ME2 malic enzyme 2 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:6984
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: mouse all
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Genomic context

Location:: 18q21.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (50879118..50954257)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (51080843..51155984)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (48405488..48480627)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SIRT5-mediated ME2 desuccinylation promotes cancer growth by enhancing mitochondrial respiration.
Title: SIRT5-mediated ME2 desuccinylation promotes cancer growth by enhancing mitochondrial respiration.
Malic enzyme 2 maintains protein stability of mutant p53 through 2-hydroxyglutarate.
Title: Malic enzyme 2 maintains protein stability of mutant p53 through 2-hydroxyglutarate.
Expression levels of SIX1, ME2, and AP2M1 in adenoid cystic carcinoma and mucoepidermoid carcinoma.
Title: Expression levels of SIX1, ME2, and AP2M1 in adenoid cystic carcinoma and mucoepidermoid carcinoma.
influences susceptibility to adolescent-onset genetic generalized epilepsy
Title: Replication, reanalysis, and gene expression: ME2 and genetic generalized epilepsy.
ME2 was involved in glioblastoma multiforme growth, invasion, migration, Reactive oxygen species and ATP production.
Title: The mechanisms of malic enzyme 2 in the tumorigenesis of human gliomas.
The chromosome 18q21 deletion in nearly one third of pancreatic adenocarcinomas eliminates not only the tumor suppressor SMAD4, but also neighboring genes with important cellular roles, such as ME2
Title: Collateral Lethality in Pancreatic Cancer.
deletion of malic enzyme 2 confers collateral lethality in pancreatic cancer
Title: Genomic deletion of malic enzyme 2 confers collateral lethality in pancreatic cancer.
ME1/ME2 expression phenotype may have a potential to be a valuable marker for sebaceous differentiation in sebaceous lesions.
Title: Expression of Malic Enzymes in Sebaceous Lesions.
Data indicate that malic enzyme 2 knockdown impacts phosphatidylinositol 3-kinases/proto-oncogene protein akt (PI3K/AKT) signaling.
Title: Knockdown of malic enzyme 2 suppresses lung tumor growth, induces differentiation and impacts PI3K/AKT signaling.
ME2 might be an important factor in melanoma progression and a novel biomarker of invasion.
Title: Human mitochondrial NAD(P)(+)-dependent malic enzyme participates in cutaneous melanoma progression and invasion.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71383 (e-PCR)
- UniSTS:17930

GDB:312714 (e-PCR)
- UniSTS:156429

GDB:434012 (e-PCR)
- UniSTS:157204

SHGC-36368 (e-PCR)
- UniSTS:70183

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

A006G43 (e-PCR)
- UniSTS:17782

G32352 (e-PCR)
- UniSTS:116943

RH104189 (e-PCR)
- UniSTS:98514

D18S961 (e-PCR)
- UniSTS:82140

D18S46 (e-PCR)
- UniSTS:147185

D18S1338 (e-PCR)
- UniSTS:59134

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables malate dehydrogenase (decarboxylating) (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables malate dehydrogenase (decarboxylating) (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables malic enzyme activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxaloacetate decarboxylase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in malate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyruvate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of NADP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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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

EC 1.1.1.38

NP_002387.1

EC 1.1.1.38

NCBI Reference Sequences (RefSeq)

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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

NG_016198.2 RefSeqGene

Range

5002..80141

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168335.2 → NP_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

Consensus CDS

CCDS54187.1

UniProtKB/TrEMBL

A0A1W2PQF8

Related

ENSP00000372384.2, ENST00000382927.3

Conserved Domains (1) summary

PLN03129
Location:28 → 473

PLN03129; NADP-dependent malic enzyme; Provisional
NM_002396.5 → NP_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

B2R8J2, P23368, Q9BWL6, Q9BYG1, Q9H4B2

UniProtKB/TrEMBL

A0A1W2PQH3

Related

ENSP00000321070.5, ENST00000321341.11

Conserved Domains (3) summary

cd05312
Location:280 → 558

NAD_bind_1_malic_enz; NAD(P) binding domain of malic enzyme (ME), subgroup 1

PLN03129
Location:28 → 566

PLN03129; NADP-dependent malic enzyme; Provisional

pfam00390
Location:89 → 270

malic; Malic enzyme, N-terminal domain