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

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. Diseases associated with PLEKHA2 include Cone-Rod Dystrophy 9 and Epilepsy, Familial Temporal Lobe, 4. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Metabolism. 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 Summary 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 , Rfam classification and piRNA Summary for PLEKHA2 Gene

Genomics for PLEKHA2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHA2 Gene

Promoters and enhancers for PLEKHA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHA2

Top Transcription factor binding sites by QIAGEN in the PLEKHA2 gene promoter:
  • IRF-7A
  • NF-E2
  • NF-E2 p45
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Nkx6-1
  • Pax-6
  • RORalpha2

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)
Size:
72,679 bases
Orientation:
Plus strand

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLEKHA2 Gene

Blocks:
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHA2 Gene

GenScript: Design optimal peptide antigens:
  • Tandem PH domain-containing protein 2 (PKHA2_HUMAN)
genes like me logo Genes that share domains with PLEKHA2: view

No data available for Graphical View of Domain Structure and 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 21873635
GO:0043236 laminin binding IMP 19786618
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding IEA,IDA 11001876
genes like me logo Genes that share ontologies with PLEKHA2: view
genes like me logo Genes that share phenotypes with PLEKHA2: view

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 4
nucleus 4
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nuclear bodies (1)
  • Nucleoplasm (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:0032991 protein-containing complex IDA 19786618
genes like me logo Genes that share ontologies with PLEKHA2: view

Pathways & Interactions for PLEKHA2 Gene

PathCards logo

SuperPathways for PLEKHA2 Gene

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

Pathways by source for PLEKHA2 Gene

2 Qiagen pathways for PLEKHA2 Gene
  • ICos-ICosL Pathway in T-Helper Cell
  • PI3K Signaling in B-Lymphocyte

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

mRNA/cDNA for PLEKHA2 Gene

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

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

Expression for PLEKHA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA2 31 30
  • 90.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHA2 31 30
  • 89.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plekha2 17 31 30
  • 86.12 (n)
rat
(Rattus norvegicus)
Mammalia Plekha2 30
  • 84.94 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA2 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA2 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAPP2 31
  • 74 (a)
OneToOne
PLEKHA2 30
  • 72.65 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA2 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha2 30
  • 63.25 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-204d2.4 30
  • 57.84 (n)
PLEKHA2 31
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHA2: view image

Paralogs for PLEKHA2 Gene

Paralogs for PLEKHA2 Gene

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

  • PKHA2_HUMAN
  • E5RGP3_HUMAN
  • E5RHB5_HUMAN
  • L8E8N7_HUMAN
genes like me logo Genes that share paralogs with PLEKHA2: view

Variants for PLEKHA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHA2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs59439576 - p.Ile186Asn

Additional dbSNP identifiers (rs#s) for PLEKHA2 Gene

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

MalaCards: The human disease database

(3) MalaCards diseases for PLEKHA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 9
  • retinitis pigmentosa 9
epilepsy, familial temporal lobe, 4
  • etl4
charcot-marie-tooth disease, type 4b3
  • cmt4b3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLEKHA2: view

No data available for 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 54
  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 41 54
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4 54
  4. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. (PMID: 29467281) O'Loughlin T … Buss F (EMBO reports 2018) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for PLEKHA2 Gene

Sources for PLEKHA2 Gene