TMX2

Chr 11AR

thioredoxin related transmembrane protein 2

Also known as: CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14

NCBI Gene: 51075 ENSG00000213593 UniProt: Q9Y320 OMIM: 616715

The protein is a disulfide isomerase that catalyzes protein folding and thiol-disulfide reactions in the endoplasmic reticulum and regulates cellular redox state, protein folding, and mitochondrial activity. Biallelic mutations cause neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.47), indicating intolerance to protein-disrupting changes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.471 OMIM phenotype

Clinical Summary— TMX2

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.65) — some intolerance to loss-of-function variants.

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