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Aliases for PIP4K2C Gene

Aliases for PIP4K2C Gene

  • Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma 2 3
  • Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, 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
  • EC 2.7.1.149 4 63
  • PIP5K2C 3 4
  • Phosphatidylinositol-5-Phosphate 4-Kinase Type-2 Gamma 3
  • Phosphatidylinositol 4-Phosphate 5-Kinase 3
  • EC 2.7.1 63

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 Signaling by GPCR and Metabolism. 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.

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

Genomics for PIP4K2C Gene

Regulatory Elements for PIP4K2C Gene

Promoters for PIP4K2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIP4K2C on UCSC Golden Path with GeneCards custom track

Genomic Location for PIP4K2C Gene

Chromosome:
12
Start:
57,591,159 bp from pter
End:
57,603,428 bp from pter
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

Proteomics data for PIP4K2C Gene at MOPED

Post-translational modifications for PIP4K2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PIP4K2C Gene

Gene Families for PIP4K2C Gene

Graphical View of Domain Structure for InterPro Entry

Q8TBX8

UniProtKB/Swiss-Prot:

PI42C_HUMAN :
  • Contains 1 PIPK domain.
Domain:
  • Contains 1 PIPK domain.
genes like me logo Genes that share domains with PIP4K2C: view

Function for PIP4K2C Gene

Molecular function for PIP4K2C Gene

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

Enzyme Numbers (IUBMB) for PIP4K2C Gene

Gene Ontology (GO) - Molecular Function for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity IEA --
GO:0042802 identical protein binding IPI 18255255
genes like me logo Genes that share ontologies with PIP4K2C: view
genes like me logo Genes that share phenotypes with PIP4K2C: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for PIP4K2C Gene COMPARTMENTS Subcellular localization image for PIP4K2C gene
Compartment Confidence
cytosol 5
extracellular 5
vacuole 3
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PIP4K2C Gene

GO ID Qualified GO term Evidence PubMed IDs
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

SuperPathways 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: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

(1) Drugs for PIP4K2C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 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
  • 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 PIP4K2C: view

Transcripts for PIP4K2C Gene

Unigene Clusters for PIP4K2C Gene

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

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 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, PaxDb, MOPED, and MaxQB for PIP4K2C Gene



SOURCE GeneReport for Unigene cluster for PIP4K2C Gene Hs.745011

genes like me logo Genes that share expression patterns with PIP4K2C: view

Protein tissue co-expression partners for PIP4K2C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.68 (n)
  • 99.52 (a)
PIP4K2C 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIP4K2C 36
  • 97 (a)
OneToOne
PIP4K2C 35
  • 93.35 (n)
  • 96.44 (a)
dog
(Canis familiaris)
Mammalia PIP4K2C 35
  • 93.39 (n)
  • 97.25 (a)
PIP4K2C 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pip4k2c 16
Pip4k2c 35
  • 90.42 (n)
  • 95.96 (a)
Pip4k2c 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIP4K2C 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIP4K2C 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip4k2c 35
  • 90.89 (n)
  • 96.44 (a)
lizard
(Anolis carolinensis)
Reptilia PIP4K2C 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip4k2c 35
  • 72.71 (n)
  • 78.5 (a)
Str.3445 35
zebrafish
(Danio rerio)
Actinopterygii LOC100535634 35
  • 69.98 (n)
  • 71.94 (a)
pip5k2 35
PIP4K2C (2 of 2) 36
  • 67 (a)
OneToMany
pip5k2 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17471 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ppk-2 36
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10982 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7002 36
  • 49 (a)
OneToMany
Species with no ortholog for PIP4K2C:
  • 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)

Paralogs for PIP4K2C Gene

Paralogs for PIP4K2C Gene

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

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 Sequence Context AA Info Type
rs17550713 - 57,594,101(+) CAAGG(C/T)CAACA reference, missense, splice-donor-variant
rs17852569 - 57,600,346(+) CCTTA(A/G)GGATA reference, missense
rs2277319 - 57,600,896(+) GGAAG(C/G/T)GCCCG reference, missense
rs812315 -- 57,599,707(-) AAACA(C/T)TTTGC intron-variant
rs1296041 -- 57,595,659(-) gtggt(A/G)cgatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIP4K2C Gene

Variant ID Type Subtype PubMed ID
dgv513e1 CNV Complex 17122850
nsv428283 CNV Gain 18775914
nsv725 CNV Loss 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)

Relevant External Links for PIP4K2C Gene

HapMap Linkage Disequilibrium report
PIP4K2C

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

Disorders for PIP4K2C Gene

Relevant External Links for PIP4K2C

Genetic Association Database (GAD)
PIP4K2C
Human Genome Epidemiology (HuGE) Navigator
PIP4K2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIP4K2C

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 A.H. … Huizinga T.W. (Ann. Rheum. Dis. 2010) 3 48 67
  2. A new pathway for synthesis of phosphatidylinositol-4,5- bisphosphate. (PMID: 9367159) Rameh L.E. … Cantley L.C. (Nature 1997) 2 3
  3. PI(5)P regulates autophagosome biogenesis. (PMID: 25578879) Vicinanza M. … Rubinsztein D.C. (Mol. Cell 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for PIP4K2C Gene

Sources for PIP4K2C Gene

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