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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 Epileptic Encephalopathy, Early Infantile, 53. Among its related pathways are Regulation of TP53 Activity through Acetylation and RET signaling. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 | IEA | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | GAB1 signalosome |
.89
|
|
3 | Inositol phosphate metabolism (KEGG) | ||
4 | Metabolism |
.40
|
|
5 | Regulation of TP53 Activity through Acetylation |
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Phosphatidyl-D-myo-inositol |
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ADP |
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Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
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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: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIP4K2C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIP4K2C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIP4K2C 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIP4K2C 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pip4k2c 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pip4k2c 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIP4K2C 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIP4K2C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pip4k2c 30 |
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Str.3445 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | pip5k2 30 31 |
|
OneToMany | |
LOC100535634 30 |
|
||||
PIP4K2C (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17471 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ppk-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7002 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10982 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17550713 | - | p.Val84Ala | |||
rs17852569 | - | p.Lys241Arg | |||
rs2277319 | - | p.Ala300Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
parkinson disease 20, early-onset |
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epileptic encephalopathy, early infantile, 53 |
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macrocephaly/autism syndrome |
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joubert syndrome 1 |
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