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Aliases for PIP4K2A Gene

Aliases for PIP4K2A Gene

  • Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha 2 3
  • Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Alpha 2 3 5
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type II, Alpha 2 3
  • Phosphatidylinositol 5-Phosphate 4-Kinase Type II Alpha 3 4
  • 1-Phosphatidylinositol 5-Phosphate 4-Kinase 2-Alpha 3 4
  • PtdIns(5)P-4-Kinase Isoform 2-Alpha 3 4
  • Diphosphoinositide Kinase 2-Alpha 3 4
  • PtdIns(4)P-5-Kinase C Isoform 3 4
  • PI(5)P 4-Kinase Type II Alpha 3 4
  • PtdIns(4)P-5-Kinase B Isoform 3 4
  • PIP4KII-Alpha 3 4
  • EC 2.7.1.149 4 63
  • PIP5KIII 3 4
  • PIP5K2A 3 4
  • Type II Phosphatidylinositol-4-Phosphate 5-Kinase 53 K Isoform 3
  • Phosphatidylinositol-5-Phosphate 4-Kinase Type-2 Alpha 3
  • 1-Phosphatidylinositol-5-Phosphate 4-Kinase 2-Alpha 3
  • 1-Phosphatidylinositol-4-Phosphate-5-Kinase 3
  • 1-Phosphatidylinositol-4-Phosphate Kinase 3
  • PIP5KII-Alpha 3
  • PIP5KIIalpha 3
  • PIP5KIIA 3
  • EC 2.7.1 63
  • PI5P4KA 3
  • PIP5K2 4
  • PIPK 3

External Ids for PIP4K2A Gene

Previous HGNC Symbols for PIP4K2A Gene

  • PIP5K2A

Previous GeneCards Identifiers for PIP4K2A Gene

  • GC10M022866
  • GC10M022823

Summaries for PIP4K2A Gene

Entrez Gene Summary for PIP4K2A Gene

  • Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIP4K2A Gene

PIP4K2A (Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha) is a Protein Coding gene. Diseases associated with PIP4K2A include precursor b-cell acute lymphoblastic leukemia and schizophrenia. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include phosphatidylinositol phosphate kinase activity and 1-phosphatidylinositol-5-phosphate 4-kinase activity. An important paralog of this gene is PIP4K2B.

UniProtKB/Swiss-Prot for PIP4K2A Gene

  • Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P. May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size.

Gene Wiki entry for PIP4K2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP4K2A Gene

Genomics for PIP4K2A Gene

Regulatory Elements for PIP4K2A Gene

Promoters for PIP4K2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIP4K2A on UCSC Golden Path with GeneCards custom track

Genomic Location for PIP4K2A Gene

Chromosome:
10
Start:
22,534,837 bp from pter
End:
22,714,574 bp from pter
Size:
179,738 bases
Orientation:
Minus strand

Genomic View for PIP4K2A Gene

Genes around PIP4K2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP4K2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP4K2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP4K2A Gene

Proteins for PIP4K2A Gene

  • Protein details for PIP4K2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48426-PI42A_HUMAN
    Recommended name:
    Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
    Protein Accession:
    P48426
    Secondary Accessions:
    • B0YJ66
    • B4DGX2
    • D3DRV1
    • P53807
    • Q5VUX3

    Protein attributes for PIP4K2A Gene

    Size:
    406 amino acids
    Molecular mass:
    46225 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with PIP4K2B. Interaction with PIP4K2B may regulate localization to the nucleus.

    Three dimensional structures from OCA and Proteopedia for PIP4K2A Gene

    Alternative splice isoforms for PIP4K2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP4K2A Gene

Proteomics data for PIP4K2A Gene at MOPED

Post-translational modifications for PIP4K2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIP4K2A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIP4K2A (PIP4K2A)

Domains & Families for PIP4K2A Gene

Graphical View of Domain Structure for InterPro Entry

P48426

UniProtKB/Swiss-Prot:

PI42A_HUMAN :
  • Contains 1 PIPK domain.
Domain:
  • Contains 1 PIPK domain.
genes like me logo Genes that share domains with PIP4K2A: view

No data available for Gene Families for PIP4K2A Gene

Function for PIP4K2A Gene

Molecular function for PIP4K2A Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=50 uM for phosphatidylinositol-5- phosphate {ECO:0000269 PubMed:20583997}; Vmax=466 pmol/min/ug enzyme {ECO:0000269 PubMed:20583997};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P. May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size.

Enzyme Numbers (IUBMB) for PIP4K2A Gene

Gene Ontology (GO) - Molecular Function for PIP4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity NAS 7639683
genes like me logo Genes that share ontologies with PIP4K2A: view
genes like me logo Genes that share phenotypes with PIP4K2A: view

Animal Models for PIP4K2A Gene

MGI Knock Outs for PIP4K2A:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIP4K2A Gene

Localization for PIP4K2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP4K2A Gene

Cell membrane. Nucleus. Cytoplasm. Note=May translocate from the cytosol to the cell membrane upon activation of tyrosine phosphorylation. May translocate from the inner to the outer segments of the rod photoreceptor cells in response to light (By similarity). Localization to the nucleus is modulated by the interaction with PIP4K2B. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIP4K2A Gene COMPARTMENTS Subcellular localization image for PIP4K2A gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
vacuole 3
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for PIP4K2A Gene

Pathways & Interactions for PIP4K2A Gene

SuperPathways for PIP4K2A Gene

genes like me logo Genes that share pathways with PIP4K2A: view

SIGNOR curated interactions for PIP4K2A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIP4K2A 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 --
genes like me logo Genes that share ontologies with PIP4K2A: view

Drugs & Compounds for PIP4K2A Gene

(1) Drugs for PIP4K2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(4) Additional Compounds for PIP4K2A 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
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PIP4K2A: view

Transcripts for PIP4K2A Gene

Unigene Clusters for PIP4K2A Gene

Phosphatidylinositol-5-phosphate 4-kinase, type II, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIP4K2A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: - - - - -
SP3:
SP4:

Relevant External Links for PIP4K2A Gene

GeneLoc Exon Structure for
PIP4K2A
ECgene alternative splicing isoforms for
PIP4K2A

Expression for PIP4K2A Gene

mRNA expression in normal human tissues for PIP4K2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIP4K2A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.6) and Brain - Substantia nigra (x4.8).

Protein differential expression in normal tissues from HIPED for PIP4K2A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.7), Lymph node (9.8), and Platelet (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIP4K2A Gene



SOURCE GeneReport for Unigene cluster for PIP4K2A Gene Hs.57079

mRNA Expression by UniProt/SwissProt for PIP4K2A Gene

P48426-PI42A_HUMAN
Tissue specificity: Expressed ubiquitously, with high levels in the brain. Present in most tissues, except notably skeletal muscle and small intestine.
genes like me logo Genes that share expression patterns with PIP4K2A: view

Protein tissue co-expression partners for PIP4K2A Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PIP4K2A Gene

This gene was present in the common ancestor of animals.

Orthologs for PIP4K2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIP4K2A 35
  • 92.59 (n)
  • 99.26 (a)
PIP4K2A 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIP4K2A 35
  • 91.79 (n)
  • 100 (a)
-- 36
  • 100 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pip4k2a 35
  • 89.47 (n)
  • 98.27 (a)
Pip4k2a 16
Pip4k2a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIP4K2A 35
  • 99.9 (n)
  • 100 (a)
PIP4K2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip4k2a 35
  • 87.93 (n)
  • 97.54 (a)
oppossum
(Monodelphis domestica)
Mammalia PIP4K2A 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIP4K2A 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIP4K2A 35
  • 84.53 (n)
  • 93.58 (a)
PIP4K2A 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIP4K2A 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip4k2b 35
  • 80.94 (n)
  • 93.2 (a)
zebrafish
(Danio rerio)
Actinopterygii pip4k2aa 35
  • 76.84 (n)
  • 87.59 (a)
pip4k2aa 36
  • 87 (a)
OneToMany
pip4k2ab 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17471 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ppk-2 36
  • 52 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7002 36
  • 55 (a)
OneToMany
Species with no ortholog for PIP4K2A:
  • 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)
  • 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 PIP4K2A Gene

ENSEMBL:
Gene Tree for PIP4K2A (if available)
TreeFam:
Gene Tree for PIP4K2A (if available)

Paralogs for PIP4K2A Gene

Paralogs for PIP4K2A Gene

(6) SIMAP similar genes for PIP4K2A Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PIP4K2A: view

Variants for PIP4K2A Gene

Sequence variations from dbSNP and Humsavar for PIP4K2A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_024565 -
rs11813789 - 22,714,308(+) CCCTA(G/T)GTTGC upstream-variant-2KB, reference, missense
rs1158 -- 22,536,359(-) GGAGC(C/T)TTCAT utr-variant-3-prime
rs1159 -- 22,536,424(-) TCTCT(A/C/G)TACAT utr-variant-3-prime
rs8341 -- 22,536,204(-) TTACC(A/G)AATGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PIP4K2A Gene

Variant ID Type Subtype PubMed ID
esv272641 CNV Insertion 20981092
esv2661976 CNV Deletion 23128226
nsv831809 CNV Gain 17160897
esv2733984 CNV Deletion 23290073
esv2659118 CNV Deletion 23128226

Variation tolerance for PIP4K2A Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.46; 82.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIP4K2A Gene

HapMap Linkage Disequilibrium report
PIP4K2A
Human Gene Mutation Database (HGMD)
PIP4K2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP4K2A Gene

Disorders for PIP4K2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIP4K2A Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precursor b-cell acute lymphoblastic leukemia
  • b-all
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PIP4K2A

Genetic Association Database (GAD)
PIP4K2A
Human Genome Epidemiology (HuGE) Navigator
PIP4K2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIP4K2A
genes like me logo Genes that share disorders with PIP4K2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIP4K2A Gene

Publications for PIP4K2A Gene

  1. A new pathway for synthesis of phosphatidylinositol-4,5- bisphosphate. (PMID: 9367159) Rameh L.E. … Cantley L.C. (Nature 1997) 2 3 4 67
  2. Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS). (PMID: 19475563) Thiselton D.L. … Riley B.P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  3. PIP5K2A-dependent regulation of excitatory amino acid transporter EAAT3. (PMID: 19644675) Fedorenko O. … Lang U.E. (Psychopharmacology (Berl.) 2009) 3 23
  4. A schizophrenia-linked mutation in PIP5K2A fails to activate neuronal M channels. (PMID: 18545987) Fedorenko O. … Lang U.E. (Psychopharmacology (Berl.) 2008) 3 23
  5. The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study. (PMID: 17555944) He Z. … He L. (Schizophr. Res. 2007) 3 23

Products for PIP4K2A Gene

Sources for PIP4K2A Gene

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