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

Also Known as PIP5K2C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79837

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 References 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 References 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 References 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

PIP5K: Phosphatidylinositol-4-phosphate 5-Kinase (134 - 420)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-106005 MMV390048 Inhibitor 98.85% Phase 2
HY-175751 LRK-4189 Modulator / Phase 2

Pre-clinical Phase

Bioactive Molecules (14)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-110150 UNC3230 Inhibitor 99.39% Unkown
HY-134508 C24-Ceramide Activator 99.92% Unkown
HY-164827 CDK2 degrader 3 Degrader 99.91% Unkown
HY-112440 HZX-02-059 Inhibitor 99.40% Unkown
HY-15800A CZC-25146 Inhibitor 98.05% Unkown
HY-153119 TMX-4153 Degrader 98.96% Unkown
HY-159625 WX8 Inhibitor 99.43% Unkown
HY-161619 RMC-113 99.54% Unkown
HY-174296 TMX-4102 / Unkown
HY-177432 TMX-4140 Inhibitor / Unkown
HY-RS10564 PIP4K2C Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-15800 CZC-25146 hydrochloride Inhibitor / Unkown
HY-RS18440 Pip4k2c Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24922 Pip4k2c Rat Pre-designed siRNA Set A Pre-designed Set / 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