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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 triacylglycerol degradation and Metabolism. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for PNPLA4 Gene

Promoters and enhancers for PNPLA4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI007926 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 572.6 +1.2 1169 1.9 PKNOX1 ATF1 SMAD1 ZFP64 SIN3A BRCA1 YY1 POLR2B ZNF766 E2F8 PNPLA4 ENSG00000274923
GH0XI007928 Enhancer 0.2 FANTOM5 550.8 -0.3 -334 0.4 PNPLA4 VCX GC0XM007955
GH0XI008846 Enhancer 0.7 dbSUPER 4 -921.1 -921101 6.1 CTCF FOXA2 JUN MAX RAD21 BRCA1 GTF3C2 FOSL2 NR2F6 ELK4 ANOS1 PNPLA4 LOC100128808 FAM9A
GH0XI007514 Enhancer 0.5 ENCODE 4.8 +413.0 413019 1.6 HLF MLLT1 NR2C2 ZBTB17 PNPLA4 ENSG00000279682 GC0XP007552
GH0XI008856 Enhancer 0.2 dbSUPER 4 -928.3 -928333 1.4 LOC100128808 PNPLA4 FAM9A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PNPLA4 on UCSC Golden Path with GeneCards custom track

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

No Post-translational modifications

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):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • 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 --
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

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:0005739 mitochondrion IEA,IDA 26741492
GO:0005811 lipid droplet 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 TAS,IBA --
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
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Myristic 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-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
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 Variation AA Info Type
rs863223374 uncertain-significance, Abnormality of neuronal migration 7,922,055(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000010335 -- 7,900,315(-) C/T 3_prime_UTR_variant
rs1000082826 -- 7,909,346(-) T/A intron_variant
rs1000212567 -- 7,926,187(-) T/C intron_variant
rs1000556476 -- 7,906,740(-) A/G intron_variant

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

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

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)

Additional Variant Information 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
  • ofd8
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}.

Additional Disease Information for PNPLA4

Genetic Association Database
Human Genome Epidemiology 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 58
  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 58
  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 58
  4. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson LE … Ridderstråle M (PloS one 2009) 3 44 58
  5. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson PA … Crowther DJ (Journal of lipid research 2006) 2 3 58

Products for PNPLA4 Gene

Sources for PNPLA4 Gene

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