TMX2

Protein identityUniProt · HPA

UniProt accession

Q9Y320

Gene

TMX2

Ensembl

ENSG00000213593

Chromosome

11

Canonical length

296 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

296 residues, UniProt reviewed canonical sequence.

>Q9Y320|TMX2
     1  MAVLAPLIAL VYSVPRLSRW LAQPYYLLSA LLSAAFLLVR KLPPLCHGLP TQREDGNPCD
    61  FDWREVEILM FLSAIVMMKN RRSITVEQHI GNIFMFSKVA NTILFFRLDI RMGLLYITLC
   121  IVFLMTCKPP LYMGPEYIKY FNDKTIDEEL ERDKRVTWIV EFFANWSNDC QSFAPIYADL
   181  SLKYNCTGLN FGKVDVGRYT DVSTRYKVST SPLTKQLPTL ILFQGGKEAM RRPQIDKKGR
   241  AVSWTFSEEN VIREFNLNEL YQRAKKLSKA GDNIPEEQPV ASTPTTVSDG ENKKDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMX2 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

1

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

188 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMX2.

Disease | AllUniProt

Conditions TMX2 is implicated in, by any mechanism.

• Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) MIM:618730

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

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)

0.47

gnomAD pLI

0.65

gnomAD missense Z

0.22

DepMap mean gene effect

-0.25

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

• brain development

Molecular functions

• disulfide oxidoreductase activity
• identical protein binding

Cellular components

• endoplasmic reticulum membrane
• mitochondria-associated endoplasmic reticulum membrane contact site
• mitochondrial membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Thioredoxin domain
• Thioredoxin-like superfamily
• Thioredoxin
• Thioredoxin-related transmembrane protein 2, thioredoxin domain
• Thioredoxin-related transmembrane protein 2

KeywordsUniProt

• Disulfide bond
• Endoplasmic reticulum
• Intellectual disability
• Lissencephaly
• Membrane
• Mitochondrion
• Neurodegeneration
• Phosphoprotein
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TMX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP2A2
• CANX
• HSD3B7
• OTULINL
• TTMP