PNPLA6 Gene
protein-coding GIFtS: 57
GCID: GC19P007506
|
|
patatin-like phospholipase domain containing 6
| |
Aliases
for PNPLA6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Patatin-Like Phospholipase Domain Containing 61 2 | | EC 3.1.1.53 8 | | NTE1 2 3 5 | | NTEMND2 5 | | IPLA2delta1 | | SPG392 5 | | Sws1 | | Neuropathy Target Esterase2 | | Patatin-Like Phospholipase Domain-Containing Protein 62 3 | | |
Export aliases for PNPLA6 gene to outside databasesPrevious GC identifer: GC19P007270 |
Summaries
for PNPLA6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PNPLA6:
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine.It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein isanchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations inthis gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegenerationinduced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding differentisoforms have been found for this gene. (provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine(GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification bycertain organophosphorus (OP) compounds leads to distal axonopathy
Gene Wiki entry for PNPLA6 (Neuropathy target esterase)
|
Genomic Views
for PNPLA6 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_077812.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PNPLA6 gene promoter:
Nkx3-1 AhR SRF AP-1 SRF (504 AA) Arnt c-Ets-1 Pax-3
Other transcription factors
Search SABiosciences Chromatin IP Primers for PNPLA6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNPLA6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2PNPLA6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P007506: view genomic region
(about GC identifiers)
Start:
|
7,599,038 bp from pter |
End:
|
7,626,653 bp from pter |
Size:
|
27,616 bases |
Orientation:
|
plus strand |
|
Proteins
for PNPLA6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17 (See
protein sequence)Recommended Name: Neuropathy target esterase Size: 1366 amino acids; 149995 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side.Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment
Secondary accessions: A6NGQ0 B4DFB9 J3KQS3 O60859 Q86W58 Q9UG58Alternative splicing: 4 isoforms: Q8IY17-1 Q8IY17-2 Q8IY17-3 Q8IY17-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PNPLA6: NX_Q8IY17
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IY17
4/11 DME Specific Peptides for PNPLA6 (Q8IY17) (see all 11)
PNPLA6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001159583.1 NP_001159584.1 NP_001159585.1 NP_001159586.1 NP_006693.3
ENSEMBL proteins: ENSP00000221249 ENSP00000443323 ENSP00000407509 ENSP00000394348
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
PNPLA6 for ontologies About GeneDecksing
PNPLA6 Antibody Products:
Assay Products for PNPLA6: |
Protein
Domains /
Families
for PNPLA6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PNPLA6 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q8IY17ProtoNet protein and cluster: Q8IY17 2 Blocks protein families: IPB000595 Cyclic nucleotide-binding domain IPB001423 Protein of unknown function UPF0028
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17Similarity: Belongs to the NTE familySimilarity: Contains 3 cyclic nucleotide-binding domainsSimilarity: Contains 1 patatin domain |
Function
for PNPLA6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine(GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification bycertain organophosphorus (OP) compounds leads to distal axonopathyCatalytic activity: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylateEnzyme regulation: Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentylphosphinate (PDPP), diisopropyl fluorophosphate and paraoxonEnzyme Number (IUBMB): EC 3.1.1.51 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): PNPLA6 (NM_006702) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPLA6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPLA6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA6 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004622 | lysophospholipase activity |
IEA | -- |
PNPLA6 for ontologies About GeneDecksing
Animal Models:
9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Pnpla6):
PNPLA6 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PNPLA6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Glycerophospholipid biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for PNPLA6):
PNPLA6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNPLA6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/49 Interacting proteins for PNPLA6 (Q8IY173 ENSP000002212494) via UniProtKB, MINT, STRING, and/or I2D (see all 49)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
PNPLA6 for ontologies About GeneDecksing
|
Drugs & Compounds
for PNPLA6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PNPLA6 for compounds About GeneDecksing
 Browse Tocris compounds for PNPLA6
10/1085 HMDB Compounds for PNPLA6 (see all 1085) About this table
10/42 Novoseek chemical compound relationships for PNPLA6 gene (see all 42) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mipafox |
98.1 |
67 |
8337699 (4), 10741477 (3), 8343999 (2), 8568835 (2) (see all 33) |
| phenyl valerate |
97.8 |
46 |
9305588 (4), 10741477 (2), 17615108 (1), 12746135 (1) (see all 21) |
| phenyl-n-methyl-n-benzylcarbamate |
94.7 |
3 |
16897762 (1), 1316117 (1) |
| tocp |
93.4 |
40 |
9823777 (4), 7558652 (2), 10321902 (2), 8344740 (2) (see all 14) |
| dibutyl 2,2-dichlorovinyl phosphate |
92.7 |
4 |
7974486 (2), 1316117 (1) |
| phenyl saligenin phosphate |
92.1 |
14 |
8343999 (2), 19778211 (2), 10321902 (1), 2373292 (1) (see all 7) |
| methamidophos |
88 |
31 |
10774823 (6), 8211998 (3), 7654138 (3), 1660708 (3) (see all 13) |
| diisopropylfluorophosphate |
85.4 |
17 |
8921348 (2), 9305588 (1), 11405252 (1), 8393746 (1) (see all 9) |
| paraoxon |
84.9 |
20 |
7671342 (2), 8291056 (1), 9001593 (1), 9268605 (1) (see all 12) |
| pmsf |
84.4 |
28 |
8572929 (3), 2017753 (3), 8381002 (1), 8393746 (1) (see all 15) |
Search CenterWatch for drugs/clinical trials and news about PNPLA6 / PLPL6
|
Transcripts
for PNPLA6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PNPLA6 gene (5 alternative transcripts): NM_001166111.1 NM_001166112.1 NM_001166113.1 NM_001166114.1 NM_006702.4 Unigene Cluster for PNPLA6: Patatin-like phospholipase domain containing 6 Hs.631863 [show with all ESTs]Unigene Representative Sequence: NM_0011661114 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000221249(uc002mgq.2) ENST00000545201(uc010xjp.2) ENST00000414982(uc010xjq.2 uc002mgs.3)
ENST00000450331(uc002mgr.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): PNPLA6 (NM_006702) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPLA6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPLA6 |
Additional cDNA sequence: AJ004832.1 AK056629.1 AK125037.1 AK293807.1 AK294021.1 AK302462.1 AL050362.1 BC038229.1 BC050553.1 BC051768.1 24/25 DOTS entries (see all 25): DT.95221658 DT.100817132 DT.447244 DT.100861088 DT.97846479 DT.100817129 DT.121456102 DT.100030021 DT.121456077 DT.70104389 DT.95110077 DT.121456075 DT.95213685 DT.95344777 DT.99957665 DT.121456045 DT.95208556 DT.97823944 DT.100658684 DT.100817130 DT.121456058 DT.121456074 DT.91755420 DT.75188312 24/317 AceView cDNA sequences (see all 317): CR616477 BF883797 CA455024 BU147458 BQ771920 CA309350 BF434923 NM_006702 CB306538 AW302233 BQ718330 BM561499 AK026102 CR590291 BU542803 AI240745 BF727209 CA417690 AA345650 AI954786 CA391526 BE545229 BU526849 CD558014
GeneLoc Exon Structure
5/20 Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA6 (see all 20) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 32b | ^ | 33a | · | 33b | ^ | 34a | · | 34b | ^ | 35 | ^ | 36 | ^ | 37 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PNPLA6
|
Expression
for PNPLA6 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PNPLA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACTTTGGGA
About this image
See PNPLA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PNPLA6
SOURCE GeneReport for Unigene cluster: Hs.631863
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17Tissue specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle
SABiosciences Custom PCR Arrays for PNPLA6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNPLA6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNPLA6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNPLA6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNPLA6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA6 |
Orthologs
for PNPLA6 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for PNPLA6 gene from 7/24 species (see all 24) About this table
ENSEMBL Gene Tree for PNPLA6 (if available)
TreeFam Gene Tree for PNPLA6 (if available) |
Paralogs
for PNPLA6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PNPLA6 gene
- PNPLA72
1 SIMAP similar gene for PNPLA6 using alignment to 10 protein entries: PLPL6_HUMAN (see all proteins):PNPLA7
PNPLA6 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for PNPLA6
PGOHUM00000234475
|
Genomic Variants
for PNPLA6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PNPLA6 (7599038 - 7626653 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PNPLA6
1 CNV: 8863
Human Gene Mutation Database (HGMD): PNPLA6
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNPLA6 |
|
Disorders
/ Diseases
for PNPLA6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PNPLA6 for disorders About GeneDecksing
OMIM gene information: 603197
OMIM disorders: 612020
UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17
Defects in PNPLA6 are the cause of spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]; alsoknown as NTE-related motor neuron disorder (NTEMND). Spastic paraplegia is a neurodegenerative disorder characterizedby a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity ofsymptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs,muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such asincontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associatedwith a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lowerextremity muscles
14  diseases for PNPLA6: About MalaCardsspastic paraplegia paraplegia spasticity spastic paraplegia 39
neurodegeneration neuropathy neuronitis toxic encephalopathy
motor neuron disease polyneuropathy ataxia neuroblastoma
tuberculosis mycobacterium tuberculosis
3 diseases from the University of Copenhagen DISEASES database for PNPLA6:Polyneuropathy Neuropathy Toxic encephalopathy 7 Novoseek disease relationships for PNPLA6 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| polyneuropathy |
81 |
44 |
8211998 (2), 7974486 (2), 8921348 (2), 8597094 (2) (see all 23) |
| poisoning |
47.3 |
8 |
10447555 (2), 8523492 (1), 8605290 (1), 8258630 (1) (see all 6) |
| paralysis |
45.3 |
8 |
8128641 (1), 17555296 (1), 2018554 (1), 16137924 (1) (see all 5) |
| intoxication |
25.6 |
5 |
8588945 (1), 8128641 (1), 19914363 (1) |
| neuropathology |
5.66 |
3 |
1956582 (1), 8343999 (1) |
| neurological disorders |
0 |
1 |
17555296 (1) |
| myopathy |
0 |
1 |
8588945 (1) |
Human Genome Epidemiology (HuGE) Navigator: PNPLA6 (1 document)
Export disorders for PNPLA6 gene to outside databases
|
Publications
for PNPLA6 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for PNPLA6 gene, integrated from 9 sources (see all 189):
(articles sorted by number of sources associating them with PNPLA6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man. (PubMed id 9576844)1, 2, 3, 9 Lush M.J.... Glynn P. (1998)
- Neuropathy target esterase gene mutations cause motor neuron disease. (PubMed id 18313024)1, 2, 9 Rainier S.... Fink J.K. (2008)
- Mammalian patatin domain containing proteins: a famil y with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 3 Kienesberger P.C....Zechner R. (2009)
- Characterization of the human patatin-like phospholipase family. (PubMed id 16799181)1, 3 Wilson P.A.... Crowther D.J. (2006)
- Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. (PubMed id 15044461)1, 2 Zaccheo O.... Glynn P. (2004)
- Degradation of neuropathy target esterase by the macroautophagic lysosomal pathway. (PubMed id 19059269)1, 9 Long D.X....Wu Y.J. (2009)
- Inhibition of neuropathy target esterase expressing by antisense RNA does not affect neural differentiation in human neuroblastoma (SK-N-SH) cell line. (PubMed id 16010971)1, 9 Chang P.A....Qin Q.L. (2005)
- Neural development and neurodegeneration: two faces of neuropathy target esterase. (PubMed id 10759065)1, 9 Glynn P. (2000)
- Down-regulation of neuropathy target esterase by protein kinase C activation with PMA stimulation. (PubMed id 17385009)1, 9 Chen R....Wu Y.J. (2007)
- Effect of over-expression of neuropathy target esterase on mammalian cell proliferation. (PubMed id 16987144)1, 9 Chang P.A....Wu Y.J. (2006)
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External Searches for PNPLA6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PNPLA6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PNPLA6 gene
(According to HUGE)
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Specialized Databases showing PNPLA6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for PNPLA6 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for PNPLA6 gene:
Search GeneIP for patents involving PNPLA6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for PNPLA6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PNPLA6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNPLA6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNPLA6 | | | OriGene Protein Over-expression Lysate for PNPLA6 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PNPLA6 | | OriGene 3'-UTR Clone for PNPLA6 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA6 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPLA6 |
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