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Aliases for PLEKHB2 Gene

Aliases for PLEKHB2 Gene

  • Pleckstrin Homology Domain Containing B2 2 3 5
  • Pleckstrin Homology Domain Containing, Family B (Evectins) Member 2 2 3
  • PH Domain-Containing Family B Member 2 3 4
  • Evectin-2 3 4
  • EVT2 3 4
  • Pleckstrin Homology Domain-Containing Family B Member 2 3

External Ids for PLEKHB2 Gene

Previous GeneCards Identifiers for PLEKHB2 Gene

  • GC02P129385
  • GC02P131885
  • GC02P132073
  • GC02P131698
  • GC02P131578
  • GC02P123929
  • GC02P131862
  • GC02P131204
  • GC02P131239
  • GC02P131258
  • GC02P131299
  • GC02P131348
  • GC02P131325
  • GC02P131566
  • GC02P131622

Summaries for PLEKHB2 Gene

GeneCards Summary for PLEKHB2 Gene

PLEKHB2 (Pleckstrin Homology Domain Containing B2) is a Protein Coding gene. Diseases associated with PLEKHB2 include Exudative Vitreoretinopathy. An important paralog of this gene is PLEKHB1.

UniProtKB/Swiss-Prot for PLEKHB2 Gene

  • Involved in retrograde transport of recycling endosomes.

Gene Wiki entry for PLEKHB2 Gene

Additional gene information for PLEKHB2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHB2 Gene

Genomics for PLEKHB2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHB2 Gene

Promoters and enhancers for PLEKHB2 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
GH02J131103 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 672.8 +0.7 650 4.6 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 ZNF213 PLEKHB2 PTPN18 ENSG00000227632 ARHGEF4 ENSG00000213222 PIR42706 GC02P130573
GH02J131077 Enhancer 0.9 ENCODE dbSUPER 12.2 -27.3 -27304 0.8 FOXA2 TAF1 SAP130 MAX ZNF384 RAD21 YY1 EGR1 NFIA RXRA PLEKHB2 PIR46037 FAM168B GC02P130573
GH02J131076 Enhancer 0.7 ENCODE 12.2 -27.8 -27792 0.2 FOXA2 TAF1 SAP130 MAX RAD21 YY1 EGR1 RXRA REST FOXA1 PLEKHB2 PIR46037 FAM168B GC02P130573
GH02J131081 Enhancer 0.4 dbSUPER 12.2 -23.0 -23038 1 RXRA HNF4A PLEKHB2 ARHGEF4 PIR46037 FAM168B GC02P130573
GH02J131057 Enhancer 0.4 dbSUPER 11.3 -45.7 -45653 2.2 SCRT2 MNT FAM168B PLEKHB2 ARHGEF4 GC02M131056 PIR42343 PIR46037 GC02P130573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHB2 gene promoter:
  • E4BP4
  • AhR
  • Arnt

Genomic Locations for PLEKHB2 Gene

Genomic Locations for PLEKHB2 Gene
chr2:131,104,735-131,353,709
(GRCh38/hg38)
Size:
248,975 bases
Orientation:
Plus strand
chr2:131,862,420-132,111,282
(GRCh37/hg19)
Size:
248,863 bases
Orientation:
Plus strand

Genomic View for PLEKHB2 Gene

Genes around PLEKHB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHB2 Gene

Proteins for PLEKHB2 Gene

  • Protein details for PLEKHB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CS7-PKHB2_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family B member 2
    Protein Accession:
    Q96CS7
    Secondary Accessions:
    • B4DF08
    • B4DZ66
    • B8ZZN1
    • Q53FF1
    • Q53TH7
    • Q86W37
    • Q9BV75
    • Q9NWK1

    Protein attributes for PLEKHB2 Gene

    Size:
    222 amino acids
    Molecular mass:
    24736 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PLEKHB2 Gene

    Alternative splice isoforms for PLEKHB2 Gene

neXtProt entry for PLEKHB2 Gene

Post-translational modifications for PLEKHB2 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5, 646
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLEKHB2 Gene

Domains & Families for PLEKHB2 Gene

Gene Families for PLEKHB2 Gene

Protein Domains for PLEKHB2 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96CS7

UniProtKB/Swiss-Prot:

PKHB2_HUMAN :
  • The PH domain specifically binds phosphatidylserine, which is enriched in recycling endosome membranes, it doesnt recognize PIPs.
Domain:
  • The PH domain specifically binds phosphatidylserine, which is enriched in recycling endosome membranes, it doesnt recognize PIPs.
genes like me logo Genes that share domains with PLEKHB2: view

Function for PLEKHB2 Gene

Molecular function for PLEKHB2 Gene

UniProtKB/Swiss-Prot Function:
Involved in retrograde transport of recycling endosomes.

Gene Ontology (GO) - Molecular Function for PLEKHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 11001876
genes like me logo Genes that share ontologies with PLEKHB2: view

Phenotypes for PLEKHB2 Gene

genes like me logo Genes that share phenotypes with PLEKHB2: view

Animal Model Products

miRNA for PLEKHB2 Gene

miRTarBase miRNAs that target PLEKHB2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHB2 Gene

Localization for PLEKHB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHB2 Gene

Recycling endosome membrane; Peripheral membrane protein. Note=Specifically detected in tubulovesicular structures, and colocalizes with TFNR.

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 PLEKHB2 gene
Compartment Confidence
endosome 4
peroxisome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PLEKHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
GO:0055038 recycling endosome membrane IEA --
genes like me logo Genes that share ontologies with PLEKHB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLEKHB2 Gene

Pathways & Interactions for PLEKHB2 Gene

SuperPathways for PLEKHB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045595 regulation of cell differentiation IBA --
genes like me logo Genes that share ontologies with PLEKHB2: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHB2 Gene

Drugs & Compounds for PLEKHB2 Gene

No Compound Related Data Available

Transcripts for PLEKHB2 Gene

Unigene Clusters for PLEKHB2 Gene

Pleckstrin homology domain containing, family B (evectins) member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHB2 Gene

No ASD Table

Relevant External Links for PLEKHB2 Gene

GeneLoc Exon Structure for
PLEKHB2
ECgene alternative splicing isoforms for
PLEKHB2

Expression for PLEKHB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHB2 Gene

Protein differential expression in normal tissues from HIPED for PLEKHB2 Gene

This gene is overexpressed in Urine (47.3) and Adrenal (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHB2 Gene



Protein tissue co-expression partners for PLEKHB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLEKHB2 Gene:

PLEKHB2

SOURCE GeneReport for Unigene cluster for PLEKHB2 Gene:

Hs.469944

Evidence on tissue expression from TISSUES for PLEKHB2 Gene

  • Nervous system(5)
  • Intestine(4.4)
  • Lung(4.3)
  • Pancreas(4.2)
  • Skin(4.2)
  • Liver(2.7)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with PLEKHB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHB2 Gene

Orthologs for PLEKHB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHB2 34 33
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHB2 34 33
  • 88.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHB2 34 33
  • 87.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhb2 33
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHB2 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhb2 16 34 33
  • 82.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHB2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHB2 34 33
  • 72.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHB2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhb2 33
  • 63.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68594 33
zebrafish
(Danio rerio)
Actinopterygii plekhb2 34 33
  • 60.69 (n)
OneToOne
zgc55604 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11092 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7950 34
  • 34 (a)
OneToMany
Species where no ortholog for PLEKHB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHB2 Gene

ENSEMBL:
Gene Tree for PLEKHB2 (if available)
TreeFam:
Gene Tree for PLEKHB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHB2: view image

Paralogs for PLEKHB2 Gene

Paralogs for PLEKHB2 Gene

(1) SIMAP similar genes for PLEKHB2 Gene using alignment to 3 proteins:

  • PKHB2_HUMAN
  • B4DJB7_HUMAN
  • B7WPA5_HUMAN
genes like me logo Genes that share paralogs with PLEKHB2: view

Variants for PLEKHB2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHB2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000041185 -- 131,123,393(+) A/G intron_variant
rs1000047920 -- 131,126,454(+) A/T intron_variant
rs1000061250 -- 131,129,908(+) A/G intron_variant
rs1000124105 -- 131,114,670(+) G/A intron_variant
rs1000182518 -- 131,120,245(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHB2 Gene

Variant ID Type Subtype PubMed ID
dgv2032n106 OTHER inversion 24896259
dgv4074n100 CNV gain 25217958
dgv4075n100 CNV gain 25217958
dgv4076n100 CNV gain 25217958
dgv616e201 CNV deletion 23290073
dgv731e199 CNV deletion 23128226
esv1559384 CNV insertion 17803354
esv2668411 CNV deletion 23128226
esv2670824 CNV deletion 23128226
esv2720779 CNV deletion 23290073
esv2720780 CNV deletion 23290073
esv2759092 CNV gain+loss 17122850
esv2760576 CNV gain+loss 21179565
esv2864458 CNV insertion 24192839
esv3592463 CNV loss 21293372
esv3893337 CNV loss 25118596
esv6707 OTHER inversion 19470904
nsv1005040 CNV gain 25217958
nsv1005763 CNV gain 25217958
nsv1014723 CNV loss 25217958
nsv1125388 OTHER inversion 24896259
nsv1147463 OTHER inversion 26484159
nsv428404 CNV loss 18775914
nsv433232 CNV loss 18776910
nsv475477 CNV novel sequence insertion 20440878
nsv524021 CNV loss 19592680
nsv583135 CNV loss 21841781
nsv7327 OTHER inversion 18451855

Variation tolerance for PLEKHB2 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHB2 Gene

Disorders for PLEKHB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHB2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHB2

genes like me logo Genes that share disorders with PLEKHB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHB2 Gene

Publications for PLEKHB2 Gene

  1. Structural basis of the strict phospholipid binding specificity of the pleckstrin homology domain of human evectin-2. (PMID: 22281740) Okazaki S … Wakatsuki S (Acta crystallographica. Section D, Biological crystallography 2012) 3 4 58
  2. Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes. (PMID: 21911378) Uchida Y … Arai H (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Evectins: vesicular proteins that carry a pleckstrin homology domain and localize to post-Golgi membranes. (PMID: 10200314) Krappa R … Lemke G (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 58

Products for PLEKHB2 Gene

Sources for PLEKHB2 Gene

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