Aliases for PLBD2 Gene

Aliases for PLBD2 Gene

  • Phospholipase B Domain Containing 2 2 3 5
  • P76 2 3 4
  • Mannose-6-Phosphate Protein Associated Protein P76 2 3
  • Phospholipase B Domain-Containing Protein 2 3 4
  • Putative Phospholipase B-Like 2 3 4
  • Lamina Ancestor Homolog 2 3 4
  • LAMA-Like Protein 2 3 4
  • 76 KDa Protein 3 4
  • Phospholipase B-Like 2 32 KDa Form 3
  • Phospholipase B-Like 2 45 KDa Form 3
  • PLB Homolog 2 (Dictyostelium) 2
  • PLB Homolog 2 3
  • EC 3.1.1.- 4
  • EC 3.1.1 51
  • PLBD2 5

External Ids for PLBD2 Gene

Previous GeneCards Identifiers for PLBD2 Gene

  • GC12P112281
  • GC12P113796
  • GC12P110807

Summaries for PLBD2 Gene

GeneCards Summary for PLBD2 Gene

PLBD2 (Phospholipase B Domain Containing 2) is a Protein Coding gene. Diseases associated with PLBD2 include Gallbladder Papillomatosis and Gm1-Gangliosidosis, Type Iii. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PLBD1.

UniProtKB/Swiss-Prot Summary for PLBD2 Gene

Additional gene information for PLBD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLBD2 Gene

Genomics for PLBD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLBD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J113356 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 629.1 +0.0 40 4 SP1 HNRNPL PRDM10 ZNF629 TFE3 ZNF512 LEF1 IKZF1 ZNF692 RCOR2 PLBD2 SLC8B1 LOC105369989 lnc-SDS-1 RBM19 SDSL DDX54 RITA1 ENSG00000201208 RPL6
GH12J113333 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 -24.2 -24165 2.8 SP1 HNRNPL IKZF1 KDM1A ZNF692 RCOR2 BACH1 LARP7 PRDM1 ZNF143 SLC8B1 RBM19 PLBD2 RPL6 piR-57137-009 lnc-SDS-1 lnc-TPCN1-1 IQCD
GH12J113421 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 +63.9 63904 2.4 PRDM10 ZNF629 REST LEF1 IKZF1 JUND LARP7 DDX20 PRDM1 ZIC2 SDSL HSALNG0094158 RBM19 PLBD2 SLC8B1 SDS
GH12J113235 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -116.2 -116170 13.4 HNRNPL CREB1 PRDM10 ZNF629 REST IKZF1 TARDBP ZHX2 JUND FOXA1 RITA1 RASAL1 TPCN1 IQCD DDX54 ENSG00000201208 PLBD2 ENSG00000277566 RF00017-1284 lnc-TPCN1-2
GH12J113403 Promoter/Enhancer 1.1 Ensembl ENCODE 11.2 +45.3 45276 1.3 IKZF1 KDM1A PHF21A HDAC1 ZNF341 CBX3 NFE2 HDAC2 ZNF316 NR2C2 lnc-SLC8B1-1 SDSL PLBD2 LHX5 HSALNG0094156 SDS SLC8B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLBD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLBD2

Top Transcription factor binding sites by QIAGEN in the PLBD2 gene promoter:
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • HSF1 (long)
  • HSF1short
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for PLBD2 Gene

Genomic Locations for PLBD2 Gene
chr12:113,358,566-113,391,629
(GRCh38/hg38)
Size:
33,064 bases
Orientation:
Plus strand
chr12:113,796,371-113,827,458
(GRCh37/hg19)
Size:
31,088 bases
Orientation:
Plus strand

Genomic View for PLBD2 Gene

Genes around PLBD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLBD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLBD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLBD2 Gene

Proteins for PLBD2 Gene

  • Protein details for PLBD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHP8-PLBL2_HUMAN
    Recommended name:
    Putative phospholipase B-like 2
    Protein Accession:
    Q8NHP8
    Secondary Accessions:
    • F5H5E2

    Protein attributes for PLBD2 Gene

    Size:
    589 amino acids
    Molecular mass:
    65472 Da
    Quaternary structure:
    • Interacts with IGF2R.

    Alternative splice isoforms for PLBD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLBD2 Gene

Selected DME Specific Peptides for PLBD2 Gene

Q8NHP8:
  • YWASYNIP
  • NSGTYNN
  • GSGSCSALIKLLPG
  • LEQIPGMVVVAD
  • YWHQVRLTLLQLKGLEDSYEG
  • DLLVAHNTW

Post-translational modifications for PLBD2 Gene

  • The p76 protein is synthesized as a 80 kDa precursor which is then processed into a N-terminal 32 kDa form and a C-terminal 45 kDa form.
  • Glycosylated; contains mannose 6-phosphate sugars.
  • Glycosylation at Asn88, Asn110, Asn231, Asn436, Asn465, and Asn515
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PLBL2_HUMAN (1700)

Other Protein References for PLBD2 Gene

Domains & Families for PLBD2 Gene

Gene Families for PLBD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLBD2 Gene

Suggested Antigen Peptide Sequences for PLBD2 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase B domain-containing protein 2 (PLBL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHP8

UniProtKB/Swiss-Prot:

PLBL2_HUMAN :
  • Belongs to the phospholipase B-like family.
Family:
  • Belongs to the phospholipase B-like family.
genes like me logo Genes that share domains with PLBD2: view

Function for PLBD2 Gene

Molecular function for PLBD2 Gene

UniProtKB/Swiss-Prot Function:
Putative phospholipase.

Enzyme Numbers (IUBMB) for PLBD2 Gene

Phenotypes From GWAS Catalog for PLBD2 Gene

Gene Ontology (GO) - Molecular Function for PLBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLBD2: view
genes like me logo Genes that share phenotypes with PLBD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLBD2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLBD2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLBD2 Gene

Localization for PLBD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLBD2 Gene

Lysosome lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLBD2 gene
Compartment Confidence
extracellular 4
lysosome 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for PLBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0043202 lysosomal lumen IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PLBD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLBD2 Gene

Pathways & Interactions for PLBD2 Gene

PathCards logo

SuperPathways for PLBD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLBD2: view

No data available for Pathways by source and SIGNOR curated interactions for PLBD2 Gene

Drugs & Compounds for PLBD2 Gene

No Compound Related Data Available

Transcripts for PLBD2 Gene

mRNA/cDNA for PLBD2 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLBD2

Alternative Splicing Database (ASD) splice patterns (SP) for PLBD2 Gene

No ASD Table

Relevant External Links for PLBD2 Gene

GeneLoc Exon Structure for
PLBD2

Expression for PLBD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLBD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLBD2 Gene

This gene is overexpressed in Adrenal Gland (x6.0).

Protein differential expression in normal tissues from HIPED for PLBD2 Gene

This gene is overexpressed in Liver (33.9), Amniocyte (12.7), and Adrenal (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLBD2 Gene



Protein tissue co-expression partners for PLBD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLBD2

SOURCE GeneReport for Unigene cluster for PLBD2 Gene:

Hs.115896

mRNA Expression by UniProt/SwissProt for PLBD2 Gene:

Q8NHP8-PLBL2_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in heart, brain and liver.

Evidence on tissue expression from TISSUES for PLBD2 Gene

  • Liver(4.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with PLBD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLBD2 Gene

Orthologs for PLBD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLBD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLBD2 30 31
  • 99.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLBD2 30 31
  • 86.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plbd2 30 17 31
  • 85.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plbd2 30
  • 83.81 (n)
Dog
(Canis familiaris)
Mammalia PLBD2 30 31
  • 82.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia PLBD2 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLBD2 30 31
  • 73.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLBD2 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plbd2 30
  • 64 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta lama 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y37D8A.2 30 31
  • 49.56 (n)
ManyToMany
F09B12.3 31
  • 38 (a)
ManyToMany
Y54F10AM.8 31
  • 34 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
Species where no ortholog for PLBD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for PLBD2 Gene

ENSEMBL:
Gene Tree for PLBD2 (if available)
TreeFam:
Gene Tree for PLBD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLBD2: view image

Paralogs for PLBD2 Gene

Paralogs for PLBD2 Gene

genes like me logo Genes that share paralogs with PLBD2: view

Variants for PLBD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLBD2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs12425042 - p.Arg524Cys
rs7965471 - p.Gln54Pro

Additional dbSNP identifiers (rs#s) for PLBD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLBD2 Gene

Variant ID Type Subtype PubMed ID
esv2746381 CNV deletion 23290073
esv3630792 CNV gain 21293372
esv3630797 CNV loss 21293372
esv3892265 CNV gain 25118596
nsv1127292 CNV deletion 24896259
nsv519540 CNV gain+loss 19592680

Variation tolerance for PLBD2 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLBD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLBD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLBD2 Gene

Disorders for PLBD2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PLBD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gallbladder papillomatosis
gm1-gangliosidosis, type iii
  • gangliosidosis, generalized gm1, adult type
sea-blue histiocyte disease
  • sea-blue histiocytosis
gm1-gangliosidosis, type ii
  • gangliosidosis, generalized gm1, juvenile type
retinitis pigmentosa 28
  • rp28
- elite association - COSMIC cancer census association via MalaCards
Search PLBD2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PLBD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLBD2 Gene

Publications for PLBD2 Gene

  1. Biochemical characterization and lysosomal localization of the mannose-6-phosphate protein p76 (hypothetical protein LOC196463). (PMID: 17105447) Jensen AG … Journet A (The Biochemical journal 2007) 2 3 4
  2. Identification of phospholipase B from Dictyostelium discoideum reveals a new lipase family present in mammals, flies and nematodes, but not yeast. (PMID: 15193148) Morgan CP … Cockcroft S (The Biochemical journal 2004) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. (PMID: 31024071) Guard SE … Old WM (Scientific reports 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for PLBD2 Gene

  • Signalway ELISA kits for PLBD2
  • Signalway Proteins for PLBD2

Sources for PLBD2 Gene