Aliases for PLEKHA5 Gene

Aliases for PLEKHA5 Gene

  • Pleckstrin Homology Domain Containing A5 2 3 5
  • PEPP2 2 3 4
  • Pleckstrin Homology Domain Containing, Family A Member 5 2 3
  • Pleckstrin Homology Domain-Containing Family A Member 5 3 4
  • PH Domain-Containing Family A Member 5 3 4
  • KIAA1686 2 4
  • PEPP-2 3 4
  • Phosphoinositol 3-Phosphate-Binding Protein-2 3
  • Phosphoinositol 3-Phosphate-Binding Protein 2 4
  • FLJ10667 2
  • PLEKHA5 5

External Ids for PLEKHA5 Gene

Previous GeneCards Identifiers for PLEKHA5 Gene

  • GC12P019174
  • GC12P019282
  • GC12P019052

Summaries for PLEKHA5 Gene

GeneCards Summary for PLEKHA5 Gene

PLEKHA5 (Pleckstrin Homology Domain Containing A5) is a Protein Coding gene. Diseases associated with PLEKHA5 include Blepharocheilodontic Syndrome 1. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is PLEKHA7.

Gene Wiki entry for PLEKHA5 Gene

Additional gene information for PLEKHA5 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHA5 Gene

Genomics for PLEKHA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHA5 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 PLEKHA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHA5

Top Transcription factor binding sites by QIAGEN in the PLEKHA5 gene promoter:
  • ATF
  • E47
  • GR
  • GR-alpha
  • GR-beta
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • Pax-6
  • Tal-1beta

Genomic Locations for PLEKHA5 Gene

Genomic Locations for PLEKHA5 Gene
chr12:19,129,680-19,376,400
(GRCh38/hg38)
Size:
246,721 bases
Orientation:
Plus strand
chr12:19,282,626-19,529,334
(GRCh37/hg19)
Size:
246,709 bases
Orientation:
Plus strand

Genomic View for PLEKHA5 Gene

Genes around PLEKHA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA5 Gene

Proteins for PLEKHA5 Gene

  • Protein details for PLEKHA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAU0-PKHA5_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 5
    Protein Accession:
    Q9HAU0
    Secondary Accessions:
    • A0JP03
    • B4DGS1
    • E9PHQ3
    • F5H0I0
    • Q6NSF8
    • Q86ST7
    • Q8N3K6
    • Q96DY9
    • Q9BVR4
    • Q9C0H7
    • Q9H924
    • Q9NVK8

    Protein attributes for PLEKHA5 Gene

    Size:
    1116 amino acids
    Molecular mass:
    127464 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH70174.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91742.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB14419.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21777.2; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 6]: Specifically expressed in brain.

    Three dimensional structures from OCA and Proteopedia for PLEKHA5 Gene

    Alternative splice isoforms for PLEKHA5 Gene

neXtProt entry for PLEKHA5 Gene

Post-translational modifications for PLEKHA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHA5 Gene

Domains & Families for PLEKHA5 Gene

Gene Families for PLEKHA5 Gene

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

Protein Domains for PLEKHA5 Gene

InterPro:
Blocks:
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHA5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59284, highly similar to Pleckstrin homology domain-containing family A member 5 (B4DJX4_HUMAN)
  • Phosphoinositol 3-phosphate-binding protein 2 (PKHA5_HUMAN)
  • PLEKHA5 protein (Q6NSF8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HAU0

UniProtKB/Swiss-Prot:

PKHA5_HUMAN :
  • Specifically interacts with PI3P, PI4P, PI5P, and PI(3,5)P2.
Domain:
  • Specifically interacts with PI3P, PI4P, PI5P, and PI(3,5)P2.
genes like me logo Genes that share domains with PLEKHA5: view

Function for PLEKHA5 Gene

Phenotypes From GWAS Catalog for PLEKHA5 Gene

Gene Ontology (GO) - Molecular Function for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16713569
GO:0010314 phosphatidylinositol-5-phosphate binding IEA,IBA 21873635
GO:0032266 phosphatidylinositol-3-phosphate binding IEA,IBA 21873635
GO:0070273 phosphatidylinositol-4-phosphate binding IEA,IBA 21873635
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with PLEKHA5: view
genes like me logo Genes that share phenotypes with PLEKHA5: view

Animal Model Products

CRISPR Products

miRNA for PLEKHA5 Gene

miRTarBase miRNAs that target PLEKHA5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHA5

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA5 Gene

Localization for PLEKHA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA5 Gene

Cytoplasm.

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 PLEKHA5 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with PLEKHA5: view

Pathways & Interactions for PLEKHA5 Gene

genes like me logo Genes that share pathways with PLEKHA5: view

Gene Ontology (GO) - Biological Process for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0061458 reproductive system development IEA --
genes like me logo Genes that share ontologies with PLEKHA5: view

No data available for SIGNOR curated interactions for PLEKHA5 Gene

Drugs & Compounds for PLEKHA5 Gene

No Compound Related Data Available

Transcripts for PLEKHA5 Gene

mRNA/cDNA for PLEKHA5 Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
16 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 PLEKHA5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b · 32c
SP1: -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PLEKHA5 Gene

GeneLoc Exon Structure for
PLEKHA5

Expression for PLEKHA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHA5 Gene

Protein differential expression in normal tissues from HIPED for PLEKHA5 Gene

This gene is overexpressed in Brain (24.6) and Cervix (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHA5 Gene



Protein tissue co-expression partners for PLEKHA5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHA5

SOURCE GeneReport for Unigene cluster for PLEKHA5 Gene:

Hs.188614

mRNA Expression by UniProt/SwissProt for PLEKHA5 Gene:

Q9HAU0-PKHA5_HUMAN
Tissue specificity: Highly expressed in heart and kidney.

Evidence on tissue expression from TISSUES for PLEKHA5 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Intestine(4.3)
  • Lung(4.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with PLEKHA5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA5 Gene

Orthologs for PLEKHA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHA5 30
  • 99.57 (n)
Dog
(Canis familiaris)
Mammalia PLEKHA5 30 31
  • 93.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHA5 30 31
  • 90.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plekha5 30 17 31
  • 85.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekha5 30
  • 85.49 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLEKHA5 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA5 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHA5 30 31
  • 77.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHA5 31
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11613 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.7383 30
Zebrafish
(Danio rerio)
Actinopterygii plekha5 30 31
  • 61.67 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG34383 31
  • 9 (a)
OneToMany
Species where no ortholog for PLEKHA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Squirt (Ciona savignyi)
  • 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 PLEKHA5 Gene

ENSEMBL:
Gene Tree for PLEKHA5 (if available)
TreeFam:
Gene Tree for PLEKHA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHA5: view image

Paralogs for PLEKHA5 Gene

Paralogs for PLEKHA5 Gene

(3) SIMAP similar genes for PLEKHA5 Gene using alignment to 8 proteins:

  • PKHA5_HUMAN
  • A0JP02_HUMAN
  • B4DJX4_HUMAN
  • E7EME8_HUMAN
  • F5H1X3_HUMAN
  • H0YG48_HUMAN
  • H0YGJ6_HUMAN
  • L8E8X2_HUMAN
genes like me logo Genes that share paralogs with PLEKHA5: view

Variants for PLEKHA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHA5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
719840 Benign: not provided 19,314,828(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
781698 Benign: not provided 19,274,579(+) A/G SYNONYMOUS_VARIANT
816927 Uncertain Significance: Bilateral cleft lip 19,287,548(+) G/C MISSENSE_VARIANT
834028 Likely Pathogenic: Cleft Lip with or without Cleft Palate 19,287,480(+) A/G MISSENSE_VARIANT
834029 Uncertain Significance: Cleft Lip with or without Cleft Palate 19,274,919(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLEKHA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA5 Gene

Variant ID Type Subtype PubMed ID
dgv1398n100 CNV gain 25217958
dgv1399n100 CNV gain 25217958
dgv188n27 CNV gain 19166990
dgv2396n54 CNV gain 21841781
dgv2397n54 CNV gain 21841781
dgv2398n54 CNV gain 21841781
dgv257e214 CNV loss 21293372
dgv464e212 CNV gain 25503493
esv1008021 CNV insertion 20482838
esv1027404 CNV insertion 17803354
esv2422206 CNV duplication 17116639
esv2422261 CNV duplication 17116639
esv2422498 CNV duplication 17116639
esv2663408 CNV deletion 23128226
esv2745617 CNV deletion 23290073
esv2761021 CNV gain 21179565
esv33101 CNV gain 17666407
esv3580171 CNV loss 25503493
esv3628750 CNV loss 21293372
esv3628751 CNV loss 21293372
esv3628753 CNV gain 21293372
esv3628755 CNV gain 21293372
esv3628756 CNV gain 21293372
esv3628758 CNV gain 21293372
esv3628759 CNV gain 21293372
esv3892157 CNV gain 25118596
nsv1041486 CNV gain 25217958
nsv1070097 CNV deletion 25765185
nsv1122703 CNV deletion 24896259
nsv1125341 OTHER inversion 24896259
nsv1127252 CNV deletion 24896259
nsv1134205 CNV deletion 24896259
nsv1145585 CNV deletion 24896259
nsv428274 CNV loss 18775914
nsv469131 CNV gain 19166990
nsv470273 CNV gain 18288195
nsv516362 CNV gain+loss 19592680
nsv557675 CNV loss 21841781
nsv557696 CNV gain 21841781
nsv832346 CNV loss 17160897
nsv951336 CNV duplication 24416366

Variation tolerance for PLEKHA5 Gene

Residual Variation Intolerance Score: 5.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA5 Gene

Disorders for PLEKHA5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHA5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
blepharocheilodontic syndrome 1
  • bcds1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHA5

genes like me logo Genes that share disorders with PLEKHA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHA5 Gene

Publications for PLEKHA5 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  2. 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
  3. Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development. (PMID: 22037487) Yamada K … Wakamatsu N (Gene 2012) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PLEKHA5 Gene

Sources for PLEKHA5 Gene