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... See more...

Aliases for PIP4K2A Gene

Aliases for PIP4K2A Gene

  • Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha 2 3 5
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type II, Alpha 2 3
  • Phosphatidylinositol 5-Phosphate 4-Kinase Type II Alpha 3 4
  • Phosphatidylinositol 5-Phosphate 4-Kinase Type-2 Alpha 3 4
  • 1-Phosphatidylinositol 5-Phosphate 4-Kinase 2-Alpha 3 4
  • Diphosphoinositide Kinase 2-Alpha 3 4
  • PI(5)P 4-Kinase Type II Alpha 3 4
  • PIP4KII-Alpha 3 4
  • PIP5KIIalpha 2 3
  • EC 2.7.1.149 4 50
  • PI5P4Kalpha 3 4
  • PIP5KIIA 2 3
  • PIP5KIII 3 4
  • PI5P4KA 3 4
  • PIP5K2A 3 4
  • Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Alpha 2
  • 1-Phosphatidylinositol-4-Phosphate-5-Kinase 3
  • 1-Phosphatidylinositol-4-Phosphate Kinase 3
  • Phosphatidylinositol 5-Phosphate 4-Kinase 4
  • PtdIns(5)P-4-Kinase Isoform 2-Alpha 4
  • PtdIns(4)P-5-Kinase B Isoform 4
  • PtdIns(4)P-5-Kinase C Isoform 4
  • PIP5KII-Alpha 3
  • EC 2.7.1 50
  • PIP4K2A 5
  • 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 Leukemia, Acute Lymphoblastic 3 and Childhood B-Cell Acute Lymphoblastic Leukemia. Among its related pathways are RET signaling and Integrin Pathway. Gene Ontology (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 Summary 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) (PubMed:9367159, PubMed:23326584). Has both ATP- and GTP-dependent kinase activities (PubMed:26774281). 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 (PubMed:18364242). May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation (By similarity). Required for lysosome-peroxisome membrane contacts and intracellular cholesterol transport through modulating peroxisomal PtdIns(4,5)P2 level (PubMed:29353240). In collaboration with PIP4K2B, has a role in mediating autophagy in times of nutrient stress (By similarity). Required for autophagosome-lysosome fusion and the regulation of cellular lipid metabolism (PubMed:31091439). May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size (By similarity). Negatively regulates insulin signaling through a catalytic-independent mechanism (PubMed:31091439). PIP4Ks interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).

Gene Wiki entry for PIP4K2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP4K2A Gene

Genomics for PIP4K2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIP4K2A 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
GH10J022709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.2 2193 6 BCLAF1 ZNF207 MYC IKZF1 ZNF592 ZNF10 POLR2A NFIC ZIC2 ZBTB10 PIP4K2A ENSG00000279819 HSALNG0076662 MN309064 SPAG6
GH10J022596 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.8 +97.2 97201 42.3 BCLAF1 SP1 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZNF592 ZMYM3 PIP4K2A MSRB2 COMMD3 lnc-EBLN1-7 MN309064 HSALNG0076661 lnc-EBLN1-8 SPAG6
GH10J022675 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 20.3 +33.1 33149 11.3 ZNF207 ZNF600 NCOR1 IKZF1 MYC JUND ZNF592 ATF2 CEBPA ATF3 PIP4K2A COMMD3 HSALNG0076661 lnc-EBLN1-8 MN309064 lnc-EBLN1-7 SPAG6
GH10J022641 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 20 +63.7 63654 19 IKZF1 NCOR1 NFIC BCL11A CEBPB TRIM22 CTCF ELF1 FOXA2 CTBP1 PIP4K2A COMMD3 lnc-EBLN1-7 lnc-EBLN1-8 HSALNG0076661 MN309064 SPAG6
GH10J022661 Enhancer 0.6 dbSUPER 18.9 +51.9 51852 2.2 IKZF1 ZNF316 CREM TAL1 HDAC2 TCF12 NR2F6 TFAP4 MEIS2 DPF2 PIP4K2A HSALNG0076661 lnc-EBLN1-8 lnc-EBLN1-7 MN309064 SPAG6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIP4K2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP4K2A

Top Transcription factor binding sites by QIAGEN in the PIP4K2A gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • oct-B2
  • oct-B3
  • POU2F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PIP4K2A Gene

Latest Assembly
chr10:22,534,854-22,714,578
(GRCh38/hg38)
Size:
179,725 bases
Orientation:
Minus strand

Previous Assembly
chr10:22,823,783-23,003,507
(GRCh37/hg19 by Entrez Gene)
Size:
179,725 bases
Orientation:
Minus strand

chr10:22,823,778-23,003,484
(GRCh37/hg19 by Ensembl)
Size:
179,707 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 (PubMed:32130941). Interacts with PIP4K2B; the interaction may regulate localization to the nucleus (PubMed:20583997). Probably interacts with PIP5K1A; the interaction inhibits PIP5K1A kinase activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIP4K2A Gene

    Alternative splice isoforms for PIP4K2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP4K2A Gene

Selected DME Specific Peptides for PIP4K2A Gene

P48426:
  • NHLFNKEN
  • KTKKKHFV
  • VTRNVFSHRL
  • REASDKEK
  • ARSGARFHTSYD
  • KRFLDFI
  • VFRNLRERFGI
  • QKVKLFRAS
  • KEVYFMAIIDILT
  • YCPMVFRNLR
  • TLLPQFLGMYR
  • VKHGAGAEISTV
  • RKYDLKGS
  • FKFKEYCP
  • KDNDFIN
  • FLEKLKKDVEFLAQLKLMDYSLLVGIHDVERAEQEEVEC
  • DYSLLVG
  • SEDVAEMHNILKKYHQ

Post-translational modifications for PIP4K2A Gene

  • Phosphorylated in tyrosines. Phosphorylation is induced by light and increases kinase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PIP4K2A Gene

Gene Families for PIP4K2A Gene

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

Protein Domains for PIP4K2A Gene

InterPro:
Blocks:
  • Phosphatidylinositol-4-phosphate 5-kinase

Suggested Antigen Peptide Sequences for PIP4K2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53867, highly similar to Phosphatidylinositol-4-phosphate 5-kinase type-2 alpha (EC 2.7.1.68) (B4DGX2_HUMAN)
  • PtdIns(5)P-4-kinase isoform 2-alpha (PI42A_HUMAN)
  • Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha (Q5JUT2_HUMAN)
  • Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha (Q5JUT3_HUMAN)
genes like me logo Genes that share domains with PIP4K2A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP4K2A Gene

Function for PIP4K2A Gene

Molecular function for PIP4K2A Gene

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) (PubMed:9367159, PubMed:23326584). Has both ATP- and GTP-dependent kinase activities (PubMed:26774281). 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 (PubMed:18364242). May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation (By similarity). Required for lysosome-peroxisome membrane contacts and intracellular cholesterol transport through modulating peroxisomal PtdIns(4,5)P2 level (PubMed:29353240). In collaboration with PIP4K2B, has a role in mediating autophagy in times of nutrient stress (By similarity). Required for autophagosome-lysosome fusion and the regulation of cellular lipid metabolism (PubMed:31091439). May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size (By similarity). Negatively regulates insulin signaling through a catalytic-independent mechanism (PubMed:31091439). PIP4Ks interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:12280, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.149; Evidence={ECO:0000269|PubMed:9367159};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + ATP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:55992, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:23326584, ECO:0000269|PubMed:26774281};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + GTP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + GDP + H(+); Xref=Rhea:RHEA:55964, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968; Evidence={ECO:0000269|PubMed:26774281};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=50 uM for phosphatidylinositol-5- phosphate {ECO:0000269|PubMed:20583997}; KM=5 uM for ATP {ECO:0000269|PubMed:26774281}; KM=3 uM for GTP {ECO:0000269|PubMed:26774281}; Vmax=466 pmol/min/ug enzyme {ECO:0000269|PubMed:20583997};
UniProtKB/Swiss-Prot EnzymeRegulation:
In rod outer segments, activated by light. Inhibited by I-OMe tyrphostin AG-538 (I-OMe-AG-538), acting as an ATP-competitive inhibitor (PubMed:23326584).

Enzyme Numbers (IUBMB) for PIP4K2A Gene

Phenotypes From GWAS Catalog for PIP4K2A Gene

Gene Ontology (GO) - Molecular Function for PIP4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 32296183
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
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 Models for research

  • Taconic Biosciences Mouse Models for PIP4K2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4K2A

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. Lysosome. Cytoplasm. Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment. 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 UniProtKB:O70172, ECO:0000269 PubMed:20583997}.

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 PIP4K2A gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
cytoskeleton 2
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIP4K2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome ISS --
GO:0005776 autophagosome IMP 25578879
genes like me logo Genes that share ontologies with PIP4K2A: view

Pathways & Interactions for PIP4K2A Gene

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

Pathways by source for PIP4K2A Gene

7 Qiagen pathways for PIP4K2A Gene
  • Actin-Based Motility by Rho Family GTPases
  • Aldosterone Signaling in Epithelial Cells
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • Rac1 Pathway
1 Cell Signaling Technology pathway for PIP4K2A Gene

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:0010506 regulation of autophagy IMP,ISS --
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
GO:0016310 phosphorylation IEA --
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
ATP Investigational Nutra 0

(3) Additional Compounds for PIP4K2A 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 PIP4K2A: view

Transcripts for PIP4K2A Gene

mRNA/cDNA for PIP4K2A Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 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 PIP4K2A

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

Expression for PIP4K2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PIP4K2A Gene



Protein tissue co-expression partners for PIP4K2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP4K2A

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.

Evidence on tissue expression from TISSUES for PIP4K2A Gene

  • Nervous system(4.7)
  • Blood(4.5)
  • Skin(2.8)
  • Spleen(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with PIP4K2A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP4K2A Gene

Orthologs for PIP4K2A Gene

This gene was present in the common ancestor of animals.

Orthologs for PIP4K2A Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia -- 30
  • 100 (a)
OneToMany
PIP4K2A 29
  • 91.79 (n)
-- 30
  • 82 (a)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia PIP4K2A 29 30
  • 99.9 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIP4K2A 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PIP4K2A 29 30
  • 92.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pip4k2a 29 16 30
  • 89.47 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIP4K2A 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pip4k2a 29
  • 87.93 (n)
Chicken
(Gallus gallus)
Aves PIP4K2A 29 30
  • 84.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIP4K2A 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pip4k2b 29
  • 80.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii pip4k2aa 29 30
  • 76.84 (n)
OneToMany
pip4k2ab 30
  • 76 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG17471 30
  • 56 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ppk-2 30
  • 52 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7002 30
  • 55 (a)
OneToMany
Species where no ortholog for PIP4K2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIP4K2A: view image
Alliance of Genome Resources:
Additional Orthologs for PIP4K2A

Paralogs for PIP4K2A Gene

Paralogs for PIP4K2A Gene

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

  • PI42A_HUMAN
  • B4DGX2_HUMAN
  • H7BXS3_HUMAN
  • L8EAD2_HUMAN
  • Q5JUT2_HUMAN
  • Q5JUT3_HUMAN
  • S4R320_HUMAN
genes like me logo Genes that share paralogs with PIP4K2A: view

Variants for PIP4K2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP4K2A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs142114938 Benign: not provided 22,607,917(-) C/T
NM_005028.5(PIP4K2A):c.339+10G>A
INTRON
rs2230470 Benign: not provided 22,541,861(-) G/T
NM_005028.5(PIP4K2A):c.979C>A (p.Leu327Met)
MISSENSE
rs62640376 Benign: not provided 22,541,928(-) G/A
NM_005028.5(PIP4K2A):c.912C>T (p.Ser304=)
SYNONYMOUS
rs80142698 Benign: not provided 22,537,249(-) T/C
NM_005028.5(PIP4K2A):c.1173A>G (p.Glu391=)
SYNONYMOUS
rs11813789 -- p.Leu7Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIP4K2A 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 PIP4K2A Gene

Variant ID Type Subtype PubMed ID
esv2659118 CNV deletion 23128226
esv2661976 CNV deletion 23128226
esv2733984 CNV deletion 23290073
esv3334237 CNV insertion 20981092
esv3436167 CNV insertion 20981092
esv3622597 CNV loss 21293372
esv3622599 CNV loss 21293372
nsv1069032 CNV deletion 25765185
nsv1113259 CNV deletion 24896259
nsv1120079 OTHER inversion 24896259
nsv1126245 CNV deletion 24896259
nsv831809 CNV gain 17160897

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)

Additional Variant Information for PIP4K2A Gene

Human Gene Mutation Database (HGMD)
PIP4K2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP4K2A
Leiden Open Variation Database (LOVD)
PIP4K2A

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIP4K2A Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIP4K2A Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
childhood b-cell acute lymphoblastic leukemia
  • b-cell childhood acute lymphoblastic leukemia
bipolar disorder
  • bipolar depression
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIP4K2A

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 PIP4K2A: view

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

Publications for PIP4K2A Gene

  1. 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 DL … Riley BP (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 40
  2. A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate. (PMID: 9367159) Rameh LE … Cantley LC (Nature 1997) 2 3 4
  3. The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases. (PMID: 7852364) Boronenkov IV … Anderson RA (The Journal of biological chemistry 1995) 2 3 4
  4. Targeting the PI5P4K Lipid Kinase Family in Cancer Using Covalent Inhibitors. (PMID: 32130941) Sivakumaren SC … Gray NS (Cell chemical biology 2020) 3 4
  5. PIP4Ks Suppress Insulin Signaling through a Catalytic-Independent Mechanism. (PMID: 31091439) Wang DG … Cantley LC (Cell reports 2019) 3 4

Products for PIP4K2A Gene

Sources for PIP4K2A Gene