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

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

PIP4K2C Protein Structure

PIP5K

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

  • 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

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

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