TMX2 - thioredoxin related transmembrane protein 2 Gene
Also Known as PIG26; CGI-31; PDIA12; NEDMCMS; TXNDC14
Species: Homo sapiens
About TMX2
This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 42.0), thyroid (RPKM 36.4) and 25 other tissues.
Summary
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]
TMX2 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001144012.3 | NP_001137484.1 | thioredoxin-related transmembrane protein 2 isoform 2 |
| NM_001347890.2 | NP_001334819.1 | thioredoxin-related transmembrane protein 2 isoform 4 |
| NM_001347891.2 | NP_001334820.1 | thioredoxin-related transmembrane protein 2 isoform 5 |
| NM_001347892.2 | NP_001334821.1 | thioredoxin-related transmembrane protein 2 isoform 6 |
| NM_001347893.2 | NP_001334822.1 | thioredoxin-related transmembrane protein 2 isoform 7 |
| NM_001347894.2 | NP_001334823.1 | thioredoxin-related transmembrane protein 2 isoform 3 |
| NM_001347895.2 | NP_001334824.1 | thioredoxin-related transmembrane protein 2 isoform 3 |
| NM_001347896.2 | NP_001334825.1 | thioredoxin-related transmembrane protein 2 isoform 3 |
| NM_001347898.2 | NP_001334827.1 | thioredoxin-related transmembrane protein 2 isoform 8 |
| NM_015959.4 | NP_057043.1 | thioredoxin-related transmembrane protein 2 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables disulfide oxidoreductase activity |
IDA
IDA: Inferred from direct assay
|
31735293 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
31735293 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in brain development |
IMP
IMP: Inferred from mutant phenotype
|
31735293 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
31735293 | GOA |
| is active in mitochondria-associated endoplasmic reticulum membrane contact site |
IDA
IDA: Inferred from direct assay
|
22045338 | GOA |
| located in mitochondria-associated endoplasmic reticulum membrane contact site |
IDA
IDA: Inferred from direct assay
|
31735293 | GOA |
| located in mitochondrion |
IMP
IMP: Inferred from mutant phenotype
|
31735293 | GOA |
TMX2 Protein Structure
Thioredoxin: Thioredoxin (140 - 230)
- 0
- 100
- 200
- 296 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thioredoxin-related transmembrane protein 2 |
|
TMX2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TMX2 | Q9Y320 | HSD17B11 | Homo sapiens | Q8NBQ5 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | HSD17B11 | Homo sapiens | Q8NBQ5 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | REEP2 | Homo sapiens | Q9BRK0 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | REEP2 | Homo sapiens | Q9BRK0 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | FAM241B | Homo sapiens | Q96D05-2 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | TMEM71 | Homo sapiens | Q6P5X7-2 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | TMEM71 | Homo sapiens | Q6P5X7-2 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | RNF24 | Homo sapiens | Q9Y225-2 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | MFSD14B | Homo sapiens | Q5SR56 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | MFSD14B | Homo sapiens | Q5SR56 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | IER3IP1 | Homo sapiens | Q9Y5U9 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | TMEM51 | Homo sapiens | Q9NW97 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | TMEM51 | Homo sapiens | Q9NW97 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | STATH | Homo sapiens | P02808 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | REEP4 | Homo sapiens | Q9H6H4 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | REEP4 | Homo sapiens | Q9H6H4 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | YIPF1 | Homo sapiens | Q9Y548 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | INSIG2 | Homo sapiens | Q9Y5U4 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | SELENOK | Homo sapiens | Q9Y6D0 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | PEX16 | Homo sapiens | Q9Y5Y5 | 32296183 | |
|
Intra
|
TMX2 | Q9Y320 | UBE2J1 | Homo sapiens | Q9Y385 | 32296183 |
Recombinant TMX2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71371 | TMX2 Protein, Human (His) | Q9Y320-1 (M125-K296) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
|
| Congenital Nervous System Abnormality |
|
|
| Nervous System Disease |
|
|
| Polymicrogyria |
|
|
| Lissencephaly |
|
|
| Microcephaly |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TMX2 | MGD | MGI:1914208 |
| Canis familiaris | TMX2 | VGNC | VGNC:52054 |
| Rattus norvegicus | TMX2 | RGD | RGD:1359456 |
| Felis catus | TMX2 | VGNC | VGNC:81104 |
| Bos taurus | TMX2 | VGNC | VGNC:54897 |
| Others | TMX2 | NCBI |