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PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

Also Known as PI4KII; PIK42A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55361

About PI4K2A

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,640,671-97,676,434 (from NCBI)

This gene has 1 transcript (splice variant), 224 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 11.9), gall bladder (RPKM 10.1) and 25 other tissues.

Summary

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin Cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

PI4K2A Products (1)

mRNA	Protein	Name
NM_018425.4	NP_060895.1	phosphatidylinositol 4-kinase type 2-alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-phosphatidylinositol 4-kinase activity	IDA IDA: Inferred from direct assay	11279162	GOA
enables AP-3 adaptor complex binding	IDA IDA: Inferred from direct assay	21998198	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	24675427	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21998198	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol biosynthetic process	IDA IDA: Inferred from direct assay	11279162	GOA
involved in phosphatidylinositol phosphate biosynthetic process	IDA IDA: Inferred from direct assay	11923287	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	21998198	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	12324459	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	11923287	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	35880319	GOA
located in membrane	IDA IDA: Inferred from direct assay	24675427	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	11279162	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11279162	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

PI4K2A Protein Structure

PI3_PI4_kinase

0
100
200
300
400
479 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol 4-kinase type 2-alpha	phosphatidylinositol 4-kinase type II (PI4KII)

PI4K2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PI4K2A	Q9BTU6	ITCH	Homo sapiens	Q96J02	Pull Down	23146885
Intra	PI4K2A	Q9BTU6	ITCH	Homo sapiens	Q96J02	NMR	23146885

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cutis Laxa, Autosomal Recessive, Type Iid	ARCL2D Autosomal Recessive Cutis Laxa Type Iid Autosomal Recessive Cutis Laxa Type 2d Cutis Laxa, Autosomal Recessive, 2d
Cutis Laxa, Autosomal Dominant 3	ADCL3 Autosomal Dominant Cutis Laxa 3 Cutis Laxa, Autosomal Dominant, 3
Congenital Aphakia	Congenital Absence Of Lens Aphakia, Congenital Primary Agenesis Of Lens
Lenz-Majewski Hyperostotic Dwarfism	Lenz-Majewski Syndrome Lenz Majewski Hyperostotic Dwarfism LMHD Hyperostotic Dwarfism Lenz-Majewski Type Lenz-Majewski Hyperostotic Dysplasia Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis Lms
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115675	NC03	Inhibitor	98.79%	Unkown
HY-RS10464	PI4K2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20578	Pi4k2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27086	Pi4k2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PI4K2A	VGNC	VGNC:110529
Felis catus	PI4K2A	VGNC	VGNC:110546
Mus musculus	PI4K2A	MGD	MGI:1934031
Bos taurus	PI4K2A	VGNC	VGNC:107302
Rattus norvegicus	PI4K2A	RGD	RGD:620485
Others	PI4K2A	NCBI