PLIN4

protein-coding

perilipin 4, the group of Perilipins

Gene summary

Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]

Previous symbols:

KIAA1881

MANE transcript

NM_001367868.2

Inheritance

ClinVar variants

P:2U:254B:119

Top phenotype

Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr19:4,502,192-4,518,486

External References & Databases

Ensembl (ENSG00000167676)

Transcript & Mutation Effects

hg38 • Region Span ~16.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

vacuolar NeuromyopathyMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0011155

Submitter: Ambry Genetics

Clinical Genomic Database (CGD)

Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominantAD

Manifestation: Musculoskeletal

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 32451610; 35499779; 36151849; 37145156

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PLIN4 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 268

not providedTotal: 98

Vacuolar NeuromyopathyTotal: 3

Coffin-Siris syndrome 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367868.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			8 clinvar	77 clinvar	1 clinvar	86
missense			245 clinvar	36 clinvar	3 clinvar	284
nonsense					1 clinvar	1
start loss						0
frameshift		1 clinvar	1 clinvar	1 clinvar		3
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	0	2	254	114	5	375

Highest pathogenic variant AF is 0.00000499435

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367868.2	RefSeq	NP_001354797.1	7	MANE Select
ENST00000301286.5	Ensembl	ENSP00000301286.4	7	MANE Select
NM_001393888.1	RefSeq	NP_001380817.1	7	Standard
NM_001393889.1	RefSeq	NP_001380818.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PPAR signaling pathway - Homo sapiens (human)

Cellular Component

lipid droplet
cytosol
plasma membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301286
Coding exons: 6
Length: 15513
Individuals with no LoFs: 124312
Homozygous LoFs: 40
Heterozygous LoFs: 379
Defined: 124731
p: 0.00168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.68	901	770	1.17	0.0000486	8425
Missense (PolyPhen)		209	195.72	1.0679		2374
Synonymous	-7.45	522	346	1.51	0.0000265	2964
Loss of Function	-0.502	22	19.6	1.12	8.49e-7	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0011	notable
Latino/Admixed American	0.0019	0.0018	notable
Ashkenazi Jewish	0.00070	0.00050	rare
East Asian	0.0029	0.0028	notable
Finnish	0.00074	0.00065	rare
European (Non-Finnish)	0.0021	0.0019	notable
South Asian	0.0018	0.0015	notable
Other	0.0023	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.888
RVIS EVS: 5.99
RVIS percentile EVS: 99.86

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High