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 inhibi... See more...

Aliases for PI4KA Gene

Aliases for PI4KA Gene

  • Phosphatidylinositol 4-Kinase Alpha 2 3 4 5
  • Phosphatidylinositol 4-Kinase III Alpha 2 3 4
  • Phosphatidylinositol 4-Kinase, Catalytic, Alpha 2 3
  • PtdIns-4-Kinase Alpha 3 4
  • PI4-Kinase Alpha 3 4
  • EC 2.7.1.67 4 50
  • PI4K-ALPHA 2 3
  • Pi4K230 2 3
  • 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
  • PI4K-Alpha 4
  • PMGYCHA 3
  • PI4KA 5
  • 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 Heparin Cofactor Ii Deficiency. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PI4KB.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PI4KA Gene

Genomics for PI4KA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PI4KA 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 PI4KA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PI4KA

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

Genomic Locations for PI4KA Gene

Latest Assembly
chr22:20,707,691-20,859,417
(GRCh38/hg38)
Size:
151,727 bases
Orientation:
Minus strand

Previous Assembly
chr22:21,061,979-21,213,099
(GRCh37/hg19 by Entrez Gene)
Size:
151,121 bases
Orientation:
Minus strand

chr22:21,061,979-21,213,705
(GRCh37/hg19 by Ensembl)
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).
    • (Microbial infection) Interacts with CHKA/Choline Kinase-alpha; CHKA bridges PI4KA and hepatitis C virus (HCV) non-structural protein 5A (NS5A) and potentiates NS5A-stimulated PI4KA activity, which then facilitates the targeting of the ternary complex to the ER for viral replication.

    Three dimensional structures from OCA and Proteopedia for PI4KA Gene

    Alternative splice isoforms for PI4KA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PI4KA Gene

Selected DME Specific Peptides for PI4KA Gene

P42356:
  • GHIIHIDFGF
  • KDRHNGN

Post-translational modifications for PI4KA Gene

  • Ubiquitination at Lys1563, Lys1749, and Lys1077
  • Modification sites at PhosphoSitePlus

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

Protein Domains for PI4KA Gene

Suggested Antigen Peptide Sequences for PI4KA Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol 4-kinase alpha (PI4KA_HUMAN)

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:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ADP + H(+); Xref=Rhea:RHEA:19877, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57880, ChEBI:CHEBI:58178, ChEBI:CHEBI:456216; EC=2.7.1.67; Evidence={ECO:0000269|PubMed:10101268};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=300 uM for ATP {ECO:0000269|PubMed:10101268};
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).

Enzyme Numbers (IUBMB) for PI4KA Gene

Phenotypes From GWAS Catalog for PI4KA Gene

Gene Ontology (GO) - Molecular Function for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004430 1-phosphatidylinositol 4-kinase activity IBA,ISS --
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

MGI mutant phenotypes for PI4KA:
inferred from 7 alleles
GenomeRNAi human phenotypes for PI4KA:
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:
  • Pi4ka Pi4ka<tm1b(EUCOMM)Wtsi>
  • Pi4ka Pi4ka<tm1.2Pdc>

miRNA for PI4KA Gene

miRTarBase miRNAs that target PI4KA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PI4KA

No data available for 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
cytosol 5
extracellular 4
nucleus 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 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:0005737 cytoplasm IBA,IDA 23229899
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,IDA 23229899
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane IBA 21873635
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 IEA,IDA 25327288
GO:0039694 viral RNA genome replication IMP 19376974
GO:0044803 multi-organism membrane organization 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 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with PI4KA: view

Transcripts for PI4KA Gene

mRNA/cDNA for PI4KA Gene

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

Inhibitory RNAs for research

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

Expression for PI4KA Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Kidney(2.5)
  • Pancreas(2.2)
  • Skin(2.2)
  • Intestine(2.1)
  • Lung(2)

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

Primer products for research

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 29 30
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PI4KA 29 30
  • 90.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pi4ka 29
  • 89.35 (n)
Mouse
(Mus musculus)
Mammalia Pi4ka 29 16 30
  • 89.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PI4KA 30
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PI4KA 29 30
  • 87.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 62 (a)
OneToMany
Chicken
(Gallus gallus)
Aves PI4KA 29 30
  • 79.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PI4KA 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pi4ka 29
  • 76.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23876 29
Zebrafish
(Danio rerio)
Actinopterygii pi4kab 30
  • 77 (a)
OneToMany
pi4kaa 29 30
  • 75.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010801 29
  • 56.07 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta PI4KIIIalpha 29 30
  • 55.36 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y75B8A.24 29
  • 49.2 (n)
Y75B8A.24 30
  • 38 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT4 30 32
  • 25 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ATPI4K ALPHA 29
  • 43.21 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0711200 29
  • 47.92 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 56 (a)
OneToMany
-- 30
  • 45 (a)
OneToMany
Species where no ortholog for PI4KA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for PI4KA

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

Variants for PI4KA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PI4KA Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
1030110 Uncertain Significance: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 20,807,454(-) T/C
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser)
MISSENSE
1030111 Uncertain Significance: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 20,820,567(-) C/A
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile)
MISSENSE
1030112 Pathogenic: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 20,711,443(-) G/A
NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter)
NONSENSE
1030113 Pathogenic: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 20,710,764(-) G/GCC
NM_058004.4(PI4KA):c.6016_6017dup (p.Lys2007fs)
FRAMESHIFT
1032241 Pathogenic: Heparin cofactor II deficiency 20,783,971(-) G/A
NM_000185.4(SERPIND1):c.890-1G>A
SPLICE_ACCEPTOR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PI4KA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
PI4KA

SNP Genotyping and Copy Number Assays for research

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

Disorders for PI4KA Gene

MalaCards: The human disease database

(17) MalaCards diseases for PI4KA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
  • pmgycha
heparin cofactor ii deficiency
  • thrombophilia due to heparin cofactor ii deficiency; thph10
polymicrogyria, bilateral perisylvian, x-linked
  • bppx
cerebellar hypoplasia
hepatitis c virus
  • hepatitis c virus, susceptibility to
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for PI4KA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. 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 72
  3. 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
  4. Hepatitis C Virus Subverts Human Choline Kinase-α To Bridge Phosphatidylinositol-4-Kinase IIIα (PI4KIIIα) and NS5A and Upregulates PI4KIIIα Activation, Thereby Promoting the Translocation of the Ternary Complex to the Endoplasmic Reticulum for Viral Replication. (PMID: 28566381) Wong MT … Chen SS (Journal of virology 2017) 3 4
  5. 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

Products for PI4KA Gene

Sources for PI4KA Gene