_coding	ENST00000381848	7	12694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.05e-11	0.0238	124766	0	42	124808	0.000168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.520	301	277	1.09	0.0000190	2890
Missense in Polyphen		110	101.82	1.0804		1048
Synonymous	-0.0335	126	126	1.00	0.00000907	979
Loss of Function	-0.366	16	14.5	1.10	6.75e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00112	0.00111
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000108	0.000106
Middle Eastern	0.0000557	0.0000556
South Asian	0.000200	0.000196
Other	0.000175	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hydrolase activity of PNPLA2 by recruiting and sequestering PNPLA2 to lipid droplets. Phosphorylation by PKA enables lipolysis probably by promoting release of ABHD5 from the perilipin scaffold and by facilitating interaction of ABHD5 with PNPLA2. Also increases lipolysis through interaction with LIPE and upon PKA-mediated phosphorylation of LIPE (By similarity). {ECO:0000250, ECO:0000269|PubMed:17234449}.
• Pathway: PPAR signaling pathway - Homo sapiens (human);Lipid storage and perilipins in skeletal muscle (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.432

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: Plin5
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of triglyceride biosynthetic process;positive regulation of lipid storage;positive regulation of sequestering of triglyceride;negative regulation of triglyceride catabolic process;lipid storage;negative regulation of fatty acid beta-oxidation;positive regulation of fatty acid beta-oxidation;lipid droplet organization;negative regulation of peroxisome proliferator activated receptor signaling pathway;mitochondrion localization;negative regulation of lipase activity;positive regulation of lipase activity;negative regulation of reactive oxygen species metabolic process
• Cellular component: cytoplasm;mitochondrion;lipid droplet;cytosol
• Molecular function: lipase binding;identical protein binding