PNLIPRP2

pancreatic lipase related protein 2 (gene/pseudogene), the group of Lipases

Basic information

Region (hg38): 10:116620953-116645143

Links

ENSG00000266200

∙ NCBI:5408 ∙ OMIM:604423 ∙ HGNC:9157 ∙ Uniprot:P54317 ∙ 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 PNLIPRP2 gene.

Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNLIPRP2 gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
missense			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	3	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Lipase with broad substrate specificity. Can hydrolyze both phospholipids and galactolipids. Acts preferentially on monoglycerides, phospholipids and galactolipids. Contributes to milk fat hydrolysis. {ECO:0000269|PubMed:18702514, ECO:0000269|PubMed:19824014, ECO:0000269|PubMed:20083229}.;
Pathway: Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Glycerophospholipid metabolism;triacylglycerol degradation;Digestion of dietary lipid;Digestion;Digestion and absorption (Consensus)

Haploinsufficiency Scores

pHI: 0.0862
hipred: N
hipred_score: 0.139
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name: Pnliprp2
Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; digestive/alimentary phenotype; immune system phenotype;

Gene ontology

Biological process: triglyceride metabolic process;cellular defense response;phospholipid catabolic process;response to bacterium;galactolipid catabolic process;lipid digestion;intestinal lipid catabolic process
Cellular component: extracellular region;extracellular space
Molecular function: phospholipase activity;triglyceride lipase activity;calcium ion binding;acylglycerol lipase activity;galactolipase activity;1-18:1-2-16:0-monogalactosyldiacylglycerol lipase activity