PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

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

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)

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		/	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

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