ME2 - malic enzyme 2 Gene

Also Known as ODS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4200

About ME2

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:50,879,118-50,954,257 (from NCBI)

This gene has 19 transcripts (splice variants), 212 orthologues and 2 paralogues. Ubiquitous expression in duodenum (RPKM 15.0), colon (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

ME2 Products (2)

mRNA Protein Name
NM_001168335.2 NP_001161807.1 NAD-dependent malic enzyme, mitochondrial isoform 2 precursor
NM_002396.5 NP_002387.1 NAD-dependent malic enzyme, mitochondrial isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables malic enzyme activity IMP
IMP: Inferred from mutant phenotype
23334421 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of NADP metabolic process IMP
IMP: Inferred from mutant phenotype
23334421 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

ME2 Protein Structure

malic

malic: Malic enzyme, N-terminal domain (89 - 270)

Malic_M

Malic_M: Malic enzyme, NAD binding domain (280 - 533)

  • 0
  • 100
  • 200
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  • 500
  • 584 a.a.
Protein Preferred Names Protein Names

NAD-dependent malic enzyme, mitochondrial

  • NAD-ME

Recombinant ME2 Proteins

Cat. No. Product Name Accession Purity
HY-P71918A NAD-ME Protein, Human (His) P23368-1 (L19-E584) ≥ 95%, as determined by reducing SDS-PAGE.

ME2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83310 ME2 Antibody (YA3055) WB, ICC/IF Human, Mouse, Rat
HY-P83310A ME2 Antibody (YA3055)(PBS only) WB, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Epilepsy, Idiopathic Generalized
  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Generalized Epilepsy With Febrile Seizures Plus
  • Gefs+

  • Genetic Epilepsy With Febrile Seizures Plus

  • Generalized Epilepsy With Febrile Seizures-Plus

  • Genetic Epilepsy With Febrile Seizures-Plus

  • Epilepsy, Generalized, With Febrile Seizures Plus

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta ME2 VGNC VGNC:97791
Felis catus ME2 VGNC VGNC:68226
Canis familiaris ME2 VGNC VGNC:43110
Rattus norvegicus ME2 RGD RGD:1310321
Mus musculus ME2 MGD MGI:2147351
Bos taurus ME2 VGNC VGNC:31340
Others ME2 NCBI