PIP4K2C - phosphatidylinositol-5-phosphate 4-kinase type 2 gamma Gene

Homo sapiens

Also known as PIP5K2C

Gene ID: 79837 | Gene type: protein coding

About PIP4K2C

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,591,192-57,603,418 (from NCBI)

This gene has 8 transcripts (splice variants), 260 orthologues and 6 paralogues. Ubiquitous expression in testis (RPKM 18.0), kidney (RPKM 16.8) and 25 other tissues.

Summary

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in several processes, including 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PIP4K2C Products(4)

mRNA	Protein	Name
NM_001146258.2	NP_001139730.1	phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a
NM_001146259.2	NP_001139731.1	phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform b
NM_001146260.2	NP_001139732.1	phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform c
NM_024779.5	NP_079055.3	phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity	IDA IDA: Inferred from direct assay	26774281	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18255255	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31091439	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process	IDA IDA: Inferred from direct assay	26774281	GOA
involved in negative regulation of insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	31091439	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25578879	GOA
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	25578879	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in autophagosome	IMP IMP: Inferred from mutant phenotype	25578879	GOA
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	30718367	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIP4K2C Protein Structure

PIP5K

0
100
200
300
421 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol 5-phosphate 4-kinase type-2 gamma

PI(5)P 4-kinase type II gamma

PIP4K2C Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PIP4K2C	Q8TBX8	PIP4K2A	Homo sapiens	P48426	Anti Tag CoIP	35271311
Intra	PIP4K2C	Q8TBX8	PIP4K2A	Homo sapiens	P48426	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome	Macrocephaly-Intellectual Disability-Autism Syndrome
MCEPHAS

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-106005	MMV390048	Inhibitor	99.17%	Phase 2

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110150	UNC3230		99.78%	Unkown
HY-15800A	CZC-25146	Inhibitor	99.10%	Unkown
HY-153119	TMX-4153		98.96%	Unkown
HY-161619	RMC-113	Inhibitor	99.54%	Unkown
HY-159625	WX8	Inhibitor	/	Unkown
HY-RS10564	PIP4K2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-15800	CZC-25146 hydrochloride	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIP4K2C	RGD	RGD:621711
Felis catus	PIP4K2C	VGNC	VGNC:64182
Canis familiaris	PIP4K2C	VGNC	VGNC:44572
Bos taurus	PIP4K2C	VGNC	VGNC:32908
Mus musculus	PIP4K2C	MGD	MGI:2152214
Macaca mulatta	PIP4K2C	VGNC	VGNC:100089
Others	PIP4K2C	NCBI

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