1. Gene
  2. PCK2 - phosphoenolpyruvate carboxykinase 2, mitochondrial Gene

PCK2 - phosphoenolpyruvate carboxykinase 2, mitochondrial Gene

中文名称:磷酸烯醇丙酮酸羧激酶 2,线粒体

种属: Homo sapiens

同用名: PEPCK; PEPCK2; PEPCK-M

基因 ID: 5106 | 基因类型: protein coding

关于 PCK2

Cytogenetic location: 14q11.2-q12 Genomic coordinates (GRCh38): 14:24,094,171-24,104,125 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 201 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 127.7), small intestine (RPKM 91.2) and 8 other tissues.

功能概要

该基因编码一种线粒体酶,该酶在三磷酸鸟苷 (GTP) 存在的情况下催化草酰乙酸转化为磷酸烯醇丙酮酸。这种蛋白质的胞质形式由不同的基因编码,是肝脏糖异生的关键酶。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2014 年 4 月]

This gene encodes a mitochondrial Enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key Enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

PCK2 基因产物(4)

mRNA Protein Name
NM_001018073.3 NP_001018083.2 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 2 precursor
NM_001291556.2 NP_001278485.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3
NM_001308054.2 NP_001294983.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3
NM_004563.4 NP_004554.3 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables manganese ion binding IDA
IDA: 通过直接分析推断
28955899 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity EXP
EXP: 通过实验结果推断
9657976 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity IDA
IDA: 通过直接分析推断
28955899 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
8645161 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

PCK2 蛋白结构

PEPCK_C

PEPCK_C: Phosphoenolpyruvate carboxykinase C-terminal P-loop domain (46 - 639)

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  • 600
  • 640 a.a.
蛋白主名 其他名称

phosphoenolpyruvate carboxykinase [GTP], mitochondrial

PEP carboxykinase

PCK2 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
PCK2 Q16822 SMAD3 Homo sapiens P84022
Y2H
21988832
种属内
PCK2 Q16822 SMAD3 Homo sapiens P84022 21988832
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PCK2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75957 PCK2 Protein, Human (sf9, His-GST) Q16822-1/NP_004554.3 (L33-M640) ≥95%

PCK2 抗体

目录号 产品名 应用 反应物种
HY-P81802 PCK2 Antibody (YA1547) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat

关联疾病

疾病名称 别名
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Pck2 Deficiency

Phosphoenolpyruvate Carboxykinase 2 Deficiency

PCKDM

Pepck2 Deficiency

Pepck Deficiency, Mitochondrial

Pepck 2 Deficiency

Pepck2

Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency

M-PEPCKD

Pepck 1 Deficiency

Phosphoenolpyruvate Carboxykinase Deficiency

Phosphoenolpyruvate Carboxykinase Deficiency

Pep Carboxykinase Deficiency

Phosphoenolpyruvate Carboxykinase-1 Deficiency

Phosphoenolpyruvate Carboxylase Deficiency

Phosphopyruvate Carboxylase Deficiency

Pepck Deficiency

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Hyperglycemia
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Diabetes Mellitus

Diabetes

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

直系同源

种属 基因名 来源 基因 ID
Felis catus PCK2 VGNC VGNC:68727
Rattus norvegicus PCK2 RGD RGD:1311112
Canis familiaris PCK2 VGNC VGNC:44308
Macaca mulatta PCK2 VGNC VGNC:75780
Bos taurus PCK2 VGNC VGNC:32632
Mus musculus PCK2 MGD MGI:1860456
Others PCK2 NCBI