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Pnpla7 Gene Detail
Summary
  • Symbol
    Pnpla7
  • Name
    patatin-like phospholipase domain containing 7
  • Synonyms
    E430013P11Rik, MGC:6929, NRE
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385325
    NCBI Gene: 241274
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24866045-24944069 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 16.88 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    372 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385325
 protein coding gene Chr2:24865235-24944084 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025417
 protein coding gene Chr2:22820318-22903887 (+)
A/J MGP_AJ_G0025394
 protein coding gene Chr2:21930875-22017204 (+)
AKR/J MGP_AKRJ_G0025364
 protein coding gene Chr2:22686660-22769047 (+)
BALB/cJ MGP_BALBcJ_G0025390
 protein coding gene Chr2:22056169-22139267 (+)
C3H/HeJ MGP_C3HHeJ_G0025151
 protein coding gene Chr2:22613466-22698772 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025834
 protein coding gene Chr2:23548318-23639465 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023245
 protein coding gene Chr2:20869512-20951759 (+)
CAST/EiJ MGP_CASTEiJ_G0024614
 protein coding gene Chr2:22498760-22582131 (+)
CBA/J MGP_CBAJ_G0025129
 protein coding gene Chr2:24361268-24469609 (+)
DBA/2J MGP_DBA2J_G0025262
 protein coding gene Chr2:21793351-21875235 (+)
FVB/NJ MGP_FVBNJ_G0025224
 protein coding gene Chr2:21535550-21613445 (+)
LP/J MGP_LPJ_G0025348
 protein coding gene Chr2:22765137-22855169 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025255
 protein coding gene Chr2:24592650-24685424 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025893
 protein coding gene Chr2:22625601-22712391 (+)
PWK/PhJ MGP_PWKPhJ_G0024362
 protein coding gene Chr2:21597875-21682342 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024162
 protein coding gene Chr2:22769021-22860986 (+)
WSB/EiJ MGP_WSBEiJ_G0024683
 protein coding gene Chr2:22701374-22785981 (+)



Homology
more
  • Human Ortholog
    PNPLA7, patatin like phospholipase domain containing 7
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PNPLA7, patatin like phospholipase domain containing 7
  • Synonyms
    C9orf111, NTEL1, NTE-R1
  • Links
    NCBI Gene ID: 375775
    neXtProt AC: NX_Q6ZV29
    UniProt: Q6ZV29

  • Chr Location
    9q34.3; chr9:137459952-137550402 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 2 alleles in 2 genetic backgrounds
    7 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
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit premature death, weight loss, kyphosis, thin muscle fibers, decreased subcutaneous and visceral adipose tissue, increased food intake, hyperactivity, increased oxygen consumption, decreased body temperature, and browned white adipose tissue morphology with altered choline metabolism.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    5
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    721
  • Tissues
    9
  • cDNA Data
    76
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036833 Ensembl Gene Model | MGI Sequence Detail 78025 C57BL/6J ±  kb
    transcript ENSMUST00000045295 Ensembl | MGI Sequence Detail 4574 Not Applicable  
    polypeptide ENSMUSP00000044078 Ensembl | MGI Sequence Detail 1352 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 77
      cDNA 77

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2442947
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:333442 Hirabayashi T, et al., Hepatic phosphatidylcholine catabolism driven by PNPLA7 and PNPLA8 supplies endogenous choline to replenish the methionine cycle with methyl groups. Cell Rep. 2023 Jan 30;42(2):111940
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory