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Aliases for PNPLA4 Gene

Aliases for PNPLA4 Gene

  • Patatin Like Phospholipase Domain Containing 4 2 3 5
  • DXS1283E 3 4
  • GS2 3 4
  • Patatin-Like Phospholipase Domain-Containing Protein 4 3
  • Patatin-Like Phospholipase Domain Containing 4 2
  • Calcium Independent Phospholipases A2 Eta 3
  • Protein GS2 4
  • EC 4
  • IPLA2 Eta 3
  • IPLA2eta 3

External Ids for PNPLA4 Gene

Previous GeneCards Identifiers for PNPLA4 Gene

  • GC0XM007676
  • GC0XM005673

Summaries for PNPLA4 Gene

Entrez Gene Summary for PNPLA4 Gene

  • This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]

GeneCards Summary for PNPLA4 Gene

PNPLA4 (Patatin Like Phospholipase Domain Containing 4) is a Protein Coding gene. Diseases associated with PNPLA4 include Orofaciodigital Syndrome Viii and Mitochondrial Disorders. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA2.

UniProtKB/Swiss-Prot for PNPLA4 Gene

  • Lipid hydrolase.

Additional gene information for PNPLA4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA4 Gene

Genomics for PNPLA4 Gene

Regulatory Elements for PNPLA4 Gene

Enhancers for PNPLA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH007926 1 ENCODE 22.5 +1.2 1169 1.9 PKNOX1 ATF1 ZFP64 SIN3A BRCA1 YY1 ZNF766 ELK1 ZNF143 ZNF207 PNPLA4 ENSG00000274923
GH0XH008846 0.7 dbSUPER 4 -921.1 -921101 6.1 CTCF FOXA2 JUN MAX BRCA1 RAD21 GTF3C2 NR2F6 ELK4 GATAD2A ANOS1 PNPLA4 LOC100128808 FAM9A
GH0XH007514 0.5 ENCODE 4.8 +413.0 413020 1.6 HLF MLLT1 NR2C2 PNPLA4 ENSG00000279682 GC0XP007552
GH0XH008856 0.2 dbSUPER 4 -928.3 -928333 1.4 PNPLA4 LOC100128808 FAM9A
GH0XH007925 0.7 ENCODE 0.7 +2.5 2543 0.2 CTCF PKNOX1 TRIM22 REST RAD21 MAFF ZNF316 TARDBP SMC3 ZNF143 PNPLA4 ENSG00000274923
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PNPLA4 on UCSC Golden Path with GeneCards custom track

Promoters for PNPLA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244076 1087 1401 PKNOX1 ATF1 ZFP64 SIN3A BRCA1 YY1 ZNF766 ELK1 ZNF143 ZNF207

Genomic Locations for PNPLA4 Gene

Genomic Locations for PNPLA4 Gene
30,341 bases
Minus strand

Genomic View for PNPLA4 Gene

Genes around PNPLA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA4 Gene

Proteins for PNPLA4 Gene

  • Protein details for PNPLA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patatin-like phospholipase domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • A8K1H3
    • B4E362
    • Q8WW83

    Protein attributes for PNPLA4 Gene

    253 amino acids
    Molecular mass:
    27980 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PNPLA4 Gene


neXtProt entry for PNPLA4 Gene

Post-translational modifications for PNPLA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNPLA4 Gene

No data available for DME Specific Peptides for PNPLA4 Gene

Domains & Families for PNPLA4 Gene

Gene Families for PNPLA4 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PNPLA4 Gene

Suggested Antigen Peptide Sequences for PNPLA4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PNPLA4: view

No data available for UniProtKB/Swiss-Prot for PNPLA4 Gene

Function for PNPLA4 Gene

Molecular function for PNPLA4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot Function:
Lipid hydrolase.

Enzyme Numbers (IUBMB) for PNPLA4 Gene

Gene Ontology (GO) - Molecular Function for PNPLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity IBA,EXP --
GO:0016787 hydrolase activity IEA --
GO:0050253 retinyl-palmitate esterase activity EXP 16741517
genes like me logo Genes that share ontologies with PNPLA4: view
genes like me logo Genes that share phenotypes with PNPLA4: view

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNPLA4 Gene

Localization for PNPLA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA4 Gene


Subcellular locations from

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 PNPLA4 gene
Compartment Confidence
mitochondrion 5
cytosol 5
extracellular 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PNPLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA,IDA 26741492
GO:0005811 lipid particle IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with PNPLA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PNPLA4 Gene

Pathways & Interactions for PNPLA4 Gene

genes like me logo Genes that share pathways with PNPLA4: view

Pathways by source for PNPLA4 Gene

1 KEGG pathway for PNPLA4 Gene

Gene Ontology (GO) - Biological Process for PNPLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0019433 triglyceride catabolic process IBA,TAS --
genes like me logo Genes that share ontologies with PNPLA4: view

No data available for SIGNOR curated interactions for PNPLA4 Gene

Drugs & Compounds for PNPLA4 Gene

(7) Drugs for PNPLA4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Myristic acid Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0

(12) Additional Compounds for PNPLA4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with PNPLA4: view

Transcripts for PNPLA4 Gene

Unigene Clusters for PNPLA4 Gene

Patatin-like phospholipase domain containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: -

Relevant External Links for PNPLA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PNPLA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNPLA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PNPLA4 Gene

This gene is overexpressed in Fetal heart (20.7), Fetal testis (19.3), Ovary (16.0), and Islet of Langerhans (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PNPLA4 Gene

Protein tissue co-expression partners for PNPLA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PNPLA4 Gene:


SOURCE GeneReport for Unigene cluster for PNPLA4 Gene:


mRNA Expression by UniProt/SwissProt for PNPLA4 Gene:

Tissue specificity: Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen.

Evidence on tissue expression from TISSUES for PNPLA4 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with PNPLA4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA4 Gene

Orthologs for PNPLA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PNPLA4 33 34
  • 99.6 (n)
(Canis familiaris)
Mammalia PNPLA4 33 34
  • 87.35 (n)
(Bos Taurus)
Mammalia LOC785567 33
  • 81.35 (n)
  • 80 (a)
(Monodelphis domestica)
Mammalia PNPLA4 34
  • 75 (a)
(Rattus norvegicus)
Mammalia RGD1562200 33
  • 66.13 (n)
(Gallus gallus)
Aves PNPLA4 33 34
  • 73.78 (n)
(Anolis carolinensis)
Reptilia PNPLA4 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla4 33
  • 67.19 (n)
(Danio rerio)
Actinopterygii pnpla4 33 34
  • 63.73 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7294 33
(Caenorhabditis elegans)
Secernentea CELE_D1054.1 33
  • 50.35 (n)
D1054.1 34
  • 38 (a)
B0524.2 34
  • 30 (a)
Species where no ortholog for PNPLA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PNPLA4 Gene

Gene Tree for PNPLA4 (if available)
Gene Tree for PNPLA4 (if available)

Paralogs for PNPLA4 Gene

Paralogs for PNPLA4 Gene

(4) SIMAP similar genes for PNPLA4 Gene using alignment to 2 proteins: Pseudogenes for PNPLA4 Gene

genes like me logo Genes that share paralogs with PNPLA4: view

Variants for PNPLA4 Gene

Sequence variations from dbSNP and Humsavar for PNPLA4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs863223374 Uncertain significance 7,922,055(-) CAGAA(A/G)GCAGT reference, missense, utr-variant-5-prime
rs1000010335 -- 7,900,315(+) AGTCA(C/T)GGAAA utr-variant-3-prime
rs1000082826 -- 7,909,346(+) CGAGG(A/T)CAGGA intron-variant
rs1000212567 -- 7,926,187(+) CATAC(C/T)GTGTA intron-variant, upstream-variant-2KB
rs1000556476 -- 7,906,740(+) AGGAA(A/G)TAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNPLA4 Gene

Variant ID Type Subtype PubMed ID
nsv6786 CNV insertion 18451855
nsv470340 CNV gain 18288195
esv3576759 CNV gain 25503493
esv3576758 CNV gain 25503493
esv2752336 CNV loss 17911159
esv2752335 CNV gain 17911159
esv2422194 CNV duplication 17116639
dgv499n21 CNV gain 19592680
dgv1n30 CNV gain 18288195

Variation tolerance for PNPLA4 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNPLA4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA4 Gene

Disorders for PNPLA4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PNPLA4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome viii
  • edwards syndrome
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards


  • Note=Defects in PNPLA4 may play a role in mitochondrial disorders characterized by complex IV deficiency. {ECO:0000269 PubMed:26741492}.

Relevant External Links for PNPLA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PNPLA4: view

No data available for Genatlas for PNPLA4 Gene

Publications for PNPLA4 Gene

  1. Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3. (PMID: 7806223) Lee WC … Yen PH (Genomics 1994) 2 3 4 22 60
  2. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. (PMID: 26741492) Kohda M … Okazaki Y (PLoS genetics 2016) 3 4 60
  3. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger PC … Zechner R (Journal of lipid research 2009) 2 3 60
  4. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson LE … Ridderstråle M (PloS one 2009) 3 45 60
  5. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson PA … Crowther DJ (Journal of lipid research 2006) 2 3 60

Products for PNPLA4 Gene

Sources for PNPLA4 Gene

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