LIPG

protein-coding

lipase G, endothelial type, the group of Lipases

Gene summary

The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]

MANE transcript

NM_006033.4

Inheritance

—

ClinVar variants

U:130B:69

Top phenotype

LIPG-related disorder

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr18:49,560,699-49,599,185

External References & Databases

Ensembl (ENSG00000101670)

Transcript & Mutation Effects

hg38 • Region Span ~38.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LIPG variants in ClinVar

3 Conditions Cataloged

not providedTotal: 193

not specifiedTotal: 56

LIPG-related disorderTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006033.4. 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			1 clinvar	49 clinvar	5 clinvar	55
missense			118 clinvar	9 clinvar	6 clinvar	133
nonsense			2 clinvar			2
start loss						0
frameshift			5 clinvar			5
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	130	58	11	199

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006033.4	RefSeq	NP_006024.1	10	MANE Select
ENST00000261292.9	Ensembl	ENSP00000261292.4	10	MANE Select
NM_001308006.2	RefSeq	NP_001294935.1	9	Standard
ENST00000427224.6	Ensembl	ENSP00000387978.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycerolipid metabolism - Homo sapiens (human)
Cholesterol metabolism - Homo sapiens (human)
HDL remodeling
Transport of small molecules
Glycerophospholipid metabolism

Biological Process

lipid metabolic process
response to nutrient
cell population proliferation
phospholipid catabolic process
positive regulation of high-density lipoprotein particle clearance

Molecular Function

lipoprotein lipase activity
phospholipase activity
heparin binding
phospholipase A1 activity

Cellular Component

extracellular region
extracellular space
early endosome
Golgi apparatus
cell surface

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261292
Coding exons: 10
Length: 32204
Individuals with no LoFs: 125673
Homozygous LoFs: 0
Heterozygous LoFs: 75
Defined: 125748
p: 0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.857	257	299	0.860	0.0000190	3319
Missense (PolyPhen)		103	130.55	0.78895		1471
Synonymous	-1.20	134	117	1.14	0.00000808	945
Loss of Function	0.907	18	22.7	0.794	0.00000116	267

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.0021	0.0021	notable
European (Non-Finnish)	0.00013	0.00011	rare
South Asian	0.00023	0.00023	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin.;

Recessive Scores

pRec: 0.336

Intolerance Scores

LoFtool: 0.249
RVIS EVS: 0.49
RVIS percentile EVS: 79.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.766

Gene Damage Prediction

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