AtlasGene
PNPLA2
patatin like domain 2, triacylglycerol lipase
- HGNC 30802↗(opens in a new tab)
- Ensembl gene ENSG00000177666↗(opens in a new tab)
- NCBI Gene 57104↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.5
- Coordinates
- Chromosome 11: 818,914–825,573 (GRCh38)
- Exons
- 10 exons across 6.7 kb
- Protein
- 504 amino acids
- Also known as
- desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta
- MANE Select transcript
- ENST00000336615.9NM_020376.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/pnpla2.json"
page <- fromJSON(url)
page$gene$nameRead PNPLA2, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How PNPLA2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 6.7 kb; 1,515 of those bases code for the protein.
Sequencing PNPLA2
6Low
How hard PNPLA2 is to sequence with short reads, out of 100Each bar is the share of PNPLA2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.0.8%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.61%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
32
positions in PNPLA2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 6.7 kb of PNPLA2, introns included, not only the 2.4 kb of exons.
Genes linked to the same conditions
- ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseShares 1 condition
- AGAaspartylglucosaminidaseShares 1 condition
- AP5Z1adaptor related protein complex 5 subunit zeta 1Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ARSBarylsulfatase BShares 1 condition
- ARSKarylsulfatase family member KShares 1 condition
- ASAH1N-acylsphingosine amidohydrolase 1Shares 1 condition
- CLCN6Cl-/H+ antiporter 6Shares 1 condition
- CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninShares 1 condition
- CLN5CLN5 lysosomal BMP synthaseShares 1 condition
- CLN6CLN6 transmembrane ER proteinShares 1 condition
- CLN8CLN8 transmembrane ER and ERGIC proteinShares 1 condition
Traits linked to PNPLA2
The Human Phenotype Ontology lists these as features of the rare conditions PNPLA2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Abnormal heart rate
- Angina pectoris
- Disease of the heart muscle
- Low-output congestive heart failure
- Narrowing of coronary artery
- Palpitations
- Plaque build-up in arteries supplying blood to heart
- Cardiac failure
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-e609d43e.
Cite this page
Dante Labs. (n.d.). PNPLA2 gene: patatin like domain 2, triacylglycerol lipase. Retrieved 18 October 2026, from https://dantelabs.com/genes/pnpla2
Dante Labs. PNPLA2 gene: patatin like domain 2, triacylglycerol lipase [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/pnpla2
AtlasOne test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks