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    PLBD2 phospholipase B domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 196463, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PLBD2provided by HGNC
    Official Full Name
    phospholipase B domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:27283
    See related
    Ensembl:ENSG00000151176 MIM:620097; AllianceGenome:HGNC:27283
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P76
    Summary
    Predicted to enable phospholipase activity. Predicted to be involved in phospholipid catabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 36.9), ovary (RPKM 20.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLBD2 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113358587..113391629)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113335210..113368256)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113796392..113829434)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene two pore segment channel 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736197-113736894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736895-113737590 Neighboring gene Sharpr-MPRA regulatory region 468 Neighboring gene NANOG hESC enhancer GRCh37_chr12:113740736-113741469 Neighboring gene microRNA 6762 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:113744904-113746103 Neighboring gene solute carrier family 8 member B1 Neighboring gene MPRA-validated peak1972 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4893 Neighboring gene uncharacterized LOC105369989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113797151-113797650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113801516-113802016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113818149-113818674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113839129-113839630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113839631-113840130 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113851189-113851372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113855942-113856442 Neighboring gene serine dehydratase Neighboring gene serine dehydratase like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Biochemical characterization and lysosomal localization of the mannose-6-phosphate protein p76 (hypothetical protein LOC196463). Jensen AG, et al. Biochem J, 2007 Mar 15. PMID 17105447, Free PMC Article
    2. Identification of phospholipase B from Dictyostelium discoideum reveals a new lipase family present in mammals, flies and nematodes, but not yeast. Morgan CP, et al. Biochem J, 2004 Sep 1. PMID 15193148, Free PMC Article
    3. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. Guard SE, et al. Sci Rep, 2019 Apr 25. PMID 31024071, Free PMC Article
    4. Mapping the mammalian ribosome quality control complex interactome using proximity labeling approaches. Zuzow N, et al. Mol Biol Cell, 2018 May 15. PMID 29540532, Free PMC Article
    5. Quantitative analysis of PPT1 interactome in human neuroblastoma cells. Scifo E, et al. Data Brief, 2015 Sep. PMID 26217791, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. describe the identification of p76 by MS and we analyze several of its biochemical characteristics
      Title: Biochemical characterization and lysosomal localization of the mannose-6-phosphate protein p76 (hypothetical protein LOC196463).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phospholipid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative phospholipase B-like 2
    Names
    76 kDa protein
    LAMA-like protein 2
    PLB homolog 2
    lamina ancestor homolog 2
    mannose-6-phosphate protein associated protein p76
    phospholipase B domain-containing protein 2
    phospholipase B-like 2 32 kDa form
    phospholipase B-like 2 45 kDa form
    NP_001153199.1
    NP_775813.2
    XP_011536325.1
    XP_016874466.1
    XP_054227362.1
    XP_054227363.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001159727.2 → NP_001153199.1  putative phospholipase B-like 2 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010178
      Consensus CDS
      CCDS53834.1
      UniProtKB/Swiss-Prot
      Q8NHP8
      Related
      ENSP00000443463.2, ENST00000545182.6
      Conserved Domains (1) summary
      pfam04916
      Location:81 → 552
      Phospholip_B; Phospholipase B

    2. NM_173542.4 → NP_775813.2  putative phospholipase B-like 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_775813.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010178, BC030618, CN412955
      Consensus CDS
      CCDS9168.1
      UniProtKB/Swiss-Prot
      F5H5E2, Q8NHP8
      Related
      ENSP00000280800.3, ENST00000280800.5
      Conserved Domains (1) summary
      pfam04916
      Location:81 → 584
      Phospholip_B; Phospholipase B

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      113358587..113391629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018977.2 → XP_016874466.1  putative phospholipase B-like 2 isoform X2

    2. XM_011538023.3 → XP_011536325.1  putative phospholipase B-like 2 isoform X1

      Conserved Domains (1) summary
      pfam04916
      Location:2 → 459
      Phospholip_B; Phospholipase B

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      113335210..113368256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371388.1 → XP_054227363.1  putative phospholipase B-like 2 isoform X2

    2. XM_054371387.1 → XP_054227362.1  putative phospholipase B-like 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHP8.2 GenPept UniProtKB/Swiss-Prot:Q8NHP8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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