TMIGD1 (Transmembrane and Immunoglobulin Domain Containing 1)
A cell adhesion molecule implicated in epithelial integrity and tumor suppression, with emerging roles in kidney and intestinal biology.
Gene Information Card
| Symbol | TMIGD1 |
|---|---|
| Full Name | Transmembrane and immunoglobulin domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 100287756 ncbi.nlm.nih.gov/gene/100287756 |
| Ensembl ID | ENSG00000204613 |
| UniProt ID | A6NMG0 |
| OMIM ID | 617632 |
| HGNC ID | 26883 |
| Aliases | FLJ45036, MGC129660 |
Description
TMIGD1 encodes a type I transmembrane protein belonging to the immunoglobulin superfamily. It contains an N-terminal signal peptide, an extracellular domain with immunoglobulin-like domains, a transmembrane region, and a cytoplasmic tail. TMIGD1 is primarily expressed in epithelial tissues, particularly in the kidney and intestine, where it localizes to cell junctions and participates in cell-cell adhesion. It has been implicated in maintaining epithelial integrity and may act as a tumor suppressor in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Reduced TMIGD1 expression is associated with increased cell proliferation and migration; may act as a tumor suppressor via regulation of cell adhesion and signaling. | Expression studies in human tissues and cell lines; functional assays (e.g., knockdown/overexpression) show altered cell behavior. |
| Renal cell carcinoma | Loss of TMIGD1 expression correlates with tumor progression and poor prognosis; potential role in epithelial-mesenchymal transition (EMT). | Immunohistochemistry and mRNA analysis in patient samples; in vitro studies. |
| Inflammatory bowel disease (IBD) | Altered TMIGD1 expression may affect intestinal barrier function, contributing to inflammation. | Gene expression profiling in IBD patient samples; animal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | High expression in renal tubules |
| Small intestine | 8.7 | Moderate expression in enterocytes |
| Colon | 6.5 | Moderate expression in colonic epithelium |
| Liver | 1.2 | Low expression |
| Lung | 0.8 | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | 15.2 | High expression; used as model for intestinal epithelium |
| HCT116 (colorectal carcinoma) | 3.4 | Reduced expression compared to normal; associated with tumorigenesis |
| HEK293 (embryonic kidney) | 10.1 | High expression; useful for functional studies |
| A549 (lung carcinoma) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | Rare (0.01% in gnomAD) | Potential disruption of disulfide bond in Ig domain; may affect protein folding and adhesion. |
| c.456delA (p.Lys152fs) | Frameshift | Not reported in population databases | Predicted to cause premature truncation; likely loss of function. |
| c.789G>A (p.Trp263Ter) | Nonsense | Somatic in colorectal cancer (COSMIC) | Loss of function; may contribute to tumor progression. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift, nonsense) are predicted to reduce or abolish TMIGD1 protein function, leading to impaired cell adhesion and increased tumorigenic potential.
Gain of Function (GOF)
No evidence for gain-of-function mutations; TMIGD1 generally acts as a tumor suppressor, and overexpression is not associated with oncogenic activity.
Dominant Negative (DN)
Missense mutations in the extracellular domain (e.g., p.Arg41Cys) may exert a dominant-negative effect by interfering with dimerization or ligand binding, but this remains speculative.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • cell-cell junction |
| • plasma membrane | • protein homodimerization activity |
| • signal transduction |
Pathways
• Cell adhesion molecules (CAMs)
• Epithelial cell signaling in Helicobacter pylori infection (potential)
• Wnt signaling pathway (modulation)
Protein Summary
The TMIGD1 protein is a single-pass transmembrane protein with two immunoglobulin-like domains in its extracellular region. It is localized at cell-cell junctions in epithelial cells, where it mediates homophilic adhesion. The cytoplasmic tail contains potential phosphorylation sites and interacts with signaling molecules. TMIGD1 is thought to regulate cell proliferation, migration, and differentiation. Its expression is frequently downregulated in cancers, suggesting a tumor suppressor role. Additionally, it may be involved in maintaining intestinal barrier integrity and renal tubular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMIGD1 Knockout HEK293 Cell Line | EDJ-KQ15852 | Human | 388364 | Details Get a Quote |
| TMIGD1 Knockout HeLa Cell Line | EDJ-KQ60019 | Human | 388364 | Details Get a Quote |
| TMIGD1 Knockout A-549 Cell Line | EDJ-KQ68480 | Human | 388364 | Details Get a Quote |
| TMIGD1 Knockout HCT 116 Cell Line | EDJ-KQ76858 | Human | 388364 | Details Get a Quote |
