DMBT1
Deleted in Malignant Brain Tumors 1
Gene Information Card
| Symbol | DMBT1 |
|---|---|
| Full Name | Deleted in Malignant Brain Tumors 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 1755 ncbi.nlm.nih.gov/gene/1755 |
| Ensembl ID | ENSG00000187908 |
| UniProt ID | Q9UGM3 |
| OMIM ID | 601969 |
| HGNC ID | 2926 |
| Aliases | GP340, SAG, muclin, CRP-ductin, MUC7BP |
Description
DMBT1 (Deleted in Malignant Brain Tumors 1) encodes a scavenger receptor cysteine-rich (SRCR) domain-containing protein involved in innate immune defense and epithelial differentiation. It functions as a pattern recognition receptor that binds bacteria and viruses, and is implicated in tumor suppression. Loss or reduced expression of DMBT1 is observed in various cancers, including brain, lung, and colorectal tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malignant brain tumors | Loss of heterozygosity and reduced expression at 10q26.13 | OMIM 601969; NCBI Gene |
| Lung cancer | Epigenetic silencing and loss of protein expression | COSMIC; PubMed studies |
| Colorectal cancer | Decreased expression associated with tumor progression | COSMIC; ClinVar |
| Inflammatory bowel disease | Altered expression in intestinal epithelium | UniProt; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Salivary gland | 45.2 | High |
| Trachea | 8.3 | Low |
| Colon | 6.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | Moderate expression |
| HT-29 (colorectal adenocarcinoma) | 4.7 | Low expression |
| U87MG (glioblastoma) | 0.8 | Very low/absent |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.567_568del | Frameshift deletion | 0.01% (COSMIC) | Predicted loss of function |
| c.890G>A | Nonsense | 0.005% (COSMIC) | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in DMBT1 lead to truncated protein or nonsense-mediated decay, reducing tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported for DMBT1.
Dominant Negative (DN)
No dominant-negative mutations documented for DMBT1.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity (GO:0005044) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • phagocytosis (GO:0006910) |
| • immune response (GO:0006955) | • integral component of membrane (GO:0016021) |
| • innate immune response (GO:0045087) |
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Scavenger receptors (KEGG: hsa04640)
Protein Summary
The DMBT1 protein (also known as gp340 or salivary agglutinin) is a secreted and membrane-associated glycoprotein containing multiple SRCR domains. It binds to a variety of pathogens, including Streptococcus mutans and influenza virus, mediating agglutination and clearance. In cancer, DMBT1 acts as a putative tumor suppressor; its loss correlates with malignant progression in brain, lung, and colorectal cancers. The protein is highly expressed in salivary glands and lung, with lower levels in gastrointestinal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMBT1 Knockout HEK293 Cell Line | EDJ-KQ3712 | Human | 1755 | Details Get a Quote |
| DMBT1 Knockout HeLa Cell Line | EDJ-KQ27010 | Human | 1755 | Details Get a Quote |
| DMBT1 Knockout A-549 Cell Line | EDJ-KQ61565 | Human | 1755 | Details Get a Quote |
| DMBT1 Knockout HCT 116 Cell Line | EDJ-KQ70056 | Human | 1755 | Details Get a Quote |
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