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Aliases for PNPLA4 Gene

Aliases for PNPLA4 Gene

  • Patatin Like Phospholipase Domain Containing 4 2 3 5
  • Patatin-Like Phospholipase Domain Containing 4 2 3
  • DXS1283E 3 4
  • GS2 3 4
  • Calcium Independent Phospholipases A2 Eta 3
  • Protein GS2 4
  • EC 3.1.1.3 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 Griscelli Syndrome, Type 2. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism of xenobiotics by cytochrome P450. 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.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PNPLA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for PNPLA4 Gene

Chromosome:
X
Start:
7,898,247 bp from pter
End:
7,928,587 bp from pter
Size:
30,341 bases
Orientation:
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:
    P41247-PLPL4_HUMAN
    Recommended name:
    Patatin-like phospholipase domain-containing protein 4
    Protein Accession:
    P41247
    Secondary Accessions:
    • A8K1H3
    • B4E362
    • Q8WW83

    Protein attributes for PNPLA4 Gene

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

    Alternative splice isoforms for PNPLA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA4 Gene

Proteomics data for PNPLA4 Gene at MOPED

Post-translational modifications for PNPLA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNPLA4 Gene

Antibody Products

No data available for DME Specific Peptides for PNPLA4 Gene

Domains & Families for PNPLA4 Gene

Gene Families for PNPLA4 Gene

Protein Domains for PNPLA4 Gene

Suggested Antigen Peptide Sequences for PNPLA4 Gene

Graphical View of Domain Structure for InterPro Entry

P41247

UniProtKB/Swiss-Prot:

PLPL4_HUMAN :
  • Contains 1 patatin domain.
Domain:
  • Contains 1 patatin domain.
genes like me logo Genes that share domains with PNPLA4: view

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

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

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNPLA4 Gene

Localization for PNPLA4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNPLA4 Gene COMPARTMENTS Subcellular localization image for PNPLA4 gene
Compartment Confidence
cytosol 2
extracellular 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

Interacting Proteins for PNPLA4 Gene

Gene Ontology (GO) - Biological Process for PNPLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0044255 cellular lipid metabolic process 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

(5) Drugs for PNPLA4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0
arachidonic acid Experimental Nutra Activator 27

(13) 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
506-30-9
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-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
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:

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
PNPLA4
ECgene alternative splicing isoforms for
PNPLA4

Expression for PNPLA4 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PNPLA4 Gene



SOURCE GeneReport for Unigene cluster for PNPLA4 Gene Hs.264

mRNA Expression by UniProt/SwissProt for PNPLA4 Gene

P41247-PLPL4_HUMAN
Tissue specificity: Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen.
genes like me logo Genes that share expression patterns with PNPLA4: view

Protein tissue co-expression partners for PNPLA4 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia LOC785567 35
  • 81.35 (n)
  • 81.75 (a)
PNPLA4 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA4 35
  • 87.35 (n)
  • 92.49 (a)
PNPLA4 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNPLA4 35
  • 99.6 (n)
  • 99.6 (a)
PNPLA4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562200 35
  • 66.13 (n)
  • 62.4 (a)
oppossum
(Monodelphis domestica)
Mammalia PNPLA4 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA4 35
  • 73.78 (n)
  • 76.68 (a)
PNPLA4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA4 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla4 35
  • 67.19 (n)
  • 67.19 (a)
zebrafish
(Danio rerio)
Actinopterygii pnpla4 35
  • 63.73 (n)
  • 64.71 (a)
pnpla4 36
  • 61 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7294 35
worm
(Caenorhabditis elegans)
Secernentea CELE_D1054.1 35
  • 50.35 (n)
  • 43.04 (a)
B0524.2 36
  • 30 (a)
OneToMany
D1054.1 36
  • 38 (a)
OneToMany
Species with no ortholog for PNPLA4:
  • 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

ENSEMBL:
Gene Tree for PNPLA4 (if available)
TreeFam:
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.org 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
rs17856615 - 7,925,977(+) AAGCA(A/C)CCAAC intron-variant, reference, missense
rs17851825 - 7,921,723(+) TGAGG(C/T)CCTCC reference, missense
rs2231793 - 7,902,059(-) TGGAC(A/G)ACTGG reference, missense
rs2231791 - 7,921,787(-) TGCAC(A/G)TATCC reference, missense
rs747727003 -- 7,925,288(+) AGTAC(A/G)TAATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422194 CNV Duplication 17116639
dgv499n21 CNV Gain 19592680
dgv1n30 CNV Gain 18288195
nsv470340 CNV Gain 18288195
esv2752335 CNV Gain 17911159
nsv6786 CNV Insertion 18451855
esv2752336 CNV Loss 17911159

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PNPLA4 Gene

Disorders for PNPLA4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PNPLA4 Gene - From: OMIM

Disorder Aliases PubMed IDs
griscelli syndrome, type 2
  • griscelli syndrome type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PNPLA4

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

No data available for UniProtKB/Swiss-Prot and 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 W.-C. … Yen P.H. (Genomics 1994) 2 3 4 23 67
  2. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger P.C. … Zechner R. (J. Lipid Res. 2009) 2 3
  3. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson P.A. … Crowther D.J. (J. Lipid Res. 2006) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. (PMID: 24104479) Vizeacoumar F.J. … Moffat J. (Mol. Syst. Biol. 2013) 3

Products for PNPLA4 Gene

Sources for PNPLA4 Gene

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