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

    Gene ID: 57104, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See PNPLA2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (818914..825573)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (818914..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 Sharpr-MPRA regulatory region 11801 Neighboring gene calcium release activated channel regulator 2B Neighboring gene CD151 molecule (Raph blood group) Neighboring gene RNA polymerase II, I and III subunit L

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp667M109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acylglycerol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables lipoprotein lipase activity TAS
    Traceable Author Statement
    more info
     
    enables retinyl-palmitate esterase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables triglyceride lipase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables triglyceride lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables triglyceride lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables triglyceride lipase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in acylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    involved_in diacylglycerol biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipid droplet organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of sequestering of triglyceride IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

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    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
      5014..11673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020376.4NP_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, ENST00000336615.9
      Conserved Domains (1) summary
      cd07220
      Location:4252
      Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      818914..825573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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