Aliases for PLEKHA6 Gene

Aliases for PLEKHA6 Gene

  • Pleckstrin Homology Domain Containing A6 2 3 5
  • Pleckstrin Homology Domain-Containing Family A Member 6 3 4
  • Phosphoinositol 3-Phosphate-Binding Protein 3 3 4
  • PH Domain-Containing Family A Member 6 3 4
  • PEPP-3 3 4
  • PEPP3 3 4
  • Pleckstrin Homology Domain Containing, Family A Member 6 2
  • KIAA0969 4

External Ids for PLEKHA6 Gene

Previous GeneCards Identifiers for PLEKHA6 Gene

  • GC01M200919
  • GC01M202454
  • GC01M204187
  • GC01M175352

Summaries for PLEKHA6 Gene

GeneCards Summary for PLEKHA6 Gene

PLEKHA6 (Pleckstrin Homology Domain Containing A6) is a Protein Coding gene. Among its related pathways are PI Metabolism and Metabolism. An important paralog of this gene is PLEKHA7.

Gene Wiki entry for PLEKHA6 Gene

Additional gene information for PLEKHA6 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 PLEKHA6 Gene

Genomics for PLEKHA6 Gene

GeneHancer (GH) Regulatory Elements for PLEKHA6 Gene

Promoters and enhancers for PLEKHA6 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
GH01J204285 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 763.6 +90.1 90112 4.3 SIN3A GATA3 USF2 ZNF217 ZNF362 NFYC ELF1 L3MBTL2 MAX RAD21 PLEKHA6 HSALNG0009867 GOLT1A ETNK2 ERLNC1 PIK3C2B AB372599
GH01J204376 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 750.6 -2.0 -2031 6.8 GATA3 SMARCE1 POLR2A TCF7L2 USF2 NR2F6 ZNF217 L3MBTL2 RAD21 MAX ENSG00000226330 PLEKHA6 lnc-PLEKHA6-1 PPP1R15B ENSG00000231691 ETNK2 ERLNC1 PIK3C2B GOLT1A SOX13
GH01J204357 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 757.8 +18.6 18640 3.4 USF2 ZNF740 PATZ1 POLR2A ZNF561 NRF1 SCRT2 ZBTB48 RAD21 ZBTB17 PLEKHA6 ENSG00000231691 lnc-MDM4-10 RPL21P19
GH01J204375 Enhancer 0.2 Ensembl 756 +2.0 1962 0.8 PLEKHA6 PPP1R15B ENSG00000231691 ETNK2 ERLNC1 GOLT1A lnc-PLEKHA6-1 LINC00628
GH01J204292 Enhancer 1.5 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 31.9 +82.7 82735 6.1 NR2F1 NR2F6 HLF ZBTB33 SP1 PPARG CEBPG CEBPA RXRA SMARCC1 PLEKHA6 GOLT1A ETNK2 HSALNG0009867 AB372599
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHA6 gene promoter:
  • Chx10
  • CP2
  • HEN1
  • Lhx3a
  • LyF-1
  • MyoD
  • NF-1
  • Nkx5-1
  • YY1

Genomic Locations for PLEKHA6 Gene

Genomic Locations for PLEKHA6 Gene
chr1:204,218,851-204,377,763
(GRCh38/hg38)
Size:
158,913 bases
Orientation:
Minus strand
chr1:204,187,979-204,346,793
(GRCh37/hg19)
Size:
158,815 bases
Orientation:
Minus strand

Genomic View for PLEKHA6 Gene

Genes around PLEKHA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA6 Gene

Proteins for PLEKHA6 Gene

  • Protein details for PLEKHA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2H5-PKHA6_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 6
    Protein Accession:
    Q9Y2H5
    Secondary Accessions:
    • A7MD51
    • Q5VTI6

    Protein attributes for PLEKHA6 Gene

    Size:
    1048 amino acids
    Molecular mass:
    117128 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76813.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHA6 Gene

neXtProt entry for PLEKHA6 Gene

Post-translational modifications for PLEKHA6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHA6 Gene

Domains & Families for PLEKHA6 Gene

Gene Families for PLEKHA6 Gene

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

Protein Domains for PLEKHA6 Gene

Suggested Antigen Peptide Sequences for PLEKHA6 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoinositol 3-phosphate-binding protein 3 (A5XEJ2_HUMAN)
  • Phosphoinositol 3-phosphate-binding protein 3 (A5XEJ3_HUMAN)
  • Phosphoinositol 3-phosphate-binding protein 3 (A5XEJ4_HUMAN)
  • Phosphoinositol 3-phosphate-binding protein 3 (A5XEJ5_HUMAN)
  • Phosphoinositol 3-phosphate-binding protein 3 (A5XEJ6_HUMAN)
genes like me logo Genes that share domains with PLEKHA6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHA6 Gene

Function for PLEKHA6 Gene

Phenotypes From GWAS Catalog for PLEKHA6 Gene

genes like me logo Genes that share phenotypes with PLEKHA6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLEKHA6

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA6 Gene

Localization for PLEKHA6 Gene

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 PLEKHA6 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Vesicles (3)
  • Microtubule organizing center (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLEKHA6 Gene

Pathways & Interactions for PLEKHA6 Gene

genes like me logo Genes that share pathways with PLEKHA6: view

Interacting Proteins for PLEKHA6 Gene

Gene Ontology (GO) - Biological Process for PLEKHA6 Gene

None

No data available for SIGNOR curated interactions for PLEKHA6 Gene

Drugs & Compounds for PLEKHA6 Gene

No Compound Related Data Available

Transcripts for PLEKHA6 Gene

mRNA/cDNA for PLEKHA6 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA6 Gene

No ASD Table

Relevant External Links for PLEKHA6 Gene

GeneLoc Exon Structure for
PLEKHA6
ECgene alternative splicing isoforms for
PLEKHA6

Expression for PLEKHA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHA6 Gene

This gene is overexpressed in Liver (13.7), Plasma (8.7), Placenta (6.4), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHA6 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLEKHA6 Gene:

PLEKHA6

SOURCE GeneReport for Unigene cluster for PLEKHA6 Gene:

Hs.253146

mRNA Expression by UniProt/SwissProt for PLEKHA6 Gene:

Q9Y2H5-PKHA6_HUMAN
Tissue specificity: Highly expressed in heart, kidney and throughout the brain.

Evidence on tissue expression from TISSUES for PLEKHA6 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with PLEKHA6: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA6 Gene

Orthologs for PLEKHA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA6 33 32
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA6 33 32
  • 90.24 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA6 33
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekha6 33
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHA6 33
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHA6 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA6 33
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHA6 33
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PLEKHA6 33
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34383 33
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 23 (a)
OneToOne
Species where no ortholog for PLEKHA6 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHA6 Gene

ENSEMBL:
Gene Tree for PLEKHA6 (if available)
TreeFam:
Gene Tree for PLEKHA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHA6: view image

Paralogs for PLEKHA6 Gene

Paralogs for PLEKHA6 Gene

genes like me logo Genes that share paralogs with PLEKHA6: view

Variants for PLEKHA6 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA6 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000003862 -- 204,302,827(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000019186 -- 204,302,289(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000027982 -- 204,264,549(-) A/C 5_prime_UTR_variant, intron_variant
rs1000036931 -- 204,349,505(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000052285 -- 204,345,028(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA6 Gene

Variant ID Type Subtype PubMed ID
esv2449168 CNV insertion 19546169
esv2659081 CNV deletion 23128226
esv2666096 CNV deletion 23128226
esv2762138 CNV gain 21179565
esv3210 CNV loss 18987735
esv3356911 CNV insertion 20981092
esv3357110 CNV insertion 20981092
esv3357869 CNV duplication 20981092
esv3578382 CNV loss 25503493
esv3588614 CNV gain 21293372
esv3588615 CNV gain 21293372
esv3588617 CNV loss 21293372
esv6345 CNV loss 19470904
nsv549039 CNV gain 21841781
nsv818778 CNV gain 17921354
nsv820074 CNV gain 19587683
nsv946604 CNV duplication 23825009

Variation tolerance for PLEKHA6 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHA6 Gene

Human Gene Mutation Database (HGMD)
PLEKHA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA6 Gene

Disorders for PLEKHA6 Gene

Additional Disease Information for PLEKHA6

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

No disorders were found for PLEKHA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA6 Gene

Publications for PLEKHA6 Gene

  1. 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 43 56
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 43 56
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56
  4. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S … Alessi DR (The Biochemical journal 2000) 2 3 56
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 56

Products for PLEKHA6 Gene

Sources for PLEKHA6 Gene