Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLEKHA2 Gene

Aliases for PLEKHA2 Gene

  • Pleckstrin Homology Domain Containing A2 2 3 5
  • Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 2 2 3
  • PH Domain-Containing Family A Member 2 3 4
  • Tandem PH Domain Containing Protein-2 2 3
  • Tandem PH Domain-Containing Protein 2 3 4
  • TAPP-2 3 4
  • TAPP2 3 4
  • Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 2 2
  • Pleckstrin Homology Domain-Containing Family A Member 2 3

External Ids for PLEKHA2 Gene

Previous GeneCards Identifiers for PLEKHA2 Gene

  • GC08U990120
  • GC08M038973
  • GC08P038499
  • GC08P038776
  • GC08P037294

Summaries for PLEKHA2 Gene

GeneCards Summary for PLEKHA2 Gene

PLEKHA2 (Pleckstrin Homology Domain Containing A2) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include lipid binding and fibronectin binding. An important paralog of this gene is PLEKHA1.

UniProtKB/Swiss-Prot for PLEKHA2 Gene

  • Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).

Additional gene information for PLEKHA2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA2 Gene

Genomics for PLEKHA2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHA2 Gene

Promoters and enhancers for PLEKHA2 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
GH08I038898 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557.8 +1.0 959 6.8 HDGF PKNOX1 FEZF1 GTF3C2 ZNF121 ZNF766 ZNF143 ATF7 FOS RUNX3 PLEKHA2 HTRA4 ENSG00000253645 TM2D2 ADAM9 TACC1 DDHD2 C8orf86 GC08M038869
GH08I038995 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +99.6 99561 10.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 TM2D2 ADAM32 ENSG00000253645 HTRA4 PLEKHA2 ENSG00000272128 ADAM9 SNORD38D GC08M039019 GC08M038869
GH08I038923 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.4 +25.6 25582 6.6 PKNOX1 FOXA2 SIN3A YY1 GTF3C2 FOS RXRA REST SMARCB1 MAFF PLEKHA2 HTRA4 ENSG00000253645 GC08M038869
GH08I038941 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.8 +42.8 42792 5.5 PKNOX1 FOXA2 BATF THRB ZBTB40 RARA CHAMP1 ZNF121 ZNF766 RUNX3 PLEKHA2 ADAM9 TM2D2 ENSG00000253645 GC08M038869
GH08I038850 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.4 -49.1 -49089 4.1 HDAC1 PKNOX1 NFIB ARNT ZNF766 BCLAF1 ZNF362 ZBTB11 USF2 ELF1 GC08P038853 PIR62535 PLEKHA2 TACC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHA2 gene promoter:

Genomic Locations for PLEKHA2 Gene

Genomic Locations for PLEKHA2 Gene
chr8:38,901,235-38,973,912
(GRCh38/hg38)
Size:
72,678 bases
Orientation:
Plus strand
chr8:38,758,753-38,831,431
(GRCh37/hg19)

Genomic View for PLEKHA2 Gene

Genes around PLEKHA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA2 Gene

Proteins for PLEKHA2 Gene

  • Protein details for PLEKHA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB19-PKHA2_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 2
    Protein Accession:
    Q9HB19

    Protein attributes for PLEKHA2 Gene

    Size:
    425 amino acids
    Molecular mass:
    47255 Da
    Quaternary structure:
    • Binds MPDZ and PTPN13.
    SequenceCaution:
    • Sequence=AAG15201.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PLEKHA2 Gene

Post-translational modifications for PLEKHA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHA2 Gene

Domains & Families for PLEKHA2 Gene

Gene Families for PLEKHA2 Gene

Protein Domains for PLEKHA2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLEKHA2: view

No data available for UniProtKB/Swiss-Prot for PLEKHA2 Gene

Function for PLEKHA2 Gene

Molecular function for PLEKHA2 Gene

UniProtKB/Swiss-Prot Function:
Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).

Phenotypes From GWAS Catalog for PLEKHA2 Gene

Gene Ontology (GO) - Molecular Function for PLEKHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IMP 19786618
GO:0005515 protein binding IPI 19786618
GO:0030165 PDZ domain binding IBA --
GO:0035091 phosphatidylinositol binding IBA --
GO:0043236 laminin binding IMP 19786618
genes like me logo Genes that share ontologies with PLEKHA2: view
genes like me logo Genes that share phenotypes with PLEKHA2: view

Animal Model Products

miRNA for PLEKHA2 Gene

miRTarBase miRNAs that target PLEKHA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA2 Gene

Localization for PLEKHA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA2 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2. {ECO:0000250}.

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 PLEKHA2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nuclear bodies (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 19786618
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA 19786618
GO:0043234 protein complex IDA 19786618
genes like me logo Genes that share ontologies with PLEKHA2: view

Pathways & Interactions for PLEKHA2 Gene

genes like me logo Genes that share pathways with PLEKHA2: view

Pathways by source for PLEKHA2 Gene

Interacting Proteins for PLEKHA2 Gene

Gene Ontology (GO) - Biological Process for PLEKHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IMP 19786618
GO:0006661 phosphatidylinositol biosynthetic process TAS --
genes like me logo Genes that share ontologies with PLEKHA2: view

No data available for SIGNOR curated interactions for PLEKHA2 Gene

Drugs & Compounds for PLEKHA2 Gene

No Compound Related Data Available

Transcripts for PLEKHA2 Gene

Unigene Clusters for PLEKHA2 Gene

Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA2 Gene

No ASD Table

Relevant External Links for PLEKHA2 Gene

GeneLoc Exon Structure for
PLEKHA2
ECgene alternative splicing isoforms for
PLEKHA2

Expression for PLEKHA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.2), Monocytes (10.2), Vitreous humor (9.1), and Lymph node (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHA2 Gene



Protein tissue co-expression partners for PLEKHA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHA2 Gene:

PLEKHA2

SOURCE GeneReport for Unigene cluster for PLEKHA2 Gene:

Hs.369123

mRNA Expression by UniProt/SwissProt for PLEKHA2 Gene:

Q9HB19-PKHA2_HUMAN
Tissue specificity: Highly expressed in heart, kidney, spleen and peripheral blood leukocytes. Detected at lower levels in brain, skeletal muscle, colon, thymus, liver, small intestine, placenta and lung.

Evidence on tissue expression from TISSUES for PLEKHA2 Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with PLEKHA2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA2 Gene

Orthologs for PLEKHA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA2 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia PLEKHA2 33 34
  • 90.04 (n)
cow
(Bos Taurus)
Mammalia PLEKHA2 33 34
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Plekha2 33 16 34
  • 86.12 (n)
rat
(Rattus norvegicus)
Mammalia Plekha2 33
  • 84.94 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAPP2 34
  • 74 (a)
OneToOne
PLEKHA2 33
  • 72.65 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha2 33
  • 63.25 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-204d2.4 33
  • 57.84 (n)
PLEKHA2 34
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for PLEKHA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PLEKHA2 Gene

ENSEMBL:
Gene Tree for PLEKHA2 (if available)
TreeFam:
Gene Tree for PLEKHA2 (if available)

Paralogs for PLEKHA2 Gene

Paralogs for PLEKHA2 Gene

(1) SIMAP similar genes for PLEKHA2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PLEKHA2: view

Variants for PLEKHA2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000045674 -- 38,918,771(+) A/G intron_variant
rs1000077674 -- 38,921,211(+) T/C intron_variant
rs1000165257 -- 38,928,269(+) G/A intron_variant
rs1000248745 -- 38,960,500(+) G/T intron_variant
rs1000253307 -- 38,949,031(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA2 Gene

Variant ID Type Subtype PubMed ID
esv3616935 CNV loss 21293372
esv3616936 CNV loss 21293372
nsv465637 CNV loss 19166990
nsv516960 CNV loss 19592680
nsv522550 CNV loss 19592680
nsv610950 CNV loss 21841781

Variation tolerance for PLEKHA2 Gene

Gene Damage Index Score: 2.22; 39.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA2 Gene

Disorders for PLEKHA2 Gene

Additional Disease Information for PLEKHA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PLEKHA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA2 Gene

Publications for PLEKHA2 Gene

  1. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S … Alessi DR (The Biochemical journal 2000) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4 58
  4. E-cadherin interactome complexity and robustness resolved by quantitative proteomics. (PMID: 25468996) Guo Z … Zaidel-Bar R (Science signaling 2014) 3 58
  5. Uncovering global SUMOylation signaling networks in a site-specific manner. (PMID: 25218447) Hendriks IA … Vertegaal AC (Nature structural & molecular biology 2014) 4 58

Products for PLEKHA2 Gene

Sources for PLEKHA2 Gene

Content
Loading form....