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    PNPLA2 patatin like phospholipase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 57104, updated on 27-Nov-2017
    Official Symbol
    PNPLA2provided by HGNC
    Official Full Name
    patatin like phospholipase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30802
    See related
    Ensembl:ENSG00000177666 MIM:609059; Vega:OTTHUMG00000133309
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik
    Summary
    This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
    Expression
    Biased expression in fat (RPKM 355.9), bone marrow (RPKM 27.0) and 7 other tissues See more
    Orthologs
    Location:
    11p15.5
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (818895..825573)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (818901..825573)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene p53-induced death domain protein 1 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene calcium release activated channel regulator 2B Neighboring gene CD151 molecule (Raph blood group) Neighboring gene RNA polymerase II subunit L

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp667M109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acylglycerol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    lipoprotein lipase activity TAS
    Traceable Author Statement
    more info
     
    triglyceride lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    triglyceride lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    triglyceride lipase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    acylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lipid particle organization IEA
    Inferred from Electronic Annotation
    more info
     
    lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of sequestering of triglyceride IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    patatin-like phospholipase domain-containing protein 2
    Names
    IPLA2-zeta
    TTS2.2
    adipose triglyceride lipase
    calcium-independent phospholipase A2
    desnutrin
    mutant patatin-like phospholipase domain containing 2
    pigment epithelium-derived factor
    transport-secretion protein 2.2
    triglyceride hydrolase
    NP_065109.1
    XP_006718328.1
    XP_006718329.1
    XP_016873517.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023394.1 RefSeqGene

      Range
      5001..11673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020376.3NP_065109.1  patatin-like phospholipase domain-containing protein 2

      See identical proteins and their annotated locations for NP_065109.1

      Status: REVIEWED

      Source sequence(s)
      AP006621, BC011958, BC017280
      Consensus CDS
      CCDS7718.1
      UniProtKB/Swiss-Prot
      Q96AD5
      Related
      ENSP00000337701.4, OTTHUMP00000164432, ENST00000336615.8, OTTHUMT00000257106
      Conserved Domains (1) summary
      cd07220
      Location:4252
      Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      818895..825573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718265.3XP_006718328.1  patatin-like phospholipase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006718328.1

      Conserved Domains (1) summary
      cd07220
      Location:4252
      Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
    2. XM_006718266.3XP_006718329.1  patatin-like phospholipase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006718329.1

      Conserved Domains (1) summary
      cd07220
      Location:4252
      Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
    3. XM_017018028.1XP_016873517.1  patatin-like phospholipase domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q96AD5
      Conserved Domains (1) summary
      cd07220
      Location:4252
      Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      817799..824534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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