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Aliases for MTX2 Gene

Aliases for MTX2 Gene

  • Metaxin 2 2 3 5
  • Mitochondrial Outer Membrane Import Complex Protein 2 3 4
  • Metaxin-2 3

External Ids for MTX2 Gene

Previous GeneCards Identifiers for MTX2 Gene

  • GC02P175196
  • GC02P175805
  • GC02P177098
  • GC02P177336
  • GC02P176959
  • GC02P176844
  • GC02P177134
  • GC02P169011

Summaries for MTX2 Gene

Entrez Gene Summary for MTX2 Gene

  • The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]

GeneCards Summary for MTX2 Gene

MTX2 (Metaxin 2) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. An important paralog of this gene is MTX1.

UniProtKB/Swiss-Prot for MTX2 Gene

  • Involved in transport of proteins into the mitochondrion.

Additional gene information for MTX2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTX2 Gene

Genomics for MTX2 Gene

GeneHancer (GH) Regulatory Elements for MTX2 Gene

Promoters and enhancers for MTX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I176268 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 334 1.9 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B MTX2 HNRNPA3 DNAJC19P5 GC02P176273
GH02I176297 Enhancer 0.9 UCNEbase 0.3 +27.9 27869 0.4 MEIS2 LEF1 PKNOX1 ARNT BACH1 FEZF1 ZNF2 ZNF335 ZFHX2 CTBP1 HAGLR HOXD1 GC02P176303 GC02P176273 MTX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTX2 gene promoter:

Genomic Locations for MTX2 Gene

Genomic Locations for MTX2 Gene
68,631 bases
Plus strand

Genomic View for MTX2 Gene

Genes around MTX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTX2 Gene

Proteins for MTX2 Gene

  • Protein details for MTX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8JZZ4
    • Q53S50
    • Q53SQ2
    • Q5M7Z6
    • Q8IZ68

    Protein attributes for MTX2 Gene

    263 amino acids
    Molecular mass:
    29763 Da
    Quaternary structure:
    • Interacts with MTX1/metaxin-1. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex.

    Alternative splice isoforms for MTX2 Gene


neXtProt entry for MTX2 Gene

Post-translational modifications for MTX2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MTX2 Gene

Domains & Families for MTX2 Gene

Gene Families for MTX2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MTX2 Gene

Suggested Antigen Peptide Sequences for MTX2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the metaxin family.
  • Belongs to the metaxin family.
genes like me logo Genes that share domains with MTX2: view

Function for MTX2 Gene

Molecular function for MTX2 Gene

GENATLAS Biochemistry:
metaxin 2,metaxin 1 binding protein,ubiquitously expressed,also homolog to C elegans Cel ZC97.1,located on the cytosolic face of the outer mitochondrial membrane,putatively involved in protein import into mitochondria
UniProtKB/Swiss-Prot Function:
Involved in transport of proteins into the mitochondrion.

Phenotypes From GWAS Catalog for MTX2 Gene

Gene Ontology (GO) - Molecular Function for MTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MTX2: view
genes like me logo Genes that share phenotypes with MTX2: view

miRNA for MTX2 Gene

miRTarBase miRNAs that target MTX2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTX2 Gene

Localization for MTX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTX2 Gene

Mitochondrion outer membrane. Mitochondrion.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTX2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA 25997101
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTX2: view

Pathways & Interactions for MTX2 Gene

genes like me logo Genes that share pathways with MTX2: view

Pathways by source for MTX2 Gene

2 Reactome pathways for MTX2 Gene

Gene Ontology (GO) - Biological Process for MTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion IEA --
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport TAS 10381257
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MTX2: view

No data available for SIGNOR curated interactions for MTX2 Gene

Drugs & Compounds for MTX2 Gene

No Compound Related Data Available

Transcripts for MTX2 Gene

Unigene Clusters for MTX2 Gene

Metaxin 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTX2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP2: -

Relevant External Links for MTX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTX2 Gene

This gene is overexpressed in Heart (12.2) and Brain (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTX2 Gene

Protein tissue co-expression partners for MTX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTX2 Gene:


SOURCE GeneReport for Unigene cluster for MTX2 Gene:

genes like me logo Genes that share expression patterns with MTX2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTX2 Gene

Orthologs for MTX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MTX2 33 34
  • 96.96 (n)
(Canis familiaris)
Mammalia MTX2 33 34
  • 94.42 (n)
(Bos Taurus)
Mammalia MTX2 33 34
  • 94.1 (n)
(Mus musculus)
Mammalia Mtx2 33 16 34
  • 92.14 (n)
(Rattus norvegicus)
Mammalia Mtx2 33
  • 90.75 (n)
(Ornithorhynchus anatinus)
Mammalia MTX2 34
  • 85 (a)
(Monodelphis domestica)
Mammalia MTX2 34
  • 79 (a)
(Gallus gallus)
Aves MTX2 33 34
  • 80.05 (n)
(Anolis carolinensis)
Reptilia MTX2 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtx2 33
  • 78.08 (n)
Str.15350 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13610 33
(Danio rerio)
Actinopterygii mtx2 33 34
  • 70.14 (n)
Dr.23871 33
fruit fly
(Drosophila melanogaster)
Insecta CG8004 35 33 34
  • 52.6 (n)
CG5662 35 34
  • 36 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008150 33
  • 48.13 (n)
(Caenorhabditis elegans)
Secernentea mtx-2 33 34
  • 50.13 (n)
Species where no ortholog for MTX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTX2 Gene

Gene Tree for MTX2 (if available)
Gene Tree for MTX2 (if available)

Paralogs for MTX2 Gene

Paralogs for MTX2 Gene

(5) SIMAP similar genes for MTX2 Gene using alignment to 6 proteins: Pseudogenes for MTX2 Gene

genes like me logo Genes that share paralogs with MTX2: view

Variants for MTX2 Gene

Sequence variations from dbSNP and Humsavar for MTX2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000008573 -- 176,303,902(+) A/G intron_variant
rs1000064740 -- 176,296,824(+) T/G intron_variant
rs1000142252 -- 176,312,292(+) C/A/T intron_variant
rs1000149025 -- 176,333,675(+) T/C intron_variant
rs1000158806 -- 176,333,424(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MTX2 Gene

Variant ID Type Subtype PubMed ID
dgv4105n100 CNV gain 25217958
dgv4106n100 CNV loss 25217958
dgv4107n100 CNV loss 25217958
dgv4108n100 CNV loss 25217958
esv2676194 CNV deletion 23128226
esv3593438 CNV gain 21293372
esv3593439 CNV loss 21293372
esv3593440 CNV loss 21293372
esv3593441 CNV gain 21293372
nsv1001933 CNV gain 25217958
nsv459952 CNV loss 19166990
nsv523803 CNV gain 19592680
nsv583674 CNV loss 21841781

Variation tolerance for MTX2 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTX2 Gene

Disorders for MTX2 Gene

Additional Disease Information for MTX2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MTX2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTX2 Gene

Publications for MTX2 Gene

  1. Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane. (PMID: 10381257) Armstrong LC … Bornstein P (Journal of cellular biochemistry 1999) 2 3 4 58
  2. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4 58
  3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PMID: 22114354) Alkhaja AK … Deckers M (Molecular biology of the cell 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for MTX2 Gene

Sources for MTX2 Gene

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