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Aliases for PNPLA8 Gene

Aliases for PNPLA8 Gene

  • Patatin Like Phospholipase Domain Containing 8 2 3 5
  • Intracellular Membrane-Associated Calcium-Independent Phospholipase A2 Gamma 3 4
  • PNPLA-Gamma 3 4
  • IPLA2-2 3 4
  • IPLA2G 3 4
  • Membrane-Associated Calcium-Independent Phospholipase A2 Gamma 3
  • Patatin-Like Phospholipase Domain-Containing Protein 8 4
  • Patatin-Like Phospholipase Domain Containing 8 2
  • Calcium-Independent Phospholipase A2-Gamma 3
  • IPLA2-Gamma 4
  • IPLA2gamma 3
  • EC 3.1.1.5 4
  • 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 Weaver Syndrome. Among its related pathways are Metabolism and Acyl chain remodelling of PE. Gene Ontology (GO) annotations related to this gene include binding and calcium-independent phospholipase A2 activity. An important paralog of this gene is PLA2G6.

UniProtKB/Swiss-Prot for PNPLA8 Gene

  • Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.

Gene Wiki entry for PNPLA8 Gene

Additional gene information for PNPLA8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA8 Gene

Genomics for PNPLA8 Gene

GeneHancer (GH) Regulatory Elements for PNPLA8 Gene

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
GH07I108523 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 578 +43.8 43754 5.4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 PNPLA8 THAP5 ENSG00000272854 DNAJB9 ENSG00000273055 RPL7P32 GC07M108510 GC07P108537
GH07I108567 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558 -0.2 -171 4.5 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 SP3 NFYC THAP5 PNPLA8 DNAJB9 ENSG00000272854 CBLL1 LOC105375448
GH07I108518 Promoter 0.5 EPDnew 562 +52.6 52604 0.1 PNPLA8 DNAJB9 THAP5 GC07M108510 GC07P108537
GH07I108413 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +154.1 154052 3.9 SIN3A MZF1 BMI1 BATF ZNF335 RCOR1 IKZF2 RUNX3 SMARCA5 CBFB THAP5 PNPLA8 NRCAM DNAJB9 GC07M108348
GH07I108452 Enhancer 0.8 ENCODE dbSUPER 20 +116.9 116948 0.5 CTCF ZNF189 REST RAD21 ZSCAN21 ZNF143 HMBOX1 SMC3 ZNF24 RUNX3 THAP5 PNPLA8 DNAJB9 NRCAM GC07M108348
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PNPLA8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNPLA8 gene promoter:

Genomic Locations for PNPLA8 Gene

Genomic Locations for PNPLA8 Gene
chr7:108,470,422-108,569,666
(GRCh38/hg38)
Size:
99,245 bases
Orientation:
Minus strand
chr7:108,110,866-108,210,110
(GRCh37/hg19)

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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92090.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PNPLA8 Gene

Function for PNPLA8 Gene

Molecular function for PNPLA8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.0.;
UniProtKB/Swiss-Prot CatalyticActivity:
2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by E-6-bromomethylene-3-1-naphthalenyl-2H-tetrahydropyran-2-one (BEL).
UniProtKB/Swiss-Prot Function:
Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.

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:0004622 lysophospholipase activity IEA --
GO:0004623 phospholipase A2 activity TAS --
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

CRISPR Products

miRNA for PNPLA8 Gene

miRTarBase miRNAs that target PNPLA8

Inhibitory RNA Products

Clone Products

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. Golgi apparatus membrane; Single-pass membrane protein. Cytoplasm, perinuclear region.

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 5
golgi apparatus 4
mitochondrion 3
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2

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:0005622 intracellular IDA 10744668
GO:0005737 cytoplasm IEA --
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

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:0008152 metabolic process IEA --
GO:0008219 cell death IDA 15695510
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, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
arachidonic acid Experimental Nutra Activator 33

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
Pentadecanoic acid
  • N-Pentadecanoate
  • N-Pentadecanoic acid
  • N-Pentadecylate
  • N-Pentadecylic acid
  • Pentadecanoate
1002-84-2
genes like me logo Genes that share compounds with PNPLA8: view

Transcripts for PNPLA8 Gene

Unigene Clusters for PNPLA8 Gene

Patatin-like phospholipase domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
PNPLA8

Expression for PNPLA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PNPLA8 Gene



NURSA nuclear receptor signaling pathways regulating expression of PNPLA8 Gene:

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(2.4)

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

Primer Products

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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia PNPLA8 33 34
  • 90.41 (n)
cow
(Bos Taurus)
Mammalia PNPLA8 33 34
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Pnpla8 33
  • 85.55 (n)
mouse
(Mus musculus)
Mammalia Pnpla8 33 16 34
  • 85.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PNPLA8 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA8 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA8 33 34
  • 68.69 (n)
lizard
(Anolis carolinensis)
Reptilia PNPLA8 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla8 33
  • 63.08 (n)
Str.12159 33
zebrafish
(Danio rerio)
Actinopterygii pnpla8 33 34
  • 59.08 (n)
Dr.22288 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009956 33
  • 46.33 (n)
worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.4 33 34
  • 49.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
-- 34
  • 30 (a)
OneToMany
Species where no ortholog for PNPLA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PNPLA8 Gene

Paralogs for PNPLA8 Gene

Pseudogenes.org Pseudogenes for PNPLA8 Gene

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

Variants for PNPLA8 Gene

Sequence variations from dbSNP and Humsavar for PNPLA8 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs774184465 pathogenic, uncertain-significance, Mitochondrial myopathy with lactic acidosis, not specified 108,472,474(-) AGAG/AG coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs786205882 pathogenic, Mitochondrial myopathy with lactic acidosis 108,514,855(-) AATTAAT/AAT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs768181060 uncertain-significance, not specified 108,515,073(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1000014467 -- 108,488,010(-) T/C intron_variant
rs1000033866 -- 108,471,332(-) A/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

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

- 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
genes like me logo Genes that share disorders with PNPLA8: view

No data available for Genatlas for PNPLA8 Gene

Publications for PNPLA8 Gene

  1. 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 22 58
  2. 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 58
  3. 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 58
  4. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. (PMID: 25512002) Saunders CJ … Gross RW (Human mutation 2015) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PNPLA8 Gene

Sources for PNPLA8 Gene

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