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Pnpla6
Gene Detail
Symbol

Name
ID
Pnpla6
patatin-like phospholipase domain containing 6
MGI:1354723
Synonyms
MSws, Nte, Swiss-cheese
Feature Type
protein coding gene
Genetic Map
Chromosome 8
1.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr8:3515384-3544266 bp, + strand
From Ensembl annotation of GRCm38

  28883 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21333  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: PNPLA6
Gene Tree: Pnpla6

Human
homologs
PNPLA6, patatin-like phospholipase domain containing 6
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 10908
neXtProt AC: NX_Q8IY17

Human Synonyms: BNHS, iPLA2delta, LNMS, NTE, NTEMND, OMCS, SPG39, sws

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

Disease Associations: (4) Diseases Associated with Human PNPLA6

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(5) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration.
 
Human Diseases Modeled in Mice Using Pnpla6 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Pnpla6 interacts with 83 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process angiogenesis, lipid catabolic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function carboxylic ester hydrolase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (140)    Tissues (130)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 134
Northern blot 6
cDNA source data(94)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pnpla6    NEW 
Molecular
reagents
All nucleic(96) Genomic(1) cDNA(95)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000004565 (Evidence)
Entrez Gene 50767 (Evidence)
UniGene 23085
DFCI TC1590528, TC1606187, TC1576034
DoTS DT.91316459, DT.97338192, DT.60117409, DT.97342056, DT.97340989
NIA Mouse Gene Index U009024
EC 3.1.1.5
Consensus CDS Project CCDS40206.1
International Mouse Phenotyping Consortium Status Pnpla6
Sequences
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 sequences
All sequences(56) RefSeq(29) UniProt(1)
Polymorphisms
SNPs within 2kb(164 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
InterPro IPR000595 Cyclic nucleotide-binding domain
InterPro IPR018490 Cyclic nucleotide-binding-like
InterPro IPR001423 Lysophospholipase patatin, conserved site
InterPro IPR002641 Patatin/Phospholipase A2-related
InterPro IPR014710 RmlC-like jelly roll fold
Protein Ontology PR:000012946 neuropathy target esterase
References
(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
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:2142609

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
06/23/2015
MGI 5.22
The Jackson Laboratory