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

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. Among its related pathways are Gene Expression and Apoptotic Pathways in Synovial Fibroblasts. 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 for PIP4K2C Gene

  • May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.

Additional gene information for PIP4K2C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP4K2C Gene

Genomics for PIP4K2C Gene

GeneHancer (GH) Regulatory Elements for PIP4K2C Gene

Promoters and enhancers for PIP4K2C 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
GH12J057590 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 262 1.9 HDGF SMAD1 FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF207 PIP4K2C ENSG00000224713 TSFM EEF1AKMT3 NEMP1 ARHGEF25 CDK4 SLC26A10 TSPAN31 CTDSP2
GH12J057592 Enhancer 0.5 FANTOM5 ENCODE 650.7 +1.6 1610 0.5 PIP4K2C KIF5A ARHGEF25 B4GALNT1 DTX3 AGAP2 R3HDM2
GH12J057608 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 5 +19.5 19481 3.7 HDGF ARID4B SIN3A DMAP1 ZNF48 POLR2B GLIS2 ZNF143 ATF7 NFKBIZ ARHGEF25 ENSG00000224713 TSFM OS9 EEF1AKMT3 PIP4K2C SLC26A10 DTX3
GH12J057603 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 0.4 +13.6 13617 3.2 SIN3A FEZF1 ZNF2 RFX5 YY1 ZNF335 POLR2B SCRT2 EGR2 YY2 DTX3 ENSG00000224713 ARHGEF25 PIP4K2C
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PIP4K2C Gene

Genomic Locations for PIP4K2C Gene
chr12:57,591,159-57,603,428
(GRCh38/hg38)
Size:
12,270 bases
Orientation:
Plus strand
chr12:57,984,942-57,997,211
(GRCh37/hg19)
Size:
12,270 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:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15223.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Post-translational modifications for PIP4K2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIP4K2C Gene

Domains & Families for PIP4K2C Gene

Gene Families for PIP4K2C Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for PIP4K2C Gene

Molecular function for PIP4K2C Gene

UniProtKB/Swiss-Prot Function:
May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.

Enzyme Numbers (IUBMB) for PIP4K2C Gene

Gene Ontology (GO) - Molecular Function for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
GO:0016309 1-phosphatidylinositol-5-phosphate 4-kinase activity EXP 23758345
GO:0016740 transferase 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 Model Products

  • Taconic Biosciences Mouse Models for PIP4K2C

CRISPR Products

miRNA for PIP4K2C Gene

miRTarBase miRNAs that target PIP4K2C

Inhibitory RNA Products

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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Cytoplasm. Membrane. Note=Mostly found in the cytosol and surrounding plasma membrane. However, its presence in the endoplasmic reticulum seems to be a prerequisite for PIP2 synthesis (By similarity). {ECO:0000250}.

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 5
cytosol 5
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IMP 25578879
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA 18570454
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

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 Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(2) Additional Compounds for PIP4K2C Gene - From: HMDB

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
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with PIP4K2C: view

Transcripts for PIP4K2C Gene

Unigene Clusters for PIP4K2C Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
PIP4K2C

Expression for PIP4K2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PIP4K2C Gene:

PIP4K2C

SOURCE GeneReport for Unigene cluster for PIP4K2C Gene:

Hs.745011

Evidence on tissue expression from TISSUES for PIP4K2C Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with PIP4K2C: view

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 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIP4K2C 34 33
  • 93.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIP4K2C 34 33
  • 93.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIP4K2C 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip4k2c 33
  • 90.89 (n)
mouse
(Mus musculus)
Mammalia Pip4k2c 16 34 33
  • 90.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIP4K2C 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIP4K2C 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip4k2c 33
  • 72.71 (n)
Str.3445 33
zebrafish
(Danio rerio)
Actinopterygii pip5k2 34 33
  • 70 (a)
OneToMany
LOC100535634 33
  • 69.98 (n)
PIP4K2C (2 of 2) 34
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17471 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ppk-2 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7002 34
  • 49 (a)
OneToMany
Cin.10982 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10982 33
Species where no ortholog for PIP4K2C was found in the sources mined by GeneCards:
  • 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)
  • 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

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 from dbSNP and Humsavar for PIP4K2C Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000692519 -- 57,597,227(+) C/T intron_variant
rs1000854418 -- 57,600,543(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000929405 -- 57,600,131(+) G/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000953778 -- 57,597,477(+) A/G intron_variant
rs1001090524 -- 57,593,572(+) C/T intron_variant

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

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

Disorders for PIP4K2C Gene

Additional Disease Information for PIP4K2C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PIP4K2C Gene.

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

Publications for PIP4K2C Gene

  1. 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 44 58
  2. 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 44 58
  3. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. (PMID: 18794853) Raychaudhuri S … Plenge RM (Nature genetics 2008) 3 44 58
  4. A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate. (PMID: 9367159) Rameh LE … Cantley LC (Nature 1997) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PIP4K2C Gene

Sources for PIP4K2C Gene

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