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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
  • Alliance
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:141455198-141460743 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 86.81 cM, cytoband F5
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    12 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914103
protein coding gene Chr7:141455188-141460743 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033232
protein coding gene Chr7:146646506-146652045 (+)
A/J MGP_AJ_G0033214
protein coding gene Chr7:142452155-142457701 (+)
AKR/J MGP_AKRJ_G0033146
protein coding gene Chr7:146404217-146409759 (+)
BALB/cJ MGP_BALBcJ_G0033215
protein coding gene Chr7:142197635-142203209 (+)
C3H/HeJ MGP_C3HHeJ_G0032929
protein coding gene Chr7:146139607-146145156 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033726
protein coding gene Chr7:151997661-152004877 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030699
protein coding gene Chr7:143660419-143665955 (+)
CAST/EiJ MGP_CASTEiJ_G0032259
protein coding gene Chr7:138452354-138457897 (+)
CBA/J MGP_CBAJ_G0032901
protein coding gene Chr7:157159083-157164622 (+)
DBA/2J MGP_DBA2J_G0033053
protein coding gene Chr7:140397653-140403192 (+)
FVB/NJ MGP_FVBNJ_G0033006
protein coding gene Chr7:140311916-140317470 (+)
LP/J MGP_LPJ_G0033148
protein coding gene Chr7:148140559-148146129 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033039
protein coding gene Chr7:157792231-157797784 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033746
protein coding gene Chr7:145362016-145367562 (+)
PWK/PhJ MGP_PWKPhJ_G0031963
protein coding gene Chr7:133682719-133688311 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031810
protein coding gene Chr7:132195892-132201446 (+)
WSB/EiJ MGP_WSBEiJ_G0032370
protein coding gene Chr7:146310494-146316006 (+)



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: HomoloGene, HGNC
  • Synonyms
    1110001C14Rik, ATGL, FP17548, iPLA2zeta, PEDF-R, TTS2, TTS-2.2
  • Links
    NCBI Gene ID: 57104
    neXtProt AC: NX_Q96AD5
    UniProt: Q96AD5

  • Chr Location
    11p15.5; chr11:818895-825573 (+)  GRCh38.p7

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

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000025509 Ensembl Gene Model | MGI Sequence Detail 5546 C57BL/6J ±  kb
transcript ENSMUST00000164016 Ensembl | MGI Sequence Detail 2625 Not Applicable  
polypeptide ENSMUSP00000127149 Ensembl | MGI Sequence Detail 486 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000012942 patatin-like phospholipase domain-containing protein 2
  • EC
  • InterPro Domains
    IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
    IPR002641 Patatin-like phospholipase domain
    IPR033562 Patatin-like phospholipase domain-containing protein
    IPR033903 Patatin-like phospholipase domain-containing protein 2
Molecular
Reagents
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  • All nucleic 200
    cDNA 200

    Microarray probesets 4
Other
Accession IDs
less
MGI:1915801
References
more
  • Summaries
    All 135
    Developmental Gene Expression 4
    Gene Ontology 10
    Phenotypes 65
  • Earliest
    J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
  • Latest
    J:265151 Parajuli N, et al., Atglistatin ameliorates functional decline in heart failure via adipocyte-specific inhibition of adipose triglyceride lipase. Am J Physiol Heart Circ Physiol. 2018 Oct 1;315(4):H879-H884

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
11/06/2018
MGI 6.13
The Jackson Laboratory