PIP4K2A - phosphatidylinositol-5-phosphate 4-kinase type 2 alpha Gene

Also Known as PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5305

About PIP4K2A

Cytogenetic location: 10p12.2 Genomic coordinates (GRCh38): 10:22,534,854-22,714,578 (from NCBI)

This gene has 8 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 41.4), lymph node (RPKM 29.9) and 23 other tissues.

Summary

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of Enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to Other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

PIP4K2A Products (2)

mRNA Protein Name
NM_001330062.2 NP_001316991.1 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2
NM_005028.5 NP_005019.2 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1
Molecular Function GO Annotation Evidence References Source
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IDA
IDA: Inferred from direct assay
26774281 GOA
enables 1-phosphatidylinositol-5-phosphate 4-kinase activity IDA
IDA: Inferred from direct assay
30718367 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
32130941 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
involved in vesicle-mediated cholesterol transport IMP
IMP: Inferred from mutant phenotype
29353240 GOA
Cellular Component GO Annotation Evidence References Source
located in autophagosome IMP
IMP: Inferred from mutant phenotype
25578879 GOA
located in cytosol IDA
IDA: Inferred from direct assay
30718367 GOA
located in plasma membrane 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

PIP4K2A Protein Structure

PIP5K

PIP5K: Phosphatidylinositol-4-phosphate 5-Kinase (124 - 404)

  • 0
  • 100
  • 200
  • 300
  • 406 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol 5-phosphate 4-kinase type-2 alpha

  • 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha

PIP4K2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PIP4K2A P48426 MEIS3 Homo sapiens Q99687-3 32296183
Intra
PIP4K2A P48426 MEIS3 Homo sapiens Q99687-3 32296183
Intra
PIP4K2A P48426 MEIS3 Homo sapiens Q99687-3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PIP4K2A Proteins

Cat. No. Product Name Accession Purity
HY-P71206 PIP4K2A Protein, Human (HEK293, His) P48426-1 (M1-T406) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Hemoglobin H Disease
  • HBH

  • Hemoglobin H Disease, Nondeletional

  • Hemoglobin H Disease, Deletional

  • Alpha-Thalassemia Intermedia

  • Haemoglobin H Disease

  • Alpha-Thalassemia, Hemoglobin H Type

  • Hemoglobin H Disease, Deletional And Nondeletional

  • Alpha Thalassemia, Haemoglobin H Type

  • Alpha Thalassemia, Hemoglobin H Type

  • Haemoglobin H Disease, Deletional

  • Hbh Disease

  • Alpha-Thalassemia Hemoglobin H Type

  • Hemoglobin H Disease Deletional

  • Hemoglobin H Disease Non-Deletional

  • Alpha-Thalassemia

  • Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

  • Alpha Thalassaemia Intermedia

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
Canis familiaris PIP4K2A VGNC VGNC:84432
Felis catus PIP4K2A VGNC VGNC:68864
Macaca mulatta PIP4K2A VGNC VGNC:76003
Bos taurus PIP4K2A VGNC VGNC:32906
Rattus norvegicus PIP4K2A RGD RGD:621708
Mus musculus PIP4K2A MGD MGI:1298206
Others PIP4K2A NCBI