DMTN (Dematin Actin Binding Protein)
Erythrocyte membrane cytoskeletal protein involved in red blood cell shape and stability
Gene Information Card
| Symbol | DMTN |
|---|---|
| Full Name | Dematin Actin Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104497 |
| UniProt ID | Q08495 |
| OMIM ID | 125305 |
| HGNC ID | 2928 |
| Aliases | EPB49, DMT |
Description
DMTN encodes dematin, a cytoskeletal protein that binds actin filaments and is a component of the erythrocyte membrane skeleton. It plays a key role in maintaining red blood cell shape, deformability, and mechanical stability. Dematin interacts with spectrin and actin to form the junctional complex of the membrane skeleton. Mutations in DMTN are associated with hereditary elliptocytosis type 4 (HE4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary elliptocytosis type 4 (HE4) | Loss-of-function mutations in DMTN disrupt actin binding and membrane skeleton integrity, leading to elliptical red blood cells and hemolytic anemia. | ClinVar, OMIM #125305 |
| Hemolytic anemia (associated with HE4) | Mechanical fragility of erythrocytes due to defective dematin-actin interaction causes premature red cell destruction. | ClinVar, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood (whole blood) | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Bone marrow | 6.1 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythroleukemia cell line (K562) | 15.2 | High expression; model for erythroid differentiation |
| Lymphoblastoid cell line (GM12878) | 3.8 | Low expression |
| Hepatocellular carcinoma (HepG2) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; truncation of dematin protein |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; associated with HE4 |
| c.1045_1046del (p.Glu349fs) | Frameshift | Rare | Loss of actin-binding domain; severe elliptocytosis |
Mutation functional classification
Loss of Function (LOF)
Most DMTN mutations are loss-of-function, leading to reduced or absent dematin protein, disrupting erythrocyte membrane skeleton.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive for HE4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Erythrocyte membrane skeleton pathway (Reactome: R-HSA-5621480)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
Dematin is a 48 kDa actin-binding protein composed of a headpiece domain and a coiled-coil domain. It bundles actin filaments and links the membrane skeleton to the plasma membrane via interaction with spectrin and adducin. Dematin is phosphorylated by cAMP-dependent protein kinase, which modulates its actin-bundling activity. It is essential for erythrocyte mechanical stability and shape maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMTN Knockout HEK293 Cell Line | EDJ-KQ4550 | Human | 2039 | Details Get a Quote |
| DMTN Knockout A-549 Cell Line | EDJ-KQ27183 | Human | 2039 | Details Get a Quote |
| DMTN Knockout HCT 116 Cell Line | EDJ-KQ27184 | Human | 2039 | Details Get a Quote |
| DMTN Knockout HeLa Cell Line | EDJ-KQ27185 | Human | 2039 | Details Get a Quote |
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