DAB2IP
DAB2 Interacting Protein
Gene Information Card
| Symbol | DAB2IP |
|---|---|
| Full Name | DAB2 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 153090 ncbi.nlm.nih.gov/gene/153090 |
| Ensembl ID | ENSG00000136842 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 609205 |
| HGNC ID | 17294 |
| Aliases | AIP1, AF9q34, DIP1/2, ASK1 interacting protein 1 |
Description
DAB2IP (DAB2 Interacting Protein) encodes a Ras GTPase-activating protein (RasGAP) that functions as a tumor suppressor by inhibiting RAS signaling and modulating cell growth, apoptosis, and inflammation. It interacts with DAB2 and ASK1, playing roles in cell migration and stress responses. Loss or downregulation of DAB2IP is frequently observed in various cancers, particularly prostate cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Loss of DAB2IP expression leads to increased RAS activity and tumor progression. | ClinVar, COSMIC |
| Hepatocellular Carcinoma | Epigenetic silencing of DAB2IP promotes cell proliferation and metastasis. | NCBI Gene, OMIM |
| Colorectal Cancer | Reduced DAB2IP levels correlate with poor prognosis and enhanced invasion. | COSMIC |
| Breast Cancer | DAB2IP downregulation associated with aggressive tumor phenotypes. | UniProt, COSMIC |
| Lung Cancer | Methylation of DAB2IP promoter contributes to oncogenesis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 5.2 | Low |
| Liver | 3.8 | Low |
| Colon | 4.1 | Low |
| Breast | 6.0 | Medium |
| Lung | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC3 (prostate cancer) | 2.1 | Low expression |
| HepG2 (liver cancer) | 3.5 | Low expression |
| MCF7 (breast cancer) | 5.8 | Medium expression |
| A549 (lung cancer) | 6.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function |
| c.567_568del (p.Glu189fs) | Frameshift | <1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing RasGAP activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Ras GTPase activator activity | • protein binding |
| • signal transduction | • negative regulation of cell proliferation |
| • apoptotic process | • cell migration |
Pathways
• RAS signaling pathway
• MAPK signaling pathway
• apoptosis
• TNF signaling pathway
Protein Summary
DAB2IP is a 1167-amino acid protein containing a RasGAP domain, a PH domain, and a C2 domain. It acts as a GTPase-activating protein for RAS, thereby inhibiting RAS-mediated signaling. It also interacts with ASK1 to modulate stress-induced apoptosis. The protein is predominantly cytoplasmic and is involved in tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAB2IP Knockout HEK293 Cell Line | EDJ-KQ1489 | Human | 153090 | 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 |
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