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Pnpla2
Gene Detail
Symbol

Name
ID
Pnpla2
patatin-like phospholipase domain containing 2
MGI:1914103
Synonyms
0610039C21Rik, 1110001C14Rik, Atgl, desnutrin
Feature Type
protein coding gene
Genetic Map
Chromosome 7
86.81 cM, cytoband F5
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr7:141455198-141460743 bp, + strand
From VEGA annotation of GRCm38

  5546 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10687  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Pnpla2

Human
homologs
Human Homolog PNPLA2, patatin-like phospholipase domain containing 2
NCBI Gene ID 57104
neXtProt AC  NX_Q96AD5
Human Synonyms  1110001C14Rik, ATGL, iPLA2zeta, PEDF-R, TTS2, TTS-2.2
Human Chr (Location)  11p15.5; chr11:818901-825573 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PNPLA2
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality.
 
Phenotype Images(2)
Interactions
Pnpla2 interacts with 208 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process lipid catabolic process, lipid metabolic process, ...
Component cytosol, integral component of membrane, ...
Function hydrolase activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(200)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(200) cDNA(200)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000035378 (Evidence)
Ensembl Gene ModelENSMUSG00000025509 (Evidence)
Entrez Gene66853 (Evidence)
UniGene29998
DFCITC1595844, TC1658365, TC1599711, TC1572629, TC1598074
DoTSDT.101242443, DT.91359355, DT.101381420, DT.101736496, DT.101736498
NIA Mouse Gene IndexU029461, U008961
EC3.1.1.3
Consensus CDS ProjectCCDS22015.1, CCDS52445.1
International Mouse Knockout Project StatusPnpla2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035378 VEGA Gene Model | MGI Sequence Detail 5546 C57BL/6J ±  kb
transcript OTTMUST00000090404 VEGA | MGI Sequence Detail 2625 Not Applicable 
polypeptide OTTMUSP00000049587 VEGA | MGI Sequence Detail 486 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(5) UniProt(9)
Polymorphisms
SNPs within 2kb(12 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
InterPro IPR002641 Patatin/Phospholipase A2-related
Protein Ontology PR:000012942 patatin-like phospholipase domain-containing protein 2
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:212479 Schrammel A, et al., Endothelial dysfunction in adipose triglyceride lipase deficiency. Biochim Biophys Acta. 2014 Jun;1841(6):906-17
All references(74)
Other
accession IDs
MGI:1915801

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory