Gene Gene information from NCBI Gene database.
Entrez ID 54495
Gene name Thioredoxin related transmembrane protein 3
Gene symbol TMX3
Synonyms (NCBI Gene)
PDIA13TXNDC10
Chromosome 18
Chromosome location 18q22.1
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 canonical protein encoded by this gene has an N-terminal ER-signal seque
miRNA miRNA information provided by mirtarbase database.
486
miRTarBase ID miRNA Experiments Reference
MIRT016223 hsa-miR-590-3p Sequencing 20371350
MIRT020010 hsa-miR-375 Microarray 20215506
MIRT020633 hsa-miR-155-5p Proteomics 18668040
MIRT027953 hsa-miR-93-5p Sequencing 20371350
MIRT038695 hsa-miR-30c-2-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 15623505
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616102 24718 ENSG00000166479
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JJ7
Protein name Protein disulfide-isomerase TMX3 (EC 5.3.4.1) (Thioredoxin domain-containing protein 10) (Thioredoxin-related transmembrane protein 3)
Protein function Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase (PubMed:15623505). Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 26 128 Thioredoxin Domain
PF13848 Thioredoxin_6 158 338 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in brain, testis, lung, skin, kidney, uterus, bone, stomach, liver, prostate, placenta, eye and muscle. {ECO:0000269|PubMed:15623505}.
Sequence
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations