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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

HCOP human homology predictions: PNPLA2
Gene Tree: Pnpla2

Human
homologs
PNPLA2, patatin-like phospholipase domain containing 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 57104
neXtProt AC: NX_Q96AD5

Human Synonyms: 1110001C14Rik, ATGL, FP17548, iPLA2zeta, PEDF-R, TTS2, TTS-2.2

Human Chr (Location): 11p15.5; chr11:818891-825573 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PNPLA2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(5) Transgenic(1)
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 207 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pnpla2    NEW 
Molecular
reagents
All nucleic(200) cDNA(200)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000035378 (Evidence)
Ensembl Gene Model ENSMUSG00000025509 (Evidence)
Entrez Gene 66853 (Evidence)
UniGene 29998
DFCI TC1572629, TC1595844, TC1598074, TC1599711, TC1658365
DoTS DT.101242443, DT.101381420, DT.101736496, DT.101736498, DT.91359355
NIA Mouse Gene Index U008961, U029461
EC 3.1.1.3
Consensus CDS Project CCDS22015.1, CCDS52445.1
International Mouse Phenotyping Consortium Status Pnpla2
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(82) RefSeq(5) UniProt(5)
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:219885 Perry RJ, et al., Hepatic acetyl CoA links adipose tissue inflammation to hepatic insulin resistance and type 2 diabetes. Cell. 2015 Feb 12;160(4):745-58
All references(82)
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
08/25/2015
MGI 6.0
The Jackson Laboratory