2. Gene
  3. PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PI4KII; PIK42A

Gene ID: 55361 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (135 - 437)

  • 0
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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10464 PI4K2A Human Pre-designed siRNA Set A Pre-designed Sets / 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