MTX2 (metaxin 2)

2014-11-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
MDPS,metaxin-2
FUSION GENES

Other Information

Locus ID:

NCBI: 10651
MIM: 608555
HGNC: 7506
Ensembl: ENSG00000128654

Variants:

dbSNP: 10651
ClinVar: 10651
TCGA: ENSG00000128654
COSMIC: MTX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128654ENST00000249442O75431
ENSG00000128654ENST00000420864F8WCW1
ENSG00000128654ENST00000423461F8WE26
ENSG00000128654ENST00000443241C9JNK6
ENSG00000128654ENST00000452865C9JAZ1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382501562024Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.0
382501562024Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.0
329178872020Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.20
329178872020Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
175106552007Conserved roles of Sam50 and metaxins in VDAC biogenesis.49
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.87
175106552007Conserved roles of Sam50 and metaxins in VDAC biogenesis.49
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.87

Citation

Dessen P

MTX2 (metaxin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70579/mtx2-(metaxin-2)