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

Homo sapiens

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

Gene ID: 5305 | Gene type: protein coding

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

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 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	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
involved in vesicle-mediated cholesterol transport	IMP IMP: Inferred from mutant phenotype	29353240	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PIP4K2A	P48426	MEIS3	Homo sapiens	Q99687-3	Y2H Prey Pooling	32296183
Intra	PIP4K2A	P48426	MEIS3	Homo sapiens	Q99687-3	Validated Y2H	32296183
Intra	PIP4K2A	P48426	MEIS3	Homo sapiens	Q99687-3	Y2H Array	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%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139868	BAY-091	Inhibitor	99.55%	Unkown
HY-136310	PIP4K-IN-a131		98.92%	Unkown
HY-RS10562	PIP4K2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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