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

PCK2 - phosphoenolpyruvate carboxykinase 2, mitochondrial Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PEPCK; PEPCK2; PEPCK-M

Gene ID: 5106 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables manganese ion binding IDA
IDA: Inferred from direct assay
28955899 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity EXP
EXP: Inferred from Experiment
9657976 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity IDA
IDA: Inferred from direct assay
28955899 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
8645161 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCK2 Protein Structure

PEPCK_C

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

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  • 640 a.a.
Protein Preferred Names Protein Names

phosphoenolpyruvate carboxykinase [GTP], mitochondrial

PEP carboxykinase

Recombinant PCK2 Proteins

Cat. No. Product Name Accession Purity
HY-P75957 PCK2 Protein, Human (sf9, His-GST) Q16822-1/NP_004554.3 (L33-M640) ≥95%

Related Diseases

Diseases Alias
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
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 (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS16227 Pck2 Mouse Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS10153 PCK2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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