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Aliases for PNPLA8 Gene

Aliases for PNPLA8 Gene

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

External Ids for PNPLA8 Gene

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. A pseudogene of this gene is located on the X chromosome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for PNPLA8 Gene

PNPLA8 (Patatin-Like Phospholipase Domain Containing 8) is a Protein Coding gene. Diseases associated with PNPLA8 include weaver syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include lysophospholipase activity 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

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

Genomics for PNPLA8 Gene

Genomic Location for PNPLA8 Gene

Start:
108,470,422 bp from pter
End:
108,569,666 bp from pter
Size:
99,245 bases
Orientation:
Minus strand

Genomic View for PNPLA8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PNPLA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA8 Gene

Regulatory Elements 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; Evidence={ECO:0000305}; Sequence=BAA92090.1; Type=Erroneous initiation; 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

Proteomics data for PNPLA8 Gene at MOPED

Post-translational modifications for PNPLA8 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn4 and Asn361

No data available for DME Specific Peptides for PNPLA8 Gene

Domains for PNPLA8 Gene

Gene Families for PNPLA8 Gene

HGNC:
  • PNPLA :Patatin-like phospholipase domain containing

Protein Domains for PNPLA8 Gene

UniProtKB/Swiss-Prot:

PLPL8_HUMAN
Domain:
  • Contains 1 patatin domain.:
    • Q9NP80
genes like me logo Genes that share domains with PNPLA8: view

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

Gene Ontology (GO) - Molecular Function for PNPLA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IEA --
GO:0005488 binding --
GO:0005524 ATP binding NAS 10744668
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

Animal Models for PNPLA8 Gene

MGI Knock Outs for PNPLA8:

miRNA for PNPLA8 Gene

miRTarBase miRNAs that target PNPLA8

No data available for Transcription Factor Targeting 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
Jensen Localization Image for PNPLA8 Gene COMPARTMENTS Subcellular localization image for PNPLA8 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
peroxisome 5
mitochondrion 2
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

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:0005777 peroxisome IDA 15695510
GO:0005778 peroxisomal membrane IDA 10744668
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PNPLA8: view

Pathways for PNPLA8 Gene

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

Pathways by source for PNPLA8 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for PNPLA8 Gene
2 BioSystems pathways for PNPLA8 Gene

Interacting Proteins 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 --
GO:0006631 fatty acid metabolic process IDA 10744668
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with PNPLA8: view

Compounds for PNPLA8 Gene

(11) HMDB Compounds for PNPLA8 Gene

Compound Synonyms Cas Number PubMed IDs
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
Calcium
  • Ca
7440-70-2
Glycerophosphocholine
  • 2-[[(2,3-dihydroxypropoxy)hydroxyphosphinyl]oxy]-N,N,N-trimethyl-Ethanaminium inner salt
28319-77-9
Heptadecanoic acid
  • Heptadecanoate
506-12-7

(5) Novoseek inferred chemical compound relationships for PNPLA8 Gene

Compound -log(P) Hits PubMed IDs
plasmenylcholine 89 1
bromoenol lactone 88.7 3
arachidonic acid 54.3 7
phospholipid 38.3 1
lipid 26.6 6
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:

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 for PNPLA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNPLA8 Gene

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.
genes like me logo Genes that share expressions with PNPLA8: view

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 36
  • 99.7 (n)
  • 99.62 (a)
PNPLA8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNPLA8 36
  • 90.31 (n)
  • 88.86 (a)
PNPLA8 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA8 36
  • 90.41 (n)
  • 89.9 (a)
PNPLA8 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla8 36
  • 85.33 (n)
  • 83.23 (a)
Pnpla8 16
Pnpla8 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPLA8 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA8 37
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla8 36
  • 85.55 (n)
  • 83.48 (a)
chicken
(Gallus gallus)
Aves PNPLA8 36
  • 68.69 (n)
  • 62.87 (a)
PNPLA8 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA8 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla8 36
  • 63.08 (n)
  • 58.96 (a)
Str.12159 36
zebrafish
(Danio rerio)
Actinopterygii Dr.22288 36
pnpla8 36
  • 59.08 (n)
  • 58.53 (a)
pnpla8 37
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009956 36
  • 46.33 (n)
  • 41.75 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.4 36
  • 49.17 (n)
  • 38.66 (a)
Y73B6BL.4 37
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToMany
-- 37
  • 39 (a)
OneToMany
Species with no ortholog for PNPLA8:
  • 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 Sequence Context AA Info Type MAF
rs40843 -- 108,491,968(+) AATGT(C/T)ATCAA intron-variant
rs40844 -- 108,492,522(+) GTTTT(A/C)TCAAA intron-variant
rs40845 -- 108,494,179(+) TTACC(C/T)ACCTT intron-variant
rs40846 -- 108,494,675(+) CACAT(A/G)AGTGC intron-variant
rs40847 -- 108,495,655(+) CTACT(A/G)ATata intron-variant

Relevant External Links for PNPLA8 Gene

HapMap Linkage Disequilibrium report
PNPLA8
Human Gene Mutation Database (HGMD)
PNPLA8

No data available for Structural Variations from Database of Genomic Variants (DGV) for PNPLA8 Gene

Disorders for PNPLA8 Gene

(1) MalaCards Diseases for PNPLA8 Gene

Search for PNPLA8 Gene in MalaCards »

(1) University of Copenhagen DISEASES for PNPLA8 Gene

Relevant External Links for PNPLA8

Genetic Association Database (GAD)
PNPLA8
Human Genome Epidemiology (HuGE) Navigator
PNPLA8
genes like me logo Genes that share disorders with PNPLA8: view

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

Publications for PNPLA8 Gene

  1. The genomic organization, complete mRNA sequence, cloning, and expression of a novel human intracellular membrane-associated calcium- independent phospholipase A(2). (PMID: 10744668) Mancuso D.J. … Gross R.W. (J. Biol. Chem. 2000) 2 3 4
  2. A novel intracellular membrane-bound calcium-independent phospholipase A(2). (PMID: 10833412) Tanaka H. … Sumimoto H. (Biochem. Biophys. Res. Commun. 2000) 2 3 4
  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. (J. Biol. Chem. 2005) 3 4 23
  4. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson P.A. … Crowther D.J. (J. Lipid Res. 2006) 2 3
  5. Identification and distribution of endoplasmic reticulum iPLA2. (PMID: 15629460) Kinsey G.R. … Schnellmann R.G. (Biochem. Biophys. Res. Commun. 2005) 4 23

Products for PNPLA8 Gene

Sources for PNPLA8 Gene

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