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Aliases for PI4K2A Gene

Aliases for PI4K2A Gene

  • Phosphatidylinositol 4-Kinase Type 2 Alpha 2 3
  • Phosphatidylinositol 4-Kinase Type II-Alpha 3 4
  • EC 2.7.1.67 4 63
  • 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. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include protein complex binding and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is ENSG00000249967.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI4K2A Gene

Genomics for PI4K2A Gene

Regulatory Elements for PI4K2A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PI4K2A Gene

Chromosome:
10
Start:
97,640,686 bp from pter
End:
97,676,434 bp from pter
Size:
35,749 bases
Orientation:
Plus strand

Genomic View for PI4K2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PI4K2A Gene at MOPED

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 Lys 141, Lys 165, and Lys 336
  • Modification sites at PhosphoSitePlus

Other Protein References for PI4K2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PI4K2A Gene

Protein Domains for PI4K2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PI4K2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BTU6

UniProtKB/Swiss-Prot:

P4K2A_HUMAN :
  • Contains 1 PI3K/PI4K domain.
  • Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
Domain:
  • Contains 1 PI3K/PI4K domain.
Family:
  • Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
genes like me logo Genes that share domains with PI4K2A: view

No data available for Gene Families for PI4K2A Gene

Function for PI4K2A Gene

Molecular function for PI4K2A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate.
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).

Enzyme Numbers (IUBMB) 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 24675427
GO:0016773 phosphotransferase activity, alcohol group as acceptor --
genes like me logo Genes that share ontologies with PI4K2A: view
genes like me logo Genes that share phenotypes with PI4K2A: view

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PI4K2A

In Situ Assay Products

Flow Cytometry Products

No data available for 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. Note=Localized in neuronal cell body. Transported from neuronal cell body to neuron projections in a BLOC-1- and AP-3-complexes-dependent manner. Enriched in neurite tips and neuron projections in a BLOC-1- and AP-3-complexes-dependent manner (By similarity). Found in subdomains of the plasma membrane termed non-caveolar membrane rafts. {ECO:0000250 UniProtKB:Q2TBE6, ECO:0000250 UniProtKB:Q99M64}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PI4K2A Gene COMPARTMENTS Subcellular localization image for PI4K2A gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
endosome 4
mitochondrion 4
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for PI4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome ISS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
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:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046854 phosphatidylinositol phosphorylation IDA 25168678
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
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 Channel blocker, agonist 340

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

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

Transcripts for PI4K2A Gene

mRNA/cDNA for PI4K2A Gene

Unigene Clusters for PI4K2A Gene

Phosphatidylinositol 4-kinase type 2 alpha:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PI4K2A

Flow Cytometry 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
ECgene alternative splicing isoforms for
PI4K2A

Expression for PI4K2A Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PI4K2A Gene



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.
genes like me logo Genes that share expression patterns with PI4K2A: view

Protein tissue co-expression partners for PI4K2A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PI4K2A 35
  • 93.32 (n)
  • 97.91 (a)
PI4K2A 36
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PI4K2A 35
  • 93.04 (n)
  • 96.87 (a)
PI4K2A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pi4k2a 35
  • 91.93 (n)
  • 95.41 (a)
Pi4k2a 16
Pi4k2a 36
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PI4K2A 35
  • 99.58 (n)
  • 100 (a)
PI4K2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pi4k2a 35
  • 90.66 (n)
  • 93.31 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves PI4K2A 35
  • 79.07 (n)
  • 88.17 (a)
-- 36
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pi4k2a 35
  • 72.71 (n)
  • 84.96 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.4629 35
pi4k2a 35
  • 74.15 (n)
  • 82.77 (a)
pi4k2a 36
  • 81 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12470 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003121 35
  • 65.16 (n)
  • 70.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pi4KIIalpha 35
  • 65.28 (n)
  • 68.06 (a)
Pi4KIIalpha 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC8.6 35
  • 57.18 (n)
  • 57.75 (a)
ZC8.6 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSB6 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2475 36
  • 60 (a)
OneToMany
Species with no ortholog for PI4K2A:
  • 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)

Paralogs for PI4K2A Gene

Paralogs for PI4K2A Gene

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

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

Variants for PI4K2A Gene

Sequence variations from dbSNP and Humsavar for PI4K2A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1046198 -- 97,674,517(+) AATAG(A/G)AAGTT utr-variant-3-prime
rs1046221 -- 97,675,730(+) AGGAG(A/C)GAGCT utr-variant-3-prime
rs1046237 -- 97,675,872(+) TTCTG(A/C/G/T)GTGGC utr-variant-3-prime
rs1046249 -- 97,675,973(+) GTGTC(A/G)TTCTT utr-variant-3-prime
rs1052212 -- 97,673,851(+) AAGAG(C/T)CCTCT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2739906 CNV Deletion 23290073
esv2669995 CNV Deletion 23128226

Variation tolerance for PI4K2A Gene

Residual Variation Intolerance Score: 40.95% 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)

Relevant External Links for PI4K2A Gene

HapMap Linkage Disequilibrium report
PI4K2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PI4K2A Gene

Disorders for PI4K2A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • platelet storage pool deficiency
- elite association

Relevant External Links for PI4K2A

Genetic Association Database (GAD)
PI4K2A
Human Genome Epidemiology (HuGE) Navigator
PI4K2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PI4K2A
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. Acetyl-Ile-Gly-Leu protects neurons from Abeta(1-42) induced toxicity in vitro and in V337M human tau-expressing mice. (PMID: 19087881) Xiong Z.M. … Inagaki C. (Life Sci. 2009) 23 67
  2. Tetraspanin CD81-regulated cell motility plays a critical role in intrahepatic metastasis of hepatocellular carcinoma. (PMID: 18466772) Mazzocca A. … Carloni V. (Gastroenterology 2008) 23 67
  3. Protective effects of Abeta-derived tripeptide, Abeta(32-34), on Abeta(1-42)-induced phosphatidylinositol 4-kinase inhibition and neurotoxicity. (PMID: 17499922) Xiong Z.M. … Inagaki C. (Neurosci. Lett. 2007) 23 67
  4. Attenuation of amyloid beta (Abeta)-induced inhibition of phosphatidylinositol 4-kinase activity by Abeta fragments, Abeta20-29 and Abeta31-35. (PMID: 16356635) Wu B. … Inagaki C. (Neurosci. Lett. 2006) 23 67
  5. Pathophysiological concentrations of amyloid beta proteins directly inhibit rat brain and recombinant human type II phosphatidylinositol 4-kinase activity. (PMID: 15569259) Wu B. … Inagaki C. (J. Neurochem. 2004) 23 67

Products for PI4K2A Gene

Sources for PI4K2A Gene

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