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Aliases for PI4KA Gene

Aliases for PI4KA Gene

  • Phosphatidylinositol 4-Kinase Alpha 2 3 3 5
  • Phosphatidylinositol 4-Kinase, Catalytic, Alpha 2 3
  • Phosphatidylinositol 4-Kinase III Alpha 2 3
  • PtdIns-4-Kinase Alpha 3 4
  • PI4-Kinase Alpha 3 4
  • PIK4CA 3 4
  • Phosphatidylinositol 4-Kinase, Type III, Alpha 3
  • Phosphatidylinositol 4-Kinase IIII+/- 3
  • Phosphatidylinositol 4-Kinase IIIα 2
  • Testicular Secretory Protein Li 35 3
  • Phosphatidylinositol 4-Kinase 230 3
  • EC 2.7.1.67 4
  • PI4K-ALPHA 3
  • PI4K-Alpha 4
  • PMGYCHA 3
  • Pi4K230 3
  • PIK4 4

External Ids for PI4KA Gene

Previous HGNC Symbols for PI4KA Gene

  • PIK4CA

Previous GeneCards Identifiers for PI4KA Gene

  • GC22M019391
  • GC22M021061
  • GC22M004329

Summaries for PI4KA Gene

Entrez Gene Summary for PI4KA Gene

  • This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

GeneCards Summary for PI4KA Gene

PI4KA (Phosphatidylinositol 4-Kinase Alpha) is a Protein Coding gene. Diseases associated with PI4KA include Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis and Polymicrogyria, Bilateral Perisylvian, X-Linked. Among its related pathways are Metabolism and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity.

UniProtKB/Swiss-Prot for PI4KA Gene

  • Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

Tocris Summary for PI4KA Gene

Gene Wiki entry for PI4KA Gene

Additional gene information for PI4KA Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI4KA Gene

Genomics for PI4KA Gene

GeneHancer (GH) Regulatory Elements for PI4KA Gene

Promoters and enhancers for PI4KA 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
GH22J020855 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 676.2 +1.5 1459 4.1 PKNOX1 FOXA2 CLOCK MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SNAP29 PI4KA LZTR1 SERPIND1 PI4KAP2 THAP7-AS1 MED15 DGCR8 ZDHHC8 TRMT2A
GH22J020916 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 17.9 -59.5 -59480 5.7 HNRNPUL1 PKNOX1 CLOCK MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CRKL LZTR1 MED15 TRMT2A SNAP29 SERPIND1 PI4KAP2 DGCR8 ZNF74 PPIL2
GH22J020947 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 22.7 -93.9 -93859 10.6 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX ARID4B YBX1 FEZF1 YY1 POLR2B GC22P020955 LZTR1 TRMT2A MED15 DGCR8 SERPIND1 CRKL SNAP29 PI4KA PPIL2
GH22J020748 Enhancer 1.1 FANTOM5 ENCODE 25.8 +109.2 109176 3.4 HDGF PKNOX1 SMAD1 BATF IRF4 RAD21 SCRT2 ZNF207 FOS ETV6 SERPIND1 SNAP29 PI4KA DGCR8 LOC100420177 TRMT2A LZTR1 RPL8P5 PPIL2 TMEM191A
GH22J020978 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.1 -122.1 -122147 5.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 LZTR1 ENSG00000272829 THAP7-AS1 LOC100420177 TRMT2A THAP7 PI4KAP2 ABHD17AP4 ENSG00000273342 ENSG00000273343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PI4KA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PI4KA gene promoter:
  • PPAR-gamma1
  • Nkx2-5
  • Hand1
  • E47
  • PPAR-gamma2
  • POU2F1a
  • POU2F1
  • RP58
  • YY1
  • Pax-4a

Genomic Locations for PI4KA Gene

Genomic Locations for PI4KA Gene
chr22:20,707,691-20,859,417
(GRCh38/hg38)
Size:
151,727 bases
Orientation:
Minus strand
chr22:21,061,979-21,213,705
(GRCh37/hg19)
Size:
151,727 bases
Orientation:
Minus strand

Genomic View for PI4KA Gene

Genes around PI4KA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PI4KA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PI4KA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PI4KA Gene

Proteins for PI4KA Gene

  • Protein details for PI4KA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42356-PI4KA_HUMAN
    Recommended name:
    Phosphatidylinositol 4-kinase alpha
    Protein Accession:
    P42356
    Secondary Accessions:
    • Q7Z625
    • Q9UPG2

    Protein attributes for PI4KA Gene

    Size:
    2102 amino acids
    Molecular mass:
    236830 Da
    Quaternary structure:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:23229899, PubMed:24417819, PubMed:26571211). Interacts with TMEM150A; regulating recruitment to the plasma membrane (PubMed:25608530).

    Three dimensional structures from OCA and Proteopedia for PI4KA Gene

    Alternative splice isoforms for PI4KA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PI4KA Gene

Post-translational modifications for PI4KA Gene

  • Ubiquitination at Lys1691, Lys1505, and Lys1019
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PI4KA Gene

Domains & Families for PI4KA Gene

Gene Families for PI4KA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PI4KA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42356

UniProtKB/Swiss-Prot:

PI4KA_HUMAN :
  • Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
Family:
  • Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
genes like me logo Genes that share domains with PI4KA: view

Function for PI4KA Gene

Molecular function for PI4KA Gene

UniProtKB/Swiss-Prot Function:
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Triton X-100, insensitive to inhibition by adenosine and inhibited by wortmannin (By similarity). Isoform 2 is activated by detergents such as Triton X-100 and inhibited by adenosine (PubMed:7961848). The PI4K complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:23229899, PubMed:26571211). Interaction with TMEM150A regulates PtdIns(4)P synthesis (PubMed:25608530).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=300 uM for ATP {ECO:0000269 PubMed:10101268};

Enzyme Numbers (IUBMB) for PI4KA Gene

Gene Ontology (GO) - Molecular Function for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004430 1-phosphatidylinositol 4-kinase activity TAS --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 14676841
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA,IDA 25327288
genes like me logo Genes that share ontologies with PI4KA: view

Phenotypes for PI4KA Gene

genes like me logo Genes that share phenotypes with PI4KA: view

Human Phenotype Ontology for PI4KA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PI4KA Gene

MGI Knock Outs for PI4KA:

Animal Model Products

miRNA for PI4KA Gene

miRTarBase miRNAs that target PI4KA

Clone Products

  • Addgene plasmids for PI4KA

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PI4KA Gene

Localization for PI4KA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PI4KA Gene

Cytoplasm. Cell membrane. Note=Localization to the plasma membrane is mediated by the PI4K complex and association with EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:23229899). Localization to the plasma membrane is regulated by TMEM150A (PubMed:25608530). {ECO:0000269 PubMed:23229899, ECO:0000269 PubMed:25608530}.

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 PI4KA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
golgi apparatus 5
nucleus 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA,IEA 23229899
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 23229899
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with PI4KA: view

Pathways & Interactions for PI4KA Gene

genes like me logo Genes that share pathways with PI4KA: view

Gene Ontology (GO) - Biological Process for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction NAS 7961848
GO:0016310 phosphorylation IDA,IEA 25327288
GO:0030036 actin cytoskeleton organization IBA --
GO:0039694 viral RNA genome replication IMP 19376974
genes like me logo Genes that share ontologies with PI4KA: view

No data available for SIGNOR curated interactions for PI4KA Gene

Drugs & Compounds for PI4KA Gene

(2) Drugs for PI4KA Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Wortmannin Experimental Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(3) Additional Compounds for PI4KA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with PI4KA: view

Transcripts for PI4KA Gene

Unigene Clusters for PI4KA Gene

Phosphatidylinositol 4-kinase, catalytic, alpha:
Representative Sequences:

Clone Products

  • Addgene plasmids for PI4KA

Alternative Splicing Database (ASD) splice patterns (SP) for PI4KA Gene

No ASD Table

Relevant External Links for PI4KA Gene

GeneLoc Exon Structure for
PI4KA
ECgene alternative splicing isoforms for
PI4KA

Expression for PI4KA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PI4KA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PI4KA Gene

This gene is overexpressed in Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for PI4KA Gene

This gene is overexpressed in Placenta (10.6), Peripheral blood mononuclear cells (9.3), Frontal cortex (8.4), and Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PI4KA Gene



Protein tissue co-expression partners for PI4KA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PI4KA Gene:

PI4KA

SOURCE GeneReport for Unigene cluster for PI4KA Gene:

Hs.529438

mRNA Expression by UniProt/SwissProt for PI4KA Gene:

P42356-PI4KA_HUMAN
Tissue specificity: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes.

Evidence on tissue expression from TISSUES for PI4KA Gene

  • Nervous system(4.7)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PI4KA Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • neck
  • pharynx
  • tongue
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PI4KA: view

Orthologs for PI4KA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PI4KA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PI4KA 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PI4KA 34 33
  • 90.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pi4ka 33
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Pi4ka 16 34 33
  • 89.29 (n)
oppossum
(Monodelphis domestica)
Mammalia PI4KA 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PI4KA 34 33
  • 87.19 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves PI4KA 34 33
  • 79.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PI4KA 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pi4ka 33
  • 76.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23876 33
zebrafish
(Danio rerio)
Actinopterygii pi4kab 34
  • 77 (a)
OneToMany
pi4kaa 34 33
  • 75.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010801 33
  • 56.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta PI4KIIIalpha 34 33
  • 55.36 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y75B8A.24 33
  • 49.2 (n)
Y75B8A.24 34
  • 38 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT4 36 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATPI4K ALPHA 33
  • 43.21 (n)
rice
(Oryza sativa)
Liliopsida Os03g0711200 33
  • 47.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
Species where no ortholog for PI4KA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PI4KA Gene

ENSEMBL:
Gene Tree for PI4KA (if available)
TreeFam:
Gene Tree for PI4KA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PI4KA: view image

Paralogs for PI4KA Gene

(4) SIMAP similar genes for PI4KA Gene using alignment to 4 proteins:

  • PI4KA_HUMAN
  • A8MTF1_HUMAN
  • C9JLI1_HUMAN
  • J3KN10_HUMAN

Pseudogenes.org Pseudogenes for PI4KA Gene

genes like me logo Genes that share paralogs with PI4KA: view

No data available for Paralogs for PI4KA Gene

Variants for PI4KA Gene

Sequence variations from dbSNP and Humsavar for PI4KA Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1061063 benign, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, not specified 20,859,092(-) C/T upstream_transcript_variant
rs1061064 benign, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, not specified 20,859,128(-) A/G upstream_transcript_variant
rs116644127 likely-benign, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, not specified 20,859,240(-) T/C upstream_transcript_variant
rs117593372 likely-benign, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 20,859,043(-) A/T upstream_transcript_variant
rs121912420 pathogenic, Heparin cofactor II deficiency 20,786,951(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PI4KA Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv26322 CNV gain+loss 19812545
esv2667832 CNV deletion 23128226
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3329090 CNV duplication 20981092
esv3568281 CNV loss 25503493
esv3647302 CNV loss 21293372
esv3647303 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062466 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv1136657 CNV deletion 24896259
nsv436864 CNV insertion 17901297
nsv471533 CNV gain 19718026
nsv518753 CNV loss 19592680
nsv523162 CNV loss 19592680
nsv588298 CNV gain 21841781
nsv588305 CNV loss 21841781
nsv834140 CNV loss 17160897
nsv962760 CNV duplication 23825009
nsv979640 CNV duplication 23825009

Variation tolerance for PI4KA Gene

Residual Variation Intolerance Score: 0.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PI4KA Gene

Human Gene Mutation Database (HGMD)
PI4KA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PI4KA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PI4KA Gene

Disorders for PI4KA Gene

MalaCards: The human disease database

(9) MalaCards diseases for PI4KA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
  • pmgycha
polymicrogyria, bilateral perisylvian, x-linked
  • bppx
cerebellar hypoplasia
  • cerebellar hypoplasia-tapetoretinal degeneration syndrome
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • cednik syndrome
heparin cofactor ii deficiency
  • thrombophilia due to heparin cofactor ii deficiency; thph10
- elite association - COSMIC cancer census association via MalaCards
Search PI4KA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PI4KA_HUMAN
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA) [MIM:616531]: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers. {ECO:0000269 PubMed:25855803}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PI4KA

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 PI4KA: view

No data available for Genatlas for PI4KA Gene

Publications for PI4KA Gene

  1. Cloning and characterization of a human phosphatidylinositol 4-kinase. (PMID: 7961848) Wong K … Cantley LC (The Journal of biological chemistry 1994) 2 3 4 22 58
  2. Functional expression and characterisation of a new human phosphatidylinositol 4-kinase PI4K230. (PMID: 10101268) Gehrmann T … Heilmeyer LM (Biochimica et biophysica acta 1999) 3 4 22 58
  3. Architecture of the human PI4KIIIα lipid kinase complex. (PMID: 29229838) Lees JA … Reinisch KM (Proceedings of the National Academy of Sciences of the United States of America 2017) 2 3 58
  4. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. (PMID: 26571211) Baskin JM … De Camilli P (Nature cell biology 2016) 3 4 58
  5. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. (PMID: 25855803) Pagnamenta AT … Kini U (Human molecular genetics 2015) 3 4 58

Products for PI4KA Gene

Sources for PI4KA Gene

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