Seroatlas · Human Serome Atlas

MTX2

Metaxin-2

Also known as: MTX2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75431
Gene: MTX2
Ensembl: ENSG00000128654
Chromosome: 2
Canonical length: 263 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli,Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

263 residues, UniProt reviewed canonical sequence.

>O75431|MTX2
     1  MSLVAEAFVS QIAAAEPWPE NATLYQQLKG EQILLSDNAA SLAVQAFLQM CNLPIKVVCR
    61  ANAEYMSPSG KVPFIHVGNQ VVSELGPIVQ FVKAKGHSLS DGLEEVQKAE MKAYMELVNN
   121  MLLTAELYLQ WCDEATVGEI THARYGSPYP WPLNHILAYQ KQWEVKRKMK AIGWGKKTLD
   181  QVLEDVDQCC QALSQRLGTQ PYFFNKQPTE LDALVFGHLY TILTTQLTND ELSEKVKNYS
   241  NLLAFCRRIE QHYFEDRGKG RLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 70 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 70 nTPM
tongue: 66 nTPM
testis: 60 nTPM
heart muscle: 47 nTPM
cerebral cortex: 47 nTPM
choroid plexus: 47 nTPM

Single-cell type

distal convoluted tubule cells: 254 nCPM
late primary spermatocytes: 254 nCPM
early primary spermatocytes: 232 nCPM
renal connecting tubule cells: 193 nCPM
myonuclei: 185 nCPM
oligodendrocytes: 185 nCPM

Immune cell

NK-cell: 20 nTPM
memory B-cell: 19 nTPM
T-reg: 17 nTPM
intermediate monocyte: 16 nTPM
naive CD8 T-cell: 16 nTPM
myeloid DC: 15 nTPM

Brain region

choroid plexus: 26 nTPM
cerebral cortex: 25 nTPM
white matter: 24 nTPM
hypothalamus: 23 nTPM
spinal cord: 22 nTPM
medulla oblongata: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTX2.

Disease | AllUniProt

Conditions MTX2 is implicated in, by any mechanism.

Mandibuloacral dysplasia progeroid syndrome (MDPS) MIM:619127

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 60 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mandibuloacral dysplasia progeroid syndrome
Progeroid mandibuloacral dysplasia
10 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.68
gnomAD pLI: 0.02
gnomAD missense Z: 0.84
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MTX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MTX2 as an antibody target. Whether an autoantibody or antibody against MTX2 could matter depends on whether native MTX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MTX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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