PNLIPRP2

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

Basic information

Region (hg38): 10:116620952-116645143

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.

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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in PNLIPRP2

This is a list of pathogenic ClinVar variants found in the PNLIPRP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-116626934-C-T		not specified	Uncertain significance (Nov 08, 2022)
10-116630009-C-T		not specified	Uncertain significance (Feb 28, 2023)
10-116631345-G-C		not specified	Uncertain significance (Jul 14, 2022)

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

Essentials

• essential_gene_CRISPR2: N

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