TXNDC12 Gene Summary [Human]
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Details
| Type | Processed Transcript |
| Official Symbol | TXNDC12 |
| Official Name | thioredoxin domain containing 12 [Source:HGNC Symbol;Acc:HGNC:24626] |
| Ensembl ID | ENSG00000117862 |
| Bio databases IDs | |
| Aliases | thioredoxin domain containing 12, endoplasmic reticulum thioredoxin superfamily member, 18 kDa, anterior gradient homolog 1 (Xenopus laevis), protein disulfide isomerase family A, member 16 |
| Synonyms | 0610040B21Rik,AG1,AGR1,ERP16,ERP18,ERP19,hAG-1,hTLP19,PDIA16,RGD1305960,thioredoxin domain containing 12,thioredoxin domain containing 12 (endoplasmic reticulum),TLP19 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TXNDC12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein disulfide oxidoreductase
- Thioredoxin-like
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein-disulfide reductase (glutathione)
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- diabetes mellitus
role in cell
- production in
- cell death
- peroxidation in
- degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TXNDC12 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein disulfide oxidoreductase activity
- protein binding
- protein-disulfide reductase (glutathione) activity