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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
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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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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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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)

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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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

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