This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple tra... See more...

Aliases for PNPLA8 Gene

Aliases for PNPLA8 Gene

  • Patatin Like Phospholipase Domain Containing 8 2 3 5
  • Calcium-Independent Phospholipase A2-Gamma 2 3 4
  • IPLA2-2 2 3 4
  • IPLA2G 2 3 4
  • Intracellular Membrane-Associated Calcium-Independent Phospholipase A2 Gamma 3 4
  • PNPLA-Gamma 3 4
  • IPLA2gamma 2 3
  • Membrane-Associated Calcium-Independent Phospholipase A2 Gamma 3
  • Patatin-Like Phospholipase Domain-Containing Protein 8 4
  • Patatin-Like Phospholipase Domain Containing 8 2
  • IPLA2-Gamma 4
  • EC 3.1.1.5 4
  • PNPLA8 5
  • IPLA22 4
  • MMLA 3

External Ids for PNPLA8 Gene

Previous GeneCards Identifiers for PNPLA8 Gene

  • GC07M107898
  • GC07M108110
  • GC07M102480

Summaries for PNPLA8 Gene

Entrez Gene Summary for PNPLA8 Gene

  • This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]

GeneCards Summary for PNPLA8 Gene

PNPLA8 (Patatin Like Phospholipase Domain Containing 8) is a Protein Coding gene. Diseases associated with PNPLA8 include Mitochondrial Myopathy With Lactic Acidosis and Mitochondrial Myopathy. Among its related pathways are Acyl chain remodelling of PE and Eicosanoid Synthesis. Gene Ontology (GO) annotations related to this gene include binding and calcium-independent phospholipase A2 activity.

UniProtKB/Swiss-Prot Summary for PNPLA8 Gene

  • Calcium-independent phospholipase A2, which promotes cellular membrane hydrolysis and prostaglandin production (PubMed:10744668, PubMed:15695510). Catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, phosphytidylserine and to a lower extent phosphatidylcholine (PubMed:10744668). Cleaves membrane phospholipids (PubMed:15695510). Participates in the generation of lipid second messengers through the mobilization of arachidonic acid in response to cellular stimuli. Synthesizes 2-arachidonoyl lysophosphatidylcholine, a key branch point metabolite in eicosanoid signaling (PubMed:15908428). Participates in the lipid plasticity of myocardium, plays a role in the generation of signaling metabolites and has a prominent effect on the modulaton of energy storage and utilization (PubMed:17213206). Essential for maintaining efficient bioenergetic mitochondrial function through tailoring mitochondrial membrane lipid metabolism and composition (By similarity).

Gene Wiki entry for PNPLA8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNPLA8 Gene

Genomics for PNPLA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNPLA8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J108523 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 628.1 +43.7 43690 5.3 SP1 CREB1 GATAD2A ATF7 TEAD4 REST ZNF629 LEF1 IKZF1 POLR2A PNPLA8 THAP5 ENSG00000272854 DNAJB9 RF00017-6562 lnc-THAP5-1 lnc-PNPLA8-2 NRCAM
GH07J108567 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.9 +0.1 65 5.2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 LEF1 ZNF692 THAP5 PNPLA8 DNAJB9 lnc-PNPLA8-2 RPL7P32 ENSG00000272854 LAMB1 ENSG00000273055 CBLL1 piR-31292-190
GH07J108413 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30 +151.2 151165 10.2 RNF2 CEBPG TEAD4 PRDM10 ZNF629 RFX1 JUND PRDM1 ZIC2 ZNF24 PNPLA8 THAP5 NRCAM DNAJB9 LAMB4 RF00017-6560
GH07J108452 Enhancer 0.9 Ensembl ENCODE dbSUPER 20 +117.7 117672 2 CTCF ZNF24 REST RAD21 HMBOX1 RUNX3 SMC3 ZNF189 JUN FOS THAP5 PNPLA8 DNAJB9 NRCAM RF00017-6560 LAMB4
GH07J108489 Enhancer 0.9 Ensembl ENCODE 15.3 +80.7 80665 1.6 IKZF1 JUND ZNF24 EP300 MGA CTBP1 NFE2 HDGF HDAC2 ZNF316 THAP5 PNPLA8 NRCAM piR-59133 piR-61532-301
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNPLA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNPLA8

Top Transcription factor binding sites by QIAGEN in the PNPLA8 gene promoter:
  • AP-4
  • C/EBPalpha
  • FOXO4
  • Ik-2
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4
  • Sox9
  • TBP
  • TFIID

Genomic Locations for PNPLA8 Gene

Genomic Locations for PNPLA8 Gene
chr7:108,470,417-108,569,666
(GRCh38/hg38)
Size:
99,250 bases
Orientation:
Minus strand
chr7:108,110,866-108,210,110
(GRCh37/hg19)
Size:
99,245 bases
Orientation:
Minus strand

Genomic View for PNPLA8 Gene

Genes around PNPLA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA8 Gene

Proteins for PNPLA8 Gene

  • Protein details for PNPLA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP80-PLPL8_HUMAN
    Recommended name:
    Calcium-independent phospholipase A2-gamma
    Protein Accession:
    Q9NP80
    Secondary Accessions:
    • A4D0S1
    • C9JZI4
    • O95035
    • Q8N3I3
    • Q9H7T5
    • Q9NR17
    • Q9NUN2
    • Q9NZ79

    Protein attributes for PNPLA8 Gene

    Size:
    782 amino acids
    Molecular mass:
    88477 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67630.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92090.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAL24384.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA8 Gene

Post-translational modifications for PNPLA8 Gene

  • Glycosylation at Asn4 and Asn361
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PNPLA8 Gene

Domains & Families for PNPLA8 Gene

Gene Families for PNPLA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PNPLA8 Gene

Suggested Antigen Peptide Sequences for PNPLA8 Gene

GenScript: Design optimal peptide antigens:
  • iPLA2-2 (PLPL8_HUMAN)
genes like me logo Genes that share domains with PNPLA8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PNPLA8 Gene

Function for PNPLA8 Gene

Molecular function for PNPLA8 Gene

UniProtKB/Swiss-Prot Function:
Calcium-independent phospholipase A2, which promotes cellular membrane hydrolysis and prostaglandin production (PubMed:10744668, PubMed:15695510). Catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, phosphytidylserine and to a lower extent phosphatidylcholine (PubMed:10744668). Cleaves membrane phospholipids (PubMed:15695510). Participates in the generation of lipid second messengers through the mobilization of arachidonic acid in response to cellular stimuli. Synthesizes 2-arachidonoyl lysophosphatidylcholine, a key branch point metabolite in eicosanoid signaling (PubMed:15908428). Participates in the lipid plasticity of myocardium, plays a role in the generation of signaling metabolites and has a prominent effect on the modulaton of energy storage and utilization (PubMed:17213206). Essential for maintaining efficient bioenergetic mitochondrial function through tailoring mitochondrial membrane lipid metabolism and composition (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:15177, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:28868, ChEBI:CHEBI:58168; EC=3.1.1.5; Evidence={ECO:0000305|PubMed:15695510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-acyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphoethanolamine + H2O = (9Z,12Z)-octadecadienoate + a 1-acyl-sn-glycero-3-phosphoethanolamine + H(+); Xref=Rhea:RHEA:40639, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:64381, ChEBI:CHEBI:75069; Evidence={ECO:0000269|PubMed:15695510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-acyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine + H2O = (9Z,12Z)-octadecadienoate + a 1-acyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40643, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:58168, ChEBI:CHEBI:60000; Evidence={ECO:0000269|PubMed:15695510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-acyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + a 1-acyl-sn-glycero-3-phosphoethanolamine + H(+); Xref=Rhea:RHEA:40647, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:64381, ChEBI:CHEBI:75067; Evidence={ECO:0000269|PubMed:15695510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + a 1-acyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40651, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:58168, ChEBI:CHEBI:75063; Evidence={ECO:0000269|PubMed:15695510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + H(+) + hexadecanoate; Xref=Rhea:RHEA:40571, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:73003, ChEBI:CHEBI:76079; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-(1Z)-hexadecenyl-2 (5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1-(1Z-hexadecenyl)-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40579, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:73850, ChEBI:CHEBI:77292; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:40435, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:72998; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)-octadecenoate + 1-octadecanoyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:40819, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:73858, ChEBI:CHEBI:75034; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H(+) + octadecanoate; Xref=Rhea:RHEA:40823, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:75034, ChEBI:CHEBI:76071; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine + H(+) + hexadecanoate; Xref=Rhea:RHEA:41063, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:74963, ChEBI:CHEBI:76085; Evidence={ECO:0000269|PubMed:15908428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:38779, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:72998, ChEBI:CHEBI:73001; Evidence={ECO:0000269|PubMed:17213206};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + H(+); Xref=Rhea:RHEA:40431, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:73004, ChEBI:CHEBI:73009; Evidence={ECO:0000269|PubMed:18171998};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.0.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by E-6-bromomethylene-3-1-naphthalenyl-2H-tetrahydropyran-2-one (BEL).

Enzyme Numbers (IUBMB) for PNPLA8 Gene

Phenotypes From GWAS Catalog for PNPLA8 Gene

Gene Ontology (GO) - Molecular Function for PNPLA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA 21873635
GO:0004622 lysophospholipase activity IEA --
GO:0005524 ATP binding NAS 10744668
GO:0016787 hydrolase activity IEA --
GO:0047499 calcium-independent phospholipase A2 activity IDA 10744668
genes like me logo Genes that share ontologies with PNPLA8: view
genes like me logo Genes that share phenotypes with PNPLA8: view

Human Phenotype Ontology for PNPLA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPLA8 Gene

MGI Knock Outs for PNPLA8:

Animal Model Products

  • Taconic Biosciences Mouse Models for PNPLA8

CRISPR Products

miRNA for PNPLA8 Gene

miRTarBase miRNAs that target PNPLA8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA8

No data available for Transcription Factor Targets and HOMER Transcription for PNPLA8 Gene

Localization for PNPLA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA8 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Microsome membrane. Single-pass membrane protein. Mitochondrion membrane. Single-pass membrane protein. Peroxisome membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA8 gene
Compartment Confidence
peroxisome 5
endoplasmic reticulum 4
golgi apparatus 4
mitochondrion 3
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion ISS --
GO:0005777 peroxisome IDA 15695510
GO:0005778 peroxisomal membrane IDA 10744668
genes like me logo Genes that share ontologies with PNPLA8: view

Pathways & Interactions for PNPLA8 Gene

genes like me logo Genes that share pathways with PNPLA8: view

Pathways by source for PNPLA8 Gene

1 GeneGo (Thomson Reuters) pathway for PNPLA8 Gene
  • Immune response CD16 signaling in NK cells

Interacting Proteins for PNPLA8 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000410804 Q9NP80-PLPL8_HUMAN for PNPLA8 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PNPLA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001516 prostaglandin biosynthetic process IDA 15695510
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IDA 10744668
GO:0008219 cell death IDA 15695510
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PNPLA8: view

No data available for SIGNOR curated interactions for PNPLA8 Gene

Drugs & Compounds for PNPLA8 Gene

(8) Drugs for PNPLA8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Agonist, Full agonist 27
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 40
Choline alfoscerate Experimental, Investigational Pharma 0

(8) Additional Compounds for PNPLA8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
Pentadecanoic acid
  • 15:00
  • C15
  • C15:0
  • N-Pentadecanoic acid
  • Pentadecylic acid
1002-84-2
genes like me logo Genes that share compounds with PNPLA8: view

Transcripts for PNPLA8 Gene

mRNA/cDNA for PNPLA8 Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA8

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: -
SP3: - - - - - - - -
SP4: - - -
SP5: - -
SP6: - -
SP7: - - -

Relevant External Links for PNPLA8 Gene

GeneLoc Exon Structure for
PNPLA8

Expression for PNPLA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNPLA8 Gene

Protein differential expression in normal tissues from HIPED for PNPLA8 Gene

This gene is overexpressed in Uterus (17.2) and Pancreatic juice (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNPLA8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNPLA8

SOURCE GeneReport for Unigene cluster for PNPLA8 Gene:

Hs.617340

mRNA Expression by UniProt/SwissProt for PNPLA8 Gene:

Q9NP80-PLPL8_HUMAN
Tissue specificity: Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart.

Evidence on tissue expression from TISSUES for PNPLA8 Gene

  • Nervous system(4.9)
  • Heart(4.5)
  • Bone marrow(4.3)
  • Muscle(2.7)
  • Liver(2.4)
  • Pancreas(2.4)
  • Kidney(2.3)
  • Eye(2.2)
  • Lung(2.1)
  • Adrenal gland(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PNPLA8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for PNPLA8 Gene

Orthologs for PNPLA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PNPLA8 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PNPLA8 30 31
  • 90.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PNPLA8 30 31
  • 90.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pnpla8 30
  • 85.55 (n)
Mouse
(Mus musculus)
Mammalia Pnpla8 30 17 31
  • 85.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PNPLA8 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA8 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PNPLA8 30 31
  • 68.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PNPLA8 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pnpla8 30
  • 63.08 (n)
Str.12159 30
Zebrafish
(Danio rerio)
Actinopterygii pnpla8 30 31
  • 59.08 (n)
OneToOne
Dr.22288 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009956 30
  • 46.33 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.4 30 31
  • 49.17 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
Species where no ortholog for PNPLA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PNPLA8 Gene

ENSEMBL:
Gene Tree for PNPLA8 (if available)
TreeFam:
Gene Tree for PNPLA8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNPLA8: view image

Paralogs for PNPLA8 Gene

Pseudogenes.org Pseudogenes for PNPLA8 Gene

genes like me logo Genes that share paralogs with PNPLA8: view

No data available for Paralogs for PNPLA8 Gene

Variants for PNPLA8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNPLA8 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
712682 Likely Benign: not provided 108,514,662(-) T/A MISSENSE_VARIANT
720811 Likely Benign: not provided 108,514,467(-) T/C MISSENSE_VARIANT
725678 Likely Benign: not provided 108,487,749(-) G/A INTRON_VARIANT
733449 Likely Benign: not provided 108,514,697(-) C/T SYNONYMOUS_VARIANT
735238 Likely Benign: not provided 108,514,469(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PNPLA8 Gene

Structural Variations from Database of Genomic Variants (DGV) for PNPLA8 Gene

Variant ID Type Subtype PubMed ID
nsv1110810 CNV insertion 24896259
nsv1148832 CNV deletion 26484159
nsv474571 CNV novel sequence insertion 20440878
nsv981569 CNV duplication 23825009

Variation tolerance for PNPLA8 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNPLA8 Gene

Human Gene Mutation Database (HGMD)
PNPLA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA8 Gene

Disorders for PNPLA8 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PNPLA8 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial myopathy with lactic acidosis
  • mmla
mitochondrial myopathy
  • mitochondrial cytopathy
lactic acidosis
  • acidosis lactic
weaver syndrome
  • wvs
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL8_HUMAN
  • Mitochondrial myopathy with lactic acidosis (MMLA) [MIM:251950]: An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness. {ECO:0000269 PubMed:25512002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PNPLA8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PNPLA8: view

No data available for Genatlas for PNPLA8 Gene

Publications for PNPLA8 Gene

  1. Dramatic accumulation of triglycerides and precipitation of cardiac hemodynamic dysfunction during brief caloric restriction in transgenic myocardium expressing human calcium-independent phospholipase A2gamma. (PMID: 17213206) Mancuso DJ … Gross RW (The Journal of biological chemistry 2007) 3 4 23
  2. The highly selective production of 2-arachidonoyl lysophosphatidylcholine catalyzed by purified calcium-independent phospholipase A2gamma: identification of a novel enzymatic mediator for the generation of a key branch point intermediate in eicosanoid signaling. (PMID: 15908428) Yan W … Gross RW (The Journal of biological chemistry 2005) 3 4 23
  3. Group VIB Ca2+-independent phospholipase A2gamma promotes cellular membrane hydrolysis and prostaglandin production in a manner distinct from other intracellular phospholipases A2. (PMID: 15695510) Murakami M … Kudo I (The Journal of biological chemistry 2005) 3 4 23
  4. The genomic organization, complete mRNA sequence, cloning, and expression of a novel human intracellular membrane-associated calcium-independent phospholipase A(2). (PMID: 10744668) Mancuso DJ … Gross RW (The Journal of biological chemistry 2000) 2 3 4
  5. A novel intracellular membrane-bound calcium-independent phospholipase A(2). (PMID: 10833412) Tanaka H … Sumimoto H (Biochemical and biophysical research communications 2000) 2 3 4

Products for PNPLA8 Gene

Sources for PNPLA8 Gene