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Pnpla3 Gene Detail
Summary
  • Symbol
    Pnpla3
  • Name
    patatin-like phospholipase domain containing 3
  • Synonyms
    Adpn
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151796
    NCBI Gene: 116939
  • Gene Overview
    MyGene.info: PNPLA3
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:84167837-84187236 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 39.78 cM, cytoband E3
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    44 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2151796
protein coding gene Chr15:84167784-84189521 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022174
protein coding gene Chr15:84926216-84951525 (+)
A/J MGP_AJ_G0022133
protein coding gene Chr15:81801386-81824934 (+)
AKR/J MGP_AKRJ_G0022108
protein coding gene Chr15:84187105-84210075 (+)
BALB/cJ MGP_BALBcJ_G0022139
protein coding gene Chr15:81940486-81962021 (+)
C3H/HeJ MGP_C3HHeJ_G0021909
protein coding gene Chr15:84139406-84166284 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022584
protein coding gene Chr15:88169245-88194108 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020109
protein coding gene Chr15:78166997-78188501 (+)
CAST/EiJ MGP_CASTEiJ_G0021431
protein coding gene Chr15:84933339-84958746 (+)
CBA/J MGP_CBAJ_G0021876
protein coding gene Chr15:91008148-91038853 (+)
DBA/2J MGP_DBA2J_G0022003
protein coding gene Chr15:81283582-81306614 (+)
FVB/NJ MGP_FVBNJ_G0021982
protein coding gene Chr15:80338312-80361254 (+)
LP/J MGP_LPJ_G0022074
protein coding gene Chr15:85089867-85113343 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022002
protein coding gene Chr15:95847525-95875932 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022599
protein coding gene Chr15:84188167-84215599 (+)
PWK/PhJ MGP_PWKPhJ_G0021172
protein coding gene Chr15:81277548-81299868 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021006
protein coding gene Chr15:83902853-83927804 (+)
WSB/EiJ MGP_WSBEiJ_G0021480
protein coding gene Chr15:84696828-84720477 (+)



Homology
more
  • Human Ortholog
    PNPLA3, patatin like phospholipase domain containing 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PNPLA3, patatin like phospholipase domain containing 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADPN, C22orf20, iPLA(2)epsilon
  • Links
    NCBI Gene ID: 80339
    neXtProt AC: NX_Q9NST1
    UniProt: Q9NST1

  • Chr Location
    22q13.31; chr22:43923739-43947568 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pnpla3 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 3 alleles in 2 genetic backgrounds
    28 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 a knock-out allele exhibit normal energy, glucose, and lipid homeostasis.
Gene Ontology
(GO)
Classifications
less
  • 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
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041653 Ensembl Gene Model | MGI Sequence Detail 19400 C57BL/6J ±  kb
    transcript ENSMUST00000045289 Ensembl | MGI Sequence Detail 1313 Not Applicable  
    polypeptide ENSMUSP00000043826 Ensembl | MGI Sequence Detail 384 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • EC
    • InterPro Domains
      IPR039185 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
      IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
      IPR002641 Patatin-like phospholipase domain
      IPR033562 Patatin-like phospholipase domain-containing protein
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 1
      cDNA 15

      Microarray probesets 4
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 7
      Phenotypes 28
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:264017 Mitsche MA, et al., Patatin-like phospholipase domain-containing protein 3 promotes transfer of essential fatty acids from triglycerides to phospholipids in hepatic lipid droplets. J Biol Chem. 2018 May 4;293(18):6958-6968

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory