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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
Location & Maps
more
  • Sequence Map
    Chr8:3515384-3544266 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28883 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PNPLA6, patatin like phospholipase domain containing 6
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PNPLA6, patatin like phospholipase domain containing 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BNHS, iPLA2delta, LNMS, NTE, NTEMND, OMCS, SPG39, sws
  • Links
    NCBI Gene ID: 10908
    neXtProt AC: NX_Q8IY17

  • Chr Location
    19p13.2; chr19:7534152-7561767 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pnpla6 mouse models; 4 with human PNPLA6 associations

Human Disease Mouse Models
       Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive   OMIM: 256840 View 1 model
       Boucher-Neuhauser Syndrome; BNHS   OMIM: 215470
Laurence-Moon Syndrome; LNMS   OMIM: 245800
Oliver-Mcfarlane Syndrome; OMCS   OMIM: 275400
Spastic Paraplegia 39, Autosomal Recessive; SPG39   OMIM: 612020
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    9 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
    10
  • Gene trapped
    5
  • Targeted
    5
  • Incidental Mutations
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
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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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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000004565 Ensembl Gene Model | MGI Sequence Detail 28883 C57BL/6J ±  kb
transcript ENSMUST00000004681 Ensembl | MGI Sequence Detail 4437 Not Applicable  
polypeptide ENSMUSP00000004681 Ensembl | MGI Sequence Detail 1327 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    164 from dbSNP Build 137
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000012946 neuropathy target esterase
  • EC
  • InterPro Domains
    IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
    IPR000595 Cyclic nucleotide-binding domain
    IPR018490 Cyclic nucleotide-binding-like
    IPR001423 Lysophospholipase patatin, conserved site
    IPR002641 Patatin/Phospholipase A2-related
    IPR014710 RmlC-like jelly roll fold
Molecular
Reagents
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  • All nucleic 96
    Genomic 1
    cDNA 95

    Microarray probesets 3
Other
Accession IDs
less
MGI:2142609
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 6
    Phenotypes 9
  • 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:152759 Read DJ, et al., Neuropathy target esterase is required for adult vertebrate axon maintenance. J Neurosci. 2009 Sep 16;29(37):11594-600

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory