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Pnpla2 Gene Detail
Summary
  • Symbol
    Pnpla2
  • Name
    patatin-like phospholipase domain containing 2
  • Synonyms
    0610039C21Rik, 1110001C14Rik, Atgl, desnutrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914103
    NCBI Gene: 66853
  • Gene Overview
    MyGene.info: PNPLA2
Location & Maps
more
  • Sequence Map
    Chr7:141455198-141460743 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5546 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PNPLA2, patatin like phospholipase domain containing 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PNPLA2, patatin like phospholipase domain containing 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    1110001C14Rik, ATGL, FP17548, iPLA2zeta, PEDF-R, TTS2, TTS-2.2
  • Links
    NCBI Gene ID: 57104
    neXtProt AC: NX_Q96AD5

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

Human Diseases
more
  • Diseases
    1 with human PNPLA2 associations

Human Disease Mouse Models
       Neutral Lipid Storage Disease with Myopathy; NLSDM   OMIM: 610717
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 6 alleles in 8 genetic backgrounds
    2 images
    47 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Radiation induced
    1
  • Targeted
    5
  • Transgenic
    2
  • Genomic Mutations
    1 involving Pnpla2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    12 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012942 patatin-like phospholipase domain-containing protein 2
  • EC
  • InterPro Domains
    IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
    IPR002641 Patatin/Phospholipase A2-related
Molecular
Reagents
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  • All nucleic 200
    cDNA 200

    Microarray probesets 4
Other
Accession IDs
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MGI:1915801
References
more
  • Summaries
    All 88
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 47
  • 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:228429 Sanders MA, et al., Endogenous and Synthetic ABHD5 Ligands Regulate ABHD5-Perilipin Interactions and Lipolysis in Fat and Muscle. Cell Metab. 2015 Nov 3;22(5):851-60

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory