2. Gene
  3. PIP4K2C - phosphatidylinositol-5-phosphate 4-kinase type 2 gamma Gene

PIP4K2C - phosphatidylinositol-5-phosphate 4-kinase type 2 gamma Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷脂酰肌醇 5-磷酸 4-激酶 2 型伽玛

种属: Homo sapiens

同用名: PIP5K2C

基因 ID: 79837 | 基因类型: protein coding

关于 PIP4K2C

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,591,192-57,603,418 (from NCBI)

This gene has 8 transcripts (splice variants), 260 orthologues and 6 paralogues. Ubiquitous expression in testis (RPKM 18.0), kidney (RPKM 16.8) and 25 other tissues.

功能概要

启用 1-phosphatidylinositol-4-phosphate 5-kinase 活性和相同的蛋白质结合活性。参与多个过程，包括 1-磷脂酰-1D-肌醇 4,5-二磷酸生物合成过程；负调节 1-phosphatidylinositol-4-phosphate 5-kinase 活性；和自噬体组装的正调控。位于多种细胞成分中，包括自噬体；胞质溶胶；和核质。 [由基因组资源联盟提供，2022 年 4 月]

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in several processes, including 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PIP4K2C 基因产物(4)

mRNA Protein Name
NM_001146258.2 NP_001139730.1 phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a
NM_001146259.2 NP_001139731.1 phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform b
NM_001146260.2 NP_001139732.1 phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform c
NM_024779.5 NP_079055.3 phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a
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 identical protein binding IPI
IPI: 通过物理相互作用推断
18255255 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31091439 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
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 intracellular membrane-bounded organelle 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

PIP4K2C 蛋白结构

PIP5K

PIP5K: Phosphatidylinositol-4-phosphate 5-Kinase (134 - 420)

  • 0
  • 100
  • 200
  • 300
  • 421 a.a.
蛋白主名 其他名称

phosphatidylinositol 5-phosphate 4-kinase type-2 gamma

PI(5)P 4-kinase type II gamma

PIP4K2C 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PIP4K2C Q8TBX8 PIP4K2A Homo sapiens P48426
Anti Tag CoIP
35271311
种属内
PIP4K2C Q8TBX8 PIP4K2A Homo sapiens P48426
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5
Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-106005 MMV390048 Inhibitor 99.17% Phase 2
Pre-clinical Phase
生物活性分子 (13)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-110150 UNC3230 Inhibitor 99.39% 否
HY-134508 C24-Ceramide Activator 99.92% 否
HY-153119 TMX-4153 Degrader 98.96% 否
HY-15800A CZC-25146 Inhibitor 99.10% 否
HY-159625 WX8 Inhibitor 99.43% 否
HY-161619 RMC-113 99.54% 否
HY-175751 LRK-4189 Degrader / 否
HY-174296 TMX-4102 / 否
HY-177432 TMX-4140 Inhibitor / 否
HY-RS10564 PIP4K2C Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-15800 CZC-25146 hydrochloride Inhibitor / 否
HY-RS18440 Pip4k2c Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24922 Pip4k2c Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PIP4K2C RGD RGD:621711
Felis catus PIP4K2C VGNC VGNC:64182
Canis familiaris PIP4K2C VGNC VGNC:44572
Bos taurus PIP4K2C VGNC VGNC:32908
Mus musculus PIP4K2C MGD MGI:2152214
Macaca mulatta PIP4K2C VGNC VGNC:100089
Others PIP4K2C NCBI
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