Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] See more...

Aliases for PI4K2A Gene

Aliases for PI4K2A Gene

  • Phosphatidylinositol 4-Kinase Type 2 Alpha 2 3 5
  • Phosphatidylinositol 4-Kinase Type II-Alpha 3 4
  • Phosphatidylinositol 4-Kinase Type 2-Alpha 3 4
  • EC 2.7.1.67 4 52
  • Phosphatidylinositol 4-Kinase Type II (PI4KII) 3
  • PI4KII 3
  • PIK42A 3

External Ids for PI4K2A Gene

Previous GeneCards Identifiers for PI4K2A Gene

  • GC10P099391
  • GC10P099344
  • GC10P093026
  • GC10P099400

Summaries for PI4K2A Gene

Entrez Gene Summary for PI4K2A Gene

  • Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

GeneCards Summary for PI4K2A Gene

PI4K2A (Phosphatidylinositol 4-Kinase Type 2 Alpha) is a Protein Coding gene. Diseases associated with PI4K2A include Hermansky-Pudlak Syndrome and Hereditary Spastic Paraplegia. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is ENSG00000249967.

UniProtKB/Swiss-Prot Summary for PI4K2A Gene

  • Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3).

Gene Wiki entry for PI4K2A Gene

Additional gene information for PI4K2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PI4K2A Gene

Genomics for PI4K2A Gene

GeneHancer (GH) Regulatory Elements for PI4K2A Gene

Promoters and enhancers for PI4K2A 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 PI4K2A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PI4K2A

Top Transcription factor binding sites by QIAGEN in the PI4K2A gene promoter:
  • Egr-4
  • FOXO1
  • FOXO1a
  • Gfi-1
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9
  • Spz1

Genomic Locations for PI4K2A Gene

Genomic Locations for PI4K2A Gene
chr10:97,640,686-97,676,434
(GRCh38/hg38)
Size:
35,749 bases
Orientation:
Plus strand
chr10:99,344,131-99,436,191
(GRCh37/hg19)
Size:
92,061 bases
Orientation:
Plus strand

Genomic View for PI4K2A Gene

Genes around PI4K2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PI4K2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PI4K2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PI4K2A Gene

Proteins for PI4K2A Gene

  • Protein details for PI4K2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTU6-P4K2A_HUMAN
    Recommended name:
    Phosphatidylinositol 4-kinase type 2-alpha
    Protein Accession:
    Q9BTU6
    Secondary Accessions:
    • D3DR59
    • Q9NSG8

    Protein attributes for PI4K2A Gene

    Size:
    479 amino acids
    Molecular mass:
    54022 Da
    Quaternary structure:
    • Associates with the BLOC-1 and the AP-3 complexes; the BLOC-1 complex is required for optimal binding of PI4K2A to the AP-3 complex. Interacts with BLOC1S5 and DTNBP1 (PubMed:21998198). Interacts with FOS; this interaction may enhance phosphatidylinositol phosphorylation activity (By similarity). Interacts with ITCH (PubMed:23146885).

    Three dimensional structures from OCA and Proteopedia for PI4K2A Gene

neXtProt entry for PI4K2A Gene

Selected DME Specific Peptides for PI4K2A Gene

Q9BTU6:
  • VMRGQILNL
  • LNIVPRTKVV
  • RIGLPPK
  • IRNTDRGNDNWL
  • FEAEPLPEN
  • KHPDSWR
  • AAIDNGL
  • YKDADYWLRRFEA
  • ASLVDQKL
  • CCPCCFGR
  • GSSGSYFV
  • LNPKWTK
  • EDLYELFK
  • WAWLPQAK
  • SESYTQSFQSR
  • ALEKVPKV

Post-translational modifications for PI4K2A Gene

  • Palmitoylated by ZDHHC3 and ZDHHC7 in the CCPCC motif. Palmitoylation is cholesterol-dependent, and required for TGN localization.
  • Ubiquitinated by ITCH; this does not lead to proteasomal degradation.
  • Ubiquitination at Lys141, Lys165, and Lys336
  • Modification sites at PhosphoSitePlus

Other Protein References for PI4K2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PI4K2A Gene

Gene Families for PI4K2A Gene

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

Protein Domains for PI4K2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PI4K2A Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol 4-kinase type II-alpha (P4K2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTU6

UniProtKB/Swiss-Prot:

P4K2A_HUMAN :
  • Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
Family:
  • Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
genes like me logo Genes that share domains with PI4K2A: view

Function for PI4K2A Gene

Molecular function for PI4K2A Gene

UniProtKB/Swiss-Prot Function:
Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = 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:11279162, ECO:0000269 PubMed:20388919, ECO:0000269 PubMed:24675427, ECO:0000269 PubMed:25168678};.

Enzyme Numbers (IUBMB) for PI4K2A Gene

Phenotypes From GWAS Catalog for PI4K2A Gene

Gene Ontology (GO) - Molecular Function for PI4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding NAS 11279162
GO:0004430 1-phosphatidylinositol 4-kinase activity IDA 11279162
GO:0005515 protein binding IPI 21998198
GO:0005524 ATP binding IDA,IEA 24675427
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PI4K2A: view
genes like me logo Genes that share phenotypes with PI4K2A: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PI4K2A Gene

Localization for PI4K2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PI4K2A Gene

Golgi apparatus, trans-Golgi network membrane; Lipid-anchor. Membrane raft. Cell projection, dendrite. Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, synaptosome. Mitochondrion. Endosome. Cytoplasmic vesicle. Membrane; Lipid-anchor. Cell membrane. Perikaryon. Cell projection, neuron projection. Note=Found in subdomains of the plasma membrane termed non-caveolar membrane rafts. Transported from neuronal cell body to neuron projections and neurite tips in a BLOC-1- and AP-3-complexes-dependent manner. {ECO:0000250 UniProtKB:Q2TBE6}.

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 PI4K2A gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
endosome 4
cytosol 4
golgi apparatus 4
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PI4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IBA,ISS --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IBA 21873635
genes like me logo Genes that share ontologies with PI4K2A: view

Pathways & Interactions for PI4K2A Gene

genes like me logo Genes that share pathways with PI4K2A: view

SIGNOR curated interactions for PI4K2A Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PI4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS,IDA --
GO:0007030 Golgi organization IBA 21873635
GO:0007032 endosome organization IBA 21873635
GO:0016310 phosphorylation IEA --
GO:0046854 phosphatidylinositol phosphorylation IDA 25168678
genes like me logo Genes that share ontologies with PI4K2A: view

Drugs & Compounds for PI4K2A Gene

(1) Drugs for PI4K2A Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist, Channel blocker, agonist 642

(2) Additional Compounds for PI4K2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PI4K2A: view

Transcripts for PI4K2A Gene

mRNA/cDNA for PI4K2A Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PI4K2A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3: - - - - -

Relevant External Links for PI4K2A Gene

GeneLoc Exon Structure for
PI4K2A

Expression for PI4K2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PI4K2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PI4K2A Gene

This gene is overexpressed in Nasal epithelium (38.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PI4K2A Gene



Protein tissue co-expression partners for PI4K2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PI4K2A

SOURCE GeneReport for Unigene cluster for PI4K2A Gene:

Hs.25300

mRNA Expression by UniProt/SwissProt for PI4K2A Gene:

Q9BTU6-P4K2A_HUMAN
Tissue specificity: Widely expressed. Highest expression is observed in kidney, brain, heart, skeletal muscle, and placenta and lowest expression is observed in colon, thymus, and small intestine.

Evidence on tissue expression from TISSUES for PI4K2A Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Skin(4.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PI4K2A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PI4K2A Gene

Orthologs for PI4K2A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PI4K2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PI4K2A 31 30
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PI4K2A 31 30
  • 93.32 (n)
OneToMany
dog
(Canis familiaris)
Mammalia PI4K2A 31 30
  • 93.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pi4k2a 17 31 30
  • 91.93 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pi4k2a 30
  • 90.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 89 (a)
OneToMany
PI4K2A 30
  • 79.07 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pi4k2a 30
  • 72.71 (n)
zebrafish
(Danio rerio)
Actinopterygii pi4k2a 31 30
  • 74.15 (n)
OneToMany
Dr.4629 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12470 30
fruit fly
(Drosophila melanogaster)
Insecta Pi4KIIalpha 31 30
  • 65.28 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003121 30
  • 65.16 (n)
worm
(Caenorhabditis elegans)
Secernentea ZC8.6 31 30
  • 57.18 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSB6 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2475 31
  • 60 (a)
OneToMany
Species where no ortholog for PI4K2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for PI4K2A Gene

ENSEMBL:
Gene Tree for PI4K2A (if available)
TreeFam:
Gene Tree for PI4K2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PI4K2A: view image

Paralogs for PI4K2A Gene

Paralogs for PI4K2A Gene

(2) SIMAP similar genes for PI4K2A Gene using alignment to 2 proteins:

  • P4K2A_HUMAN
  • E9PAM4_HUMAN
genes like me logo Genes that share paralogs with PI4K2A: view

Variants for PI4K2A Gene

Additional dbSNP identifiers (rs#s) for PI4K2A Gene

Structural Variations from Database of Genomic Variants (DGV) for PI4K2A Gene

Variant ID Type Subtype PubMed ID
esv2669995 CNV deletion 23128226
esv2739906 CNV deletion 23290073
esv3546729 CNV deletion 23714750
esv3624319 CNV loss 21293372
nsv1045292 CNV gain 25217958
nsv1110852 OTHER inversion 24896259

Variation tolerance for PI4K2A Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PI4K2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PI4K2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PI4K2A Gene

Disorders for PI4K2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for PI4K2A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PI4K2A

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 PI4K2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PI4K2A Gene

Publications for PI4K2A Gene

  1. Cloning of a human type II phosphatidylinositol 4-kinase reveals a novel lipid kinase family. (PMID: 11279162) Minogue S … Hsuan JJ (The Journal of biological chemistry 2001) 2 3 4 54
  2. Molecular insights into the membrane-associated phosphatidylinositol 4-kinase IIα. (PMID: 24675427) Zhou Q … Chen C (Nature communications 2014) 3 4 54
  3. The crystal structure of the phosphatidylinositol 4-kinase IIα. (PMID: 25168678) Baumlova A … Boura E (EMBO reports 2014) 3 4 54
  4. Phosphatidylinositol 4-kinase IIα function at endosomes is regulated by the ubiquitin ligase Itch. (PMID: 23146885) Mössinger J … Haucke V (EMBO reports 2012) 3 4 54
  5. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. (PMID: 21998198) Larimore J … Faundez V (Molecular biology of the cell 2011) 3 4 54

Products for PI4K2A Gene

Sources for PI4K2A Gene