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Pnpla6 Gene Detail
Summary
  • Symbol
    Pnpla6
  • Name
    patatin-like phospholipase domain containing 6
  • Synonyms
    MSws, Nte, Swiss-cheese
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354723
    NCBI Gene: 50767
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:3565384-3594267 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 1.92 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    631 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354723
 protein coding gene Chr8:3565341-3594267 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033306
 protein coding gene Chr8:436131-464891 (+)
A/J MGP_AJ_G0033289
 protein coding gene Chr8:425576-454389 (+)
AKR/J MGP_AKRJ_G0033220
 protein coding gene Chr8:443945-476517 (+)
BALB/cJ MGP_BALBcJ_G0033289
 protein coding gene Chr8:454015-482731 (+)
C3H/HeJ MGP_C3HHeJ_G0033003
 protein coding gene Chr8:455521-484510 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033799
 protein coding gene Chr8:469641-499252 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030772
 protein coding gene Chr8:381745-410593 (+)
CAST/EiJ MGP_CASTEiJ_G0032326
 protein coding gene Chr8:459367-488216 (+)
CBA/J MGP_CBAJ_G0032976
 protein coding gene Chr8:489053-519651 (+)
DBA/2J MGP_DBA2J_G0033130
 protein coding gene Chr8:395481-425895 (+)
FVB/NJ MGP_FVBNJ_G0033077
 protein coding gene Chr8:446793-476560 (+)
LP/J MGP_LPJ_G0033222
 protein coding gene Chr8:439702-468358 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033112
 protein coding gene Chr8:473686-503433 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033817
 protein coding gene Chr8:441270-471117 (+)
PWK/PhJ MGP_PWKPhJ_G0032036
 protein coding gene Chr8:416651-446145 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031880
 protein coding gene Chr8:434850-465321 (+)
WSB/EiJ MGP_WSBEiJ_G0032439
 protein coding gene Chr8:430889-460637 (+)



Homology
more
  • Human Ortholog
    PNPLA6, patatin like phospholipase domain containing 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PNPLA6, patatin like phospholipase domain containing 6
  • Synonyms
    BNHS, iPLA2delta, LNMS, NTE, NTEMND, OMCS, SPG39, sws
  • Links
    NCBI Gene ID: 10908
    neXtProt AC: NX_Q8IY17
    UniProt: Q8IY17

  • Chr Location
    19p13.2; chr19:7534004-7561767 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PNPLA6 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 3 alleles in 3 genetic backgrounds
    12 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.
Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    8
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
membraneless 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
    871
  • Tissues
    153
  • cDNA Data
    97
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004565 Ensembl Gene Model | MGI Sequence Detail 28884 C57BL/6J ±  kb
    transcript ENSMUST00000208002 Ensembl | MGI Sequence Detail 4444 Not Applicable  
    polypeptide ENSMUSP00000146680 Ensembl | MGI Sequence Detail 1345 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000012946 patatin-like phospholipase domain-containing protein 6
      (term hierarchy)
    • EC
      3.1.1.5
    • InterPro Domains
      IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
      IPR000595 Cyclic nucleotide-binding domain
      IPR018490 Cyclic nucleotide-binding domain superfamily
      IPR001423 Lysophospholipase patatin, conserved site
      IPR050301 Neuropathy target esterase
      IPR002641 Patatin-like phospholipase domain
      IPR014710 RmlC-like jelly roll fold
    • GlyGen
      Q3TRM4 2 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 99
      Genomic 1
      cDNA 98

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142609
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 4
      Gene Ontology 8
      Phenotypes 12
    • Earliest
      J:60427 Moser M, et al., Cloning and expression of the murine sws/NTE gene. Mech Dev. 2000 Feb;90(2):279-82
    • Latest
      J:242044 McFerrin J, et al., NTE/PNPLA6 is expressed in mature Schwann cells and is required for glial ensheathment of Remak fibers. Glia. 2017 May;65(5):804-816
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory