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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.

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

Regulatory Elements for MTX2 Gene

Enhancers for MTX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G176268 1.1 ENCODE 0.7 +0.3 340 1.8 HDGF HNRNPUL1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 DNAJC19P5 MTX2 GC02P176273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTX2 on UCSC Golden Path with GeneCards custom track

Promoters for MTX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126769 306 1800 HDGF HNRNPUL1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for MTX2 Gene

Chromosome:
2
Start:
176,269,395 bp from pter
End:
176,338,025 bp from pter
Size:
68,631 bases
Orientation:
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:
    O75431-MTX2_HUMAN
    Recommended name:
    Metaxin-2
    Protein Accession:
    O75431
    Secondary Accessions:
    • A8JZZ4
    • Q53S50
    • Q53SQ2
    • Q5M7Z6
    • Q8IZ68

    Protein attributes for MTX2 Gene

    Size:
    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, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9.

    Alternative splice isoforms for MTX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTX2 Gene

Post-translational modifications for MTX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTX2 Gene

Domains & Families for MTX2 Gene

Suggested Antigen Peptide Sequences for MTX2 Gene

Graphical View of Domain Structure for InterPro Entry

O75431

UniProtKB/Swiss-Prot:

MTX2_HUMAN :
  • Belongs to the metaxin family.
Family:
  • Belongs to the metaxin family.
genes like me logo Genes that share domains with MTX2: view

No data available for Gene Families for MTX2 Gene

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.

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

Animal Model Products

miRNA for MTX2 Gene

miRTarBase miRNAs that target MTX2

Inhibitory RNA Products

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

COMPARTMENTS
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

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:

Inhibitory RNA Products

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
SP1:
SP2: -

Relevant External Links for MTX2 Gene

GeneLoc Exon Structure for
MTX2
ECgene alternative splicing isoforms for
MTX2

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:

MTX2

SOURCE GeneReport for Unigene cluster for MTX2 Gene:

Hs.470728
genes like me logo Genes that share expression patterns with MTX2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MTX2 34 35
  • 96.96 (n)
dog
(Canis familiaris)
Mammalia MTX2 34 35
  • 94.42 (n)
cow
(Bos Taurus)
Mammalia MTX2 34 35
  • 94.1 (n)
mouse
(Mus musculus)
Mammalia Mtx2 34 16 35
  • 92.14 (n)
rat
(Rattus norvegicus)
Mammalia Mtx2 34
  • 90.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTX2 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTX2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTX2 34 35
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia MTX2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtx2 34
  • 78.08 (n)
Str.15350 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13610 34
zebrafish
(Danio rerio)
Actinopterygii mtx2 34 35
  • 70.14 (n)
Dr.23871 34
fruit fly
(Drosophila melanogaster)
Insecta CG8004 36 34 35
  • 52.6 (n)
CG5662 36 35
  • 36 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008150 34
  • 48.13 (n)
worm
(Caenorhabditis elegans)
Secernentea mtx-2 34 35
  • 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

ENSEMBL:
Gene Tree for MTX2 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs1000008573 -- 176,303,902(+) ATTGC(A/G)ACTTA intron-variant
rs1000064740 -- 176,296,824(+) TTTGC(G/T)TTATG intron-variant
rs1000142252 -- 176,312,292(+) TTGTT(A/C/T)ATTAA intron-variant
rs1000149025 -- 176,333,675(+) TGTGA(C/T)GGACC intron-variant
rs1000158806 -- 176,333,424(+) ATCTA(A/G)TAAAA 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)

Relevant External Links for MTX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTX2

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

Disorders for MTX2 Gene

Relevant External Links for MTX2

Genetic Association Database (GAD)
MTX2
Human Genome Epidemiology (HuGE) Navigator
MTX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTX2

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 L.C. … Bornstein P. (J. Cell. Biochem. 1999) 2 3 4 64
  2. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V. … Harper J.W. (Elife 2015) 3 4 64
  3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PMID: 22114354) Alkhaja A.K. … Deckers M. (Mol. Biol. Cell 2012) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for MTX2 Gene

Sources for MTX2 Gene

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