PNPLA2 Gene
protein-coding GIFtS: 59
GCID: GC11P000819
|
|
patatin-like phospholipase domain containing 2
| |
Aliases
for PNPLA2 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 21 2 | | EC 3.1.1.33 8 | | ATGL1 2 3 5 | | FP175481 | | TTS22 3 5 | | 1110001C14Rik2 | | TTS-2.21 2 | | PEDF-R2 | | Desnutrin3 | | Patatin-Like Phospholipase Domain Containing Protein 22 | | IPLA2zeta1 | | Patatin-Like Phospholipase Domain-Containing Protein 22 | | Adipose Triglyceride Lipase2 3 | | Transport-Secretion Protein 2.22 | | Calcium-Independent Phospholipase A22 3 | | Triglyceride Hydrolase2 | | Pigment Epithelium-Derived Factor2 3 | | Desnutrin3 | | IPLA2-Zeta1 | | Transport-Secretion Protein 23 | | TTS2.22 3 | | |
Export aliases for PNPLA2 gene to outside databasesPrevious GC identifers: GC11P000808 GC11P000634 |
Summaries
for PNPLA2 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 PNPLA2:
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue.Mutations in this gene are associated with neutral lipid storage disease with myopathy. (provided by RefSeq, Jul 2010)
UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5Function: Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also hasacylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulatesadiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis.May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providingfree fatty acids to other tissues to be oxidized in situations of energy depletion
Gene Wiki entry for PNPLA2
|
Genomic Views
for PNPLA2 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_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PNPLA2 gene promoter:
STAT1 Pax-5 p53 p300 MyoD STAT1beta AP-4 STAT1alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for PNPLA2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNPLA2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5PNPLA2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P000819: view genomic region
(about GC identifiers)
Start:
|
818,901 bp from pter |
End:
|
825,573 bp from pter |
Size:
|
6,673 bases |
Orientation:
|
plus strand |
|
Proteins
for PNPLA2 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: PLPL2_HUMAN, Q96AD5 (See
protein sequence)Recommended Name: Patatin-like phospholipase domain-containing protein 2 Size: 504 amino acids; 55316 Da
Subunit: Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity).Interacts with SERPINF1; interacts at one site of interaction. Despite a colocalization in lipid droplets, it probablydoes not interact with PLIN (By similarity)
Subcellular location: Lipid droplet. Cell membrane; Single-pass type II membrane protein
Developmental stage: Induced during differentiation of primary preadipocytes to adipocytes. Expression increased fromfetal to adult in retinal pigment epithelium
Sequence caution: Sequence=AAP34448.1; Type=Frameshift; Positions=501; Sequence=CAC01131.1; Type=Erroneous initiation;Sequence=CAC01132.1; Type=Erroneous initiation;
Secondary accessions: O60643 Q5EFF5 Q6XYE5 Q96ET6 Q9NQ61 Q9NQ62Alternative splicing: 2 isoforms: Q96AD5-1 Q96AD5-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PNPLA2: NX_Q96AD5
Post-translational modifications:
Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increaseslipolytic activity (By similarity). Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96AD5
4/6 DME Specific Peptides for PNPLA2 (Q96AD5) (see all 6)
PNPLA2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065109.1
ENSEMBL proteins: ENSP00000337701 Reactome Protein details: Q96AD5
Human Recombinant Protein Products for PNPLA2:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PNPLA2 for ontologies About GeneDecksing
PNPLA2 Antibody Products:
Assay Products for PNPLA2: |
Protein
Domains /
Families
for PNPLA2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PNPLA2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96AD5ProtoNet protein and cluster: Q96AD5 UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5Similarity: Contains 1 patatin domain |
Function
for PNPLA2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PLPL2_HUMAN, Q96AD5Function: Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also hasacylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulatesadiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis.May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providingfree fatty acids to other tissues to be oxidized in situations of energy depletionCatalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylateEnzyme regulation: Inhibited by BEL ((E)-6-(bromomethylene)-3-(1-naphthalenyl)-2H-tetrahydropyran-2-one), a suicidesubstrate inhibitor. No differences in enzymatic activity that uses (1,2-dilinoleoyl)-phosphatidylcholine as substratewas detected in the presence or absence of ATP. Activated by ABHD5 and SERPINF1Biophysicochemical properties: pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine assubstrate; Enzyme Number (IUBMB): EC 3.1.1.31 2
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004806 | triglyceride lipase activity |
ISS | -- | | GO:0050253 | retinyl-palmitate esterase activity |
IEA | -- |
PNPLA2 for ontologies About GeneDecksing
Phenotypes:
11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Pnpla2):
PNPLA2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Pnpla2tm1Rze for PNPLA2
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 PNPLA2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA2 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PNPLA2 (NM_020376) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPLA2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPLA2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA2 |
|
Pathways & Interactions
for PNPLA2 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 - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Glycerophospholipid biosynthesis | | | 2 | Metabolism | | | 3 | Glucose / Energy Metabolism | | | 4 | Acyl chain remodeling of DAG and TAG | | | 5 | Fatty Acid Beta Oxidation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for PNPLA2
3  BioSystems Pathways for PNPLA2
5 
Reactome Pathways for PNPLA2
UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5Pathway: Glycerolipid metabolism; triacylglycerol degradation
PNPLA2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PNPLA2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
5/9 Interacting proteins for PNPLA2 (Q96AD52, 3 ENSP000003377014) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0010891 | negative regulation of sequestering of triglyceride |
IDA | 16679289 | | GO:0010898 | positive regulation of triglyceride catabolic process |
IDA | 16679289 | | GO:0019433 | triglyceride catabolic process |
IEA | -- | | GO:0036155 | acylglycerol acyl-chain remodeling |
TAS | -- |
PNPLA2 for ontologies About GeneDecksing
|
Drugs & Compounds
for PNPLA2 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
|
PNPLA2 for compounds About GeneDecksing
 Browse Tocris compounds for PNPLA2
10/1141 HMDB Compounds for PNPLA2 (see all 1141) About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| TG(15:0/16:0/20:2(11Z,14Z))[iso6] | Tracylglycerol(15:0/16:0/20:2) (see all 15) | -- | 12486725 | | TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6] | TAG(15:0/16:0/20:3n6) (see all 16) | -- | 12486725 | | TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6] | TAG(15:0/16:0/20:4n6) (see all 15) | -- | 12486725 | | TG(15:0/18:0/18:2(9Z,12Z))[iso6] | TG(15:0/18:0/18:2w6) (see all 15) | -- | 12486725 | | TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6] | TAG(51:3) (see all 16) | -- | 12486725 | | TG(15:0/18:1(9Z)/16:0)[iso6] | Tracylglycerol(15:0/18:1w9/16:0) (see all 15) | -- | 12486725 | | TG(15:0/18:1(9Z)/16:1(9Z))[iso6] | TG(15:0/18:1/16:1) (see all 15) | -- | 12486725 | | TG(15:0/18:1(9Z)/18:1(9Z))[iso3] | TG(15:0/18:1n9/18:1n9) (see all 15) | -- | 12486725 | | TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6] | Tracylglycerol(15:0/18:1/18:2) (see all 15) | -- | 12486725 | | TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6] | Tracylglycerol(15:0/18:1/18:3) (see all 16) | -- | 12486725 |
7 Novoseek chemical compound relationships for PNPLA2 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| triacylglycerol |
78.8 |
48 |
19692632 (4), 18357681 (2), 20197052 (2), 18952573 (2) (see all 15) |
| monoacylglycerol |
67.3 |
7 |
15971411 (1), 18952573 (1), 18288265 (1), 17032652 (1) |
| lipid |
60.4 |
82 |
18445677 (4), 17872589 (4), 18445597 (3), 19850935 (2) (see all 26) |
| fatty acid |
49.9 |
12 |
16467150 (1), 18980248 (1), 15356070 (1), 19423542 (1) (see all 7) |
| glycerol |
39.6 |
1 |
20023287 (1) |
| catecholamine |
8.54 |
2 |
16644234 (1), 16249444 (1) |
| glucose |
3.2 |
3 |
18072017 (2), 19636223 (1) |
Search CenterWatch for drugs/clinical trials and news about PNPLA2 / PLPL2
|
Transcripts
for PNPLA2 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,
Sirion Biotech,
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 PNPLA2 gene: NM_020376.3 Unigene Cluster for PNPLA2: Patatin-like phospholipase domain containing 2 Hs.654697 [show with all ESTs]Unigene Representative Sequence: NM_0203766 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000336615(uc001lrt.3 uc009ycl.3) ENST00000525250 ENST00000534561
ENST00000531923 ENST00000529255 ENST00000526083
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPLA2 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PNPLA2 (NM_020376) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPLA2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPLA2 |
Additional cDNA sequence: AF055000.1 AJ278475.1 AJ278476.1 AK308435.1 AL833707.1 AY894804.1 BC011958.1 BC017280.2 HQ651812.1 17 DOTS entries: DT.100037372 DT.449874 DT.100817137 DT.120756475 DT.120756498 DT.120756512 DT.86847431 DT.95356981 DT.95098221 DT.95356987 DT.95356989 DT.95111992 DT.95356979 DT.120756472 DT.120756491 DT.120756505 DT.75151203 24/166 AceView cDNA sequences (see all 166): AI470237 BF590531 BF766056 BQ433256 AW137229 BE463415 AI075946 BU145220 BU931032 CA417432 BF849476 BU174057 AI056563 AI807133 BF569235 BC017280 BQ926469 NM_020376 BG677471 CD514399 BQ917362 BQ928246 CD721769 AI203639
GeneLoc Exon Structure
|
Expression
for PNPLA2 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
| PNPLA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATAAATGC
About this image
See PNPLA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PNPLA2
SOURCE GeneReport for Unigene cluster: Hs.654697
UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5Tissue specificity: Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of thegastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epitheliumand, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina(at protein level)
SABiosciences Custom PCR Arrays for PNPLA2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNPLA2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNPLA2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNPLA2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNPLA2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA2 |
Orthologs
for PNPLA2 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 common ancestor of eukaryotes.
Orthologs for PNPLA2 gene from 8/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
PNPLA21 |
patatin-like phospholipase domain containing 2 |
69.35(n)
71.3(a) |
|
431066 NM_001113291.1 NP_001106762.1 |
lizard
(Anolis carolinensis) |
Reptilia |
PNPLA26 |
-- |
70(a) |
1 ↔ 1 |
1(73687459-73733079) |
African clawed frog
(Xenopus laevis) |
Amphibia |
CA793811.12 |
-- |
74.72(n) |
|
CA793811.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
pnpla31 |
patatin-like phospholipase domain containing 3 |
61.48(n)
59.25(a) |
|
436610 NM_001002338.1 NP_001002338.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
dob6bmm6 |
brummer |
28(a)27(a) |
many ↔ manymany ↔ many |
X(14961036-14963124) 3L(14769596-14779512) |
worm
(Caenorhabditis elegans) |
Secernentea |
C05D11.71 |
Protein C05D11.7 |
44.97(n)
40.68(a) |
|
175910 NM_171168.4 NP_741196.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G332706 |
patatin-like phospholipase domain-containing prote... |
18(a) |
1 → many |
1(12068063-12070374) |
rice
(Oryza sativa) |
Liliopsida |
-- |
phospholipase, patatin family, putative, expressed... |
16(a) |
1 → many |
11(19678513-19681858) |
ENSEMBL Gene Tree for PNPLA2 (if available)
TreeFam Gene Tree for PNPLA2 (if available) |
Paralogs
for PNPLA2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PNPLA2 gene
- PNPLA42 PNPLA12 PNPLA52 PNPLA32
4 SIMAP similar genes for PNPLA2 using alignment to 2 protein entries: PLPL2_HUMAN (see all proteins):PNPLA1 PNPLA4 PNPLA3 PNPLA5
PNPLA2 for paralogs About GeneDecksing
|
Genomic Variants
for PNPLA2 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
|
UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5Polymorphism: Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, andfasting glucose concentrations
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PNPLA2 (818901 - 825573 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for PNPLA2
6 CNVs: 29886 30530 3831 29883 29885 4726
Human Gene Mutation Database (HGMD): PNPLA2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNPLA2 |
|
Disorders
/ Diseases
for PNPLA2 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
|
PNPLA2 for disorders About GeneDecksing
OMIM gene information: 609059
OMIM disorders: 610717
UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2 Defects in PNPLA2 are the cause of neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]; alsoknown as neutral lipid storage disease without ichthyosis. NSLDM is a neutral lipid storage disorder (NLSD) withmyopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmicdroplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did notshow obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage inliver, muscles, and other visceral cells
17  diseases for PNPLA2: About MalaCardsneutral lipid storage disease neutral lipid storage disease with myopathy lipid storage disease myopathy
familial combined hyperlipidemia polycystic ovary syndrome insulin resistance metabolic disorders
hyperlipidemia ichthyosis obesity, association with obesity
retinoblastoma retinitis hepatitis malaria
vesiculitis
2 diseases from the University of Copenhagen DISEASES database for PNPLA2:Neutral lipid storage disease Systemic primary carnitine deficiency disease 5 Novoseek disease relationships for PNPLA2 gene About this table
Human Genome Epidemiology (HuGE) Navigator: PNPLA2 (9 documents)
Export disorders for PNPLA2 gene to outside databases
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Publications
for PNPLA2 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)
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PubMed articles for PNPLA2 gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with PNPLA2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. (PubMed id 16239926)1, 2, 9 Smirnova E....Jackson C.L. (2006)
- The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. (PubMed id 16644682)1, 2, 9 Schoenborn V....Kronenberg F. (2006)
- The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (PubMed id 17187067)1, 2, 9 Fischer J.... Salvayre R. (2007)
- Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor. (PubMed id 17032652)1, 2, 9 Notari L.... Becerra S.P. (2006)
- 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)
- Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. (PubMed id 15364929)1, 2 Jenkins C.M.... Gross R.W. (2004)
- Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. (PubMed id 15550674)1, 2 Zimmermann R.... Zechner R. (2004)
- A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
- Human adipose triglyceride lipase (PNPLA2) is not regulated by obesity and exhibits low in vitro triglyceride hydrolase activity. (PubMed id 16752181)1, 9 Mairal A....Hoffstedt J. (2006)
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External Searches for PNPLA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing PNPLA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing PNPLA2 gene
(According to HUGE)
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Specialized Databases showing PNPLA2 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 PNPLA2 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for PNPLA2 gene:
Search GeneIP for patents involving PNPLA2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for PNPLA2 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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