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

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

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 (7)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-110150 UNC3230 99.78% 否
HY-15800A CZC-25146 Inhibitor 99.10% 否
HY-153119 TMX-4153 98.96% 否
HY-161619 RMC-113 Inhibitor / 否
HY-159625 WX8 Inhibitor / 否
HY-RS10564 PIP4K2C Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-15800 CZC-25146 hydrochloride Inhibitor / 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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