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

中文名称：磷脂酰肌醇 5-磷酸 4-激酶 2 型 α

种属: Homo sapiens

同用名: PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha

基因 ID: 5305 | 基因类型: protein coding

关于 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.

功能概要

Phosphatidylinositol-5,4-bisphosphate 是磷酸肌醇信号转导通路第二信使的前体，被认为参与分泌、细胞增殖、分化和运动的调节。由该基因编码的蛋白质是能够催化肌醇环第四个羟基上的磷脂酰肌醇-5-磷酸磷酸化形成磷脂酰肌醇-5,4-二磷酸的酶家族之一。该酶的氨基酸序列与其他激酶没有同源性，但重组蛋白确实具有激酶活性。该基因是磷脂酰肌醇 5 磷酸 4 激酶家族的成员。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity	IDA IDA: 通过直接分析推断	26774281	GOA
enables 1-phosphatidylinositol-5-phosphate 4-kinase activity	IDA IDA: 通过直接分析推断	30718367	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	32130941	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process	IDA IDA: 通过直接分析推断	26774281	GOA
involved in negative regulation of insulin receptor signaling pathway	IMP IMP: 通过突变表型推断	31091439	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: 通过突变表型推断	25578879	GOA
involved in regulation of autophagy	IMP IMP: 通过突变表型推断	25578879	GOA
involved in vesicle-mediated cholesterol transport	IMP IMP: 通过突变表型推断	29353240	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in autophagosome	IMP IMP: 通过突变表型推断	25578879	GOA
located in cytosol	IDA IDA: 通过直接分析推断	30718367	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	30718367	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PIP4K2A 蛋白结构

PIP5K

0
100
200
300
406 a.a.

蛋白主名

其他名称

phosphatidylinositol 5-phosphate 4-kinase type-2 alpha

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

重组 PIP4K2A 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71206	PIP4K2A Protein, Human (HEK293, His)	P48426-1 (M1-T406)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-139868	BAY-091	Inhibitor	99.55%	否
HY-136310	PIP4K-IN-a131		98.92%	否
HY-RS10562	PIP4K2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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