TMX2 Chromosome 11
Thioredoxin related transmembrane protein 2
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What This Gene Does
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]
Gene Info
Gene Group
"Protein disulfide isomerases|Thioredoxin domain containing "
Locus Type
gene with protein product
Location
11q12.1
Ensembl
ENSG00000213593
Associated Conditions (6)
Neurodevelopmental disorder with microcephaly
cortical malformations
and spasticity
Abnormality of the nervous system
See cases
Inborn genetic diseases
Key Variants
RS370455806
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS758529293
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS960444778
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS2495048806
Likely pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS377715702
Likely pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS1209396791
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS1274824614
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS1398376742
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS145634348
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS367990143
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
RS752744834
Pathogenic
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370455806 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS758529293 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS960444778 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS2495048806 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS377715702 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS1209396791 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS1274824614 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS1398376742 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS145634348 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS367990143 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| RS752744834 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |