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ME2 malic enzyme 2 [ Homo sapiens (human) ]

Gene ID: 4200, updated on 9-Dec-2018

Summary

Official Symbol
ME2provided by HGNC
Official Full Name
malic enzyme 2provided by HGNC
Primary source
HGNC:HGNC:6984
See related
Ensembl:ENSG00000082212 MIM:154270
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ODS1
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]
Expression
Ubiquitous expression in duodenum (RPKM 15.0), colon (RPKM 14.1) and 25 other tissues See more
Orthologs

Genomic context

See ME2 in Genome Data Viewer
Location:
18q21.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (50878702..50949795)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (48405432..48476165)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 Neighboring gene maestro Neighboring gene ribosomal protein L17 pseudogene 46 Neighboring gene uncharacterized LOC107985152 Neighboring gene elaC ribonuclease Z 1 Neighboring gene uncharacterized LOC105372117 Neighboring gene SMAD family member 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
malate dehydrogenase (decarboxylating) (NAD+) activity TAS
Traceable Author Statement
more info
 
malate dehydrogenase (decarboxylating) (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
malic enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
malic enzyme activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxaloacetate decarboxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
malate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyruvate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of NADP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NAD-dependent malic enzyme, mitochondrial
Names
NAD-ME
malate dehydrogenase (oxaloacetate-decarboxylating)
malic enzyme 2, NAD(+)-dependent, mitochondrial
pyruvic-malic carboxylase
NP_001161807.1
NP_002387.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016198.1 RefSeqGene

    Range
    5001..75734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168335.1NP_001161807.1  NAD-dependent malic enzyme, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001161807.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC087687, BC000147, BI465083, CD370709, DA644731
    Consensus CDS
    CCDS54187.1
    UniProtKB/Swiss-Prot
    P23368
    Related
    ENSP00000372384.2, ENST00000382927.3
    Conserved Domains (1) summary
    PLN03129
    Location:28473
    PLN03129; NADP-dependent malic enzyme; Provisional
  2. NM_002396.5NP_002387.1  NAD-dependent malic enzyme, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002387.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC087687, AK313391, BI559761, CD370709, M55905
    Consensus CDS
    CCDS11948.1
    UniProtKB/Swiss-Prot
    P23368
    Related
    ENSP00000321070.5, ENST00000321341.10
    Conserved Domains (3) summary
    cd05312
    Location:280558
    NAD_bind_1_malic_enz; NAD(P) binding domain of malic enzyme (ME), subgroup 1
    PLN03129
    Location:28566
    PLN03129; NADP-dependent malic enzyme; Provisional
    pfam00390
    Location:89270
    malic; Malic enzyme, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    50878702..50949795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_935223.2 RNA Sequence

    Related
    ENST00000640967.1
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