Aliases for PIP4K2C Gene

Aliases for PIP4K2C Gene

  • Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma 2 3 5
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type II, Gamma 2 3
  • Phosphatidylinositol 5-Phosphate 4-Kinase Type II Gamma 3 4
  • Phosphatidylinositol 5-Phosphate 4-Kinase Type-2 Gamma 3 4
  • PI(5)P 4-Kinase Type II Gamma 3 4
  • PIP4KII-Gamma 3 4
  • EC 2.7.1.149 4 50
  • PIP5K2C 3 4
  • Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Gamma 2
  • Phosphatidylinositol 4-Phosphate 5-Kinase 3
  • FLJ22055 2
  • EC 2.7.1 50
  • PIP4K2C 5

External Ids for PIP4K2C Gene

Previous HGNC Symbols for PIP4K2C Gene

  • PIP5K2C

Previous GeneCards Identifiers for PIP4K2C Gene

  • GC12P056272
  • GC12P057985
  • GC12P055022

Summaries for PIP4K2C Gene

GeneCards Summary for PIP4K2C Gene

PIP4K2C (Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma) is a Protein Coding gene. Diseases associated with PIP4K2C include Parkinson Disease 20, Early-Onset and Macrocephaly/Autism Syndrome. Among its related pathways are RET signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and 1-phosphatidylinositol-5-phosphate 4-kinase activity. An important paralog of this gene is PIP4K2B.

UniProtKB/Swiss-Prot Summary for PIP4K2C Gene

  • Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP4K2C Gene

Genomics for PIP4K2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIP4K2C 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 PIP4K2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP4K2C

Top Transcription factor binding sites by QIAGEN in the PIP4K2C gene promoter:
  • AML1a
  • ARP-1
  • ATF6
  • Egr-3
  • IRF-1
  • MyoD
  • RORalpha1
  • Sox5
  • Spz1
  • ZID

Genomic Locations for PIP4K2C Gene

Latest Assembly
chr12:57,591,174-57,603,418
(GRCh38/hg38)
Size:
12,245 bases
Orientation:
Plus strand

Previous Assembly
chr12:57,984,975-57,997,201
(GRCh37/hg19 by Entrez Gene)
Size:
12,227 bases
Orientation:
Plus strand

chr12:57,984,957-57,997,198
(GRCh37/hg19 by Ensembl)
Size:
12,242 bases
Orientation:
Plus strand

Genomic View for PIP4K2C Gene

Genes around PIP4K2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP4K2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP4K2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP4K2C Gene

Proteins for PIP4K2C Gene

  • Protein details for PIP4K2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBX8-PI42C_HUMAN
    Recommended name:
    Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma
    Protein Accession:
    Q8TBX8
    Secondary Accessions:
    • B2RDL3
    • B4DM11
    • B4DY44
    • Q9H6N2

    Protein attributes for PIP4K2C Gene

    Size:
    421 amino acids
    Molecular mass:
    47300 Da
    Quaternary structure:
    • Interacts with PIP5K1A; the interaction inhibits PIP5K1A kinase activity.
    SequenceCaution:
    • Sequence=BAB15223.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PIP4K2C Gene

    Alternative splice isoforms for PIP4K2C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP4K2C Gene

Selected DME Specific Peptides for PIP4K2C Gene

Q8TBX8:
  • KTKKKHFV
  • KELPTLKDMDFLNK
  • REASDKEK
  • LKIMDYSLLLGIHD
  • IMDYSLL
  • KRFLDFI
  • APQKEVYFMGLIDILT
  • PLGPGEF
  • VMRNMFSHRL
  • TLLPQFLGMYR
  • QQKVKVFRA
  • VKHGAGAEISTV
  • VGSYGTSPEGI
  • RENLPSHFKFK
  • RKYDLKGS
  • FKFKEYCP
  • PVMLLPDDFKA
  • MDFLNKNQKVYIGE
  • FLEKLKRDVEFL
  • DYSLLLG
  • VHRKYDLKGS

Post-translational modifications for PIP4K2C Gene

Domains & Families for PIP4K2C Gene

Gene Families for PIP4K2C Gene

Protein Domains for PIP4K2C Gene

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

Suggested Antigen Peptide Sequences for PIP4K2C Gene

GenScript: Design optimal peptide antigens:
  • cDNA PSEC0253 fis, clone NT2RP3003368, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B3KQV3_HUMAN)
  • cDNA FLJ60683, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B4DM11_HUMAN)
  • cDNA FLJ52923, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B4DY44_HUMAN)
  • Phosphatidylinositol-5-phosphate 4-kinase type II gamma (PI42C_HUMAN)
genes like me logo Genes that share domains with PIP4K2C: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP4K2C Gene

Function for PIP4K2C Gene

Molecular function for PIP4K2C Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They 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:0000305|PubMed:26774281};.
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: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=31 uM for ATP {ECO:0000269|PubMed:26774281}; KM=389 uM for GTP {ECO:0000269|PubMed:26774281};

Enzyme Numbers (IUBMB) for PIP4K2C Gene

Phenotypes From GWAS Catalog for PIP4K2C Gene

Gene Ontology (GO) - Molecular Function for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 31091439
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 PIP4K2C: view
genes like me logo Genes that share phenotypes with PIP4K2C: view

Animal Models for PIP4K2C Gene

MGI Knock Outs for PIP4K2C:

Animal Models for research

  • Taconic Biosciences Mouse Models for PIP4K2C

miRNA for PIP4K2C Gene

miRTarBase miRNAs that target PIP4K2C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4K2C

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIP4K2C Gene

Localization for PIP4K2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP4K2C Gene

Endoplasmic reticulum. Cytoplasm.

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 PIP4K2C gene
Compartment Confidence
extracellular 4
cytosol 4
endoplasmic reticulum 3
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IMP 25578879
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PIP4K2C: view

Pathways & Interactions for PIP4K2C Gene

genes like me logo Genes that share pathways with PIP4K2C: view

Pathways by source for PIP4K2C Gene

7 Qiagen pathways for PIP4K2C Gene
  • Actin-Based Motility by Rho Family GTPases
  • Aldosterone Signaling in Epithelial Cells
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • Rac1 Pathway

Gene Ontology (GO) - Biological Process for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0010506 regulation of autophagy IMP 25578879
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
GO:0016310 phosphorylation IEA --
GO:0046488 phosphatidylinositol metabolic process IEA --
genes like me logo Genes that share ontologies with PIP4K2C: view

No data available for SIGNOR curated interactions for PIP4K2C Gene

Drugs & Compounds for PIP4K2C Gene

(2) Drugs for PIP4K2C Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra 0

(1) Additional Compounds for PIP4K2C Gene - From: 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 PIP4K2C: view

Transcripts for PIP4K2C Gene

mRNA/cDNA for PIP4K2C Gene

4 REFSEQ mRNAs :
12 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 PIP4K2C

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PIP4K2C Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3:
SP4: -
SP5: - -
SP6: - -

Relevant External Links for PIP4K2C Gene

GeneLoc Exon Structure for
PIP4K2C

Expression for PIP4K2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIP4K2C Gene

Protein differential expression in normal tissues from HIPED for PIP4K2C Gene

This gene is overexpressed in Cervix (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIP4K2C Gene



Protein tissue co-expression partners for PIP4K2C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP4K2C

SOURCE GeneReport for Unigene cluster for PIP4K2C Gene:

Hs.745011

Evidence on tissue expression from TISSUES for PIP4K2C Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with PIP4K2C: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP4K2C Gene

Orthologs for PIP4K2C Gene

This gene was present in the common ancestor of animals.

Orthologs for PIP4K2C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIP4K2C 29 30
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIP4K2C 29 30
  • 93.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIP4K2C 29 30
  • 93.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIP4K2C 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pip4k2c 29
  • 90.89 (n)
Mouse
(Mus musculus)
Mammalia Pip4k2c 29 16 30
  • 90.42 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIP4K2C 30
  • 74 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIP4K2C 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pip4k2c 29
  • 72.71 (n)
Str.3445 29
Zebrafish
(Danio rerio)
Actinopterygii pip5k2 29 30
  • 70 (a)
OneToMany
LOC100535634 29
  • 69.98 (n)
PIP4K2C (2 of 2) 30
  • 67 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG17471 30
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ppk-2 30
  • 46 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7002 30
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10982 29
Species where no ortholog for PIP4K2C 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)
  • Chicken (Gallus gallus)
  • 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 PIP4K2C Gene

ENSEMBL:
Gene Tree for PIP4K2C (if available)
TreeFam:
Gene Tree for PIP4K2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIP4K2C: view image
Alliance of Genome Resources:
Additional Orthologs for PIP4K2C

Paralogs for PIP4K2C Gene

Paralogs for PIP4K2C Gene

(7) SIMAP similar genes for PIP4K2C Gene using alignment to 5 proteins:

  • PI42C_HUMAN
  • F8VNT5_HUMAN
  • F8VU68_HUMAN
  • F8VVB2_HUMAN
  • H0YIJ6_HUMAN
genes like me logo Genes that share paralogs with PIP4K2C: view

Variants for PIP4K2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP4K2C Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17550713 -- p.Val84Ala
rs17852569 -- p.Lys241Arg
rs2277319 -- p.Ala300Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIP4K2C 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 PIP4K2C Gene

Variant ID Type Subtype PubMed ID
esv2759901 CNV gain 17122850
nsv428283 CNV gain 18775914
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv725 CNV deletion 18451855

Variation tolerance for PIP4K2C Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIP4K2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP4K2C
Leiden Open Variation Database (LOVD)
PIP4K2C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP4K2C Gene

Disorders for PIP4K2C Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIP4K2C Gene - From: COP

Disorder Aliases PubMed IDs
parkinson disease 20, early-onset
  • park20
macrocephaly/autism syndrome
  • macrocephaly-autism syndrome
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIP4K2C

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 PIP4K2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIP4K2C Gene

Publications for PIP4K2C Gene

  1. PIP4Ks Suppress Insulin Signaling through a Catalytic-Independent Mechanism. (PMID: 31091439) Wang DG … Cantley LC (Cell reports 2019) 3 4
  2. The Lipid Kinase PI5P4Kβ Is an Intracellular GTP Sensor for Metabolism and Tumorigenesis. (PMID: 26774281) Sumita K … Sasaki AT (Molecular cell 2016) 3 4
  3. Genetic variants in the prediction of rheumatoid arthritis. (PMID: 20439292) van der Helm-van Mil AH … Huizinga TW (Annals of the rheumatic diseases 2010) 3 40
  4. Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis. (PMID: 19644859) van der Linden MP … van der Helm-Van Mil AH (Arthritis and rheumatism 2009) 3 40
  5. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. (PMID: 18794853) Raychaudhuri S … Plenge RM (Nature genetics 2008) 3 40

Products for PIP4K2C Gene

Sources for PIP4K2C Gene