DAB2 Gene - DAB Adaptor Protein 2
A key tumor suppressor and endocytic adaptor protein involved in clathrin-mediated endocytosis and cell signaling.
Gene Information Card
| Symbol | DAB2 |
|---|---|
| Full Name | DAB adaptor protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.1 |
| NCBI Gene ID | 1601 ncbi.nlm.nih.gov/gene/1601 |
| Ensembl ID | ENSG00000153071 |
| UniProt ID | P98082 |
| OMIM ID | 601239 |
| HGNC ID | 2662 |
| Aliases | DOC-2, DOC2, p96, DAB2P |
Description
DAB2 (DAB adaptor protein 2) encodes a member of the disabled gene family. The protein functions as a clathrin-associated adaptor complex involved in clathrin-mediated endocytosis and as a tumor suppressor by modulating cell growth, differentiation, and signaling pathways such as TGF-β and Wnt. It is frequently downregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Loss of DAB2 expression leads to increased cell proliferation and migration; acts as a tumor suppressor. | PMID: 10652318, COSMIC |
| Breast cancer | Reduced DAB2 expression correlates with poor prognosis; involved in TGF-β signaling. | PMID: 19029980, ClinVar |
| Prostate cancer | DAB2 downregulation promotes epithelial-mesenchymal transition (EMT). | PMID: 20010872 |
| Colorectal cancer | Hypermethylation of DAB2 promoter silences expression, contributing to tumorigenesis. | PMID: 15735745 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Liver | 22.3 | High |
| Lung | 15.1 | Medium |
| Breast | 12.8 | Medium |
| Ovary | 10.4 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.2 | High expression in embryonic kidney cells |
| MCF7 | 8.7 | Moderate expression in breast cancer cell line |
| HeLa | 6.1 | Low expression in cervical cancer cells |
| A549 | 4.5 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | Unknown significance |
| c.789_790insA | Frameshift | Rare | Loss of function |
| Promoter hypermethylation | Epigenetic | Frequent in cancers | Silencing of gene expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375Ter, c.789_790insA) result in truncated or absent protein, impairing endocytosis and tumor suppression.
Gain of Function (GOF)
No documented gain-of-function mutations in DAB2.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Wnt signaling pathway (KEGG: hsa04310)
Protein Summary
DAB2 is a 770-amino acid adaptor protein containing an N-terminal phosphotyrosine-binding (PTB) domain and multiple C-terminal clathrin-binding motifs. It facilitates clathrin-coated pit assembly and receptor internalization. As a tumor suppressor, it inhibits cell growth and migration by modulating TGF-β and Wnt signaling. Loss of DAB2 expression is common in epithelial cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAB2IP Knockout HEK293 Cell Line | EDJ-KQ1489 | Human | 153090 | Details Get a Quote |
| DAB2 Knockout HEK293 Cell Line | EDJ-KQ4416 | Human | 1601 | Details Get a Quote |
| DAB2IP Knockout A-549 Cell Line | EDJ-KQ21081 | Human | 153090 | Details Get a Quote |
| DAB2IP Knockout HCT 116 Cell Line | EDJ-KQ21082 | Human | 153090 | Details Get a Quote |
| DAB2IP Knockout HeLa Cell Line | EDJ-KQ21083 | Human | 153090 | Details Get a Quote |
| DAB2 Knockout A-549 Cell Line | EDJ-KQ26944 | Human | 1601 | Details Get a Quote |
| DAB2 Knockout HCT 116 Cell Line | EDJ-KQ26945 | Human | 1601 | Details Get a Quote |
| DAB2 Knockout HeLa Cell Line | EDJ-KQ25675 | Human | 1601 | Details Get a Quote |
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