TIAM2: T-Cell Lymphoma Invasion and Metastasis 2
A RAC1 Guanine Nucleotide Exchange Factor Involved in Neuronal Development and Cancer
Gene Information Card
| Symbol | TIAM2 |
|---|---|
| Full Name | T-cell lymphoma invasion and metastasis 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.2 |
| NCBI Gene ID | 26230 ncbi.nlm.nih.gov/gene/26230 |
| Ensembl ID | ENSG00000146426 |
| UniProt ID | Q8IVF5 |
| OMIM ID | 604709 |
| HGNC ID | 11806 |
| Aliases | STEF, TIAM2A, TIAM2B |
Description
TIAM2 (T-cell lymphoma invasion and metastasis 2) encodes a guanine nucleotide exchange factor (GEF) for the Rho GTPase RAC1. It plays a critical role in cytoskeletal reorganization, cell migration, and neurite outgrowth. TIAM2 is highly expressed in the brain and is implicated in neuronal development, synaptic plasticity, and cancer metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | TIAM2 overexpression promotes RAC1 activation, enhancing cell migration and invasion. | PMID: 20593214 |
| Breast Cancer | TIAM2 upregulation correlates with metastatic potential via RAC1-mediated cytoskeletal changes. | PMID: 21947069 |
| Neurodevelopmental Disorders | TIAM2 variants may disrupt RAC1 signaling, affecting neuronal migration and dendritic spine formation. | PMID: 25664889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 4.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
| HeLa | 2.1 | Cervical carcinoma |
| MCF7 | 1.5 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Altered GEF activity |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.01% | Reduced RAC1 binding |
| c.2101G>A (p.Val701Met) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
p.Glu189del reduces RAC1 binding and GEF activity.
Gain of Function (GOF)
p.Arg412Trp may enhance RAC1 activation in vitro.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAC1 GTPase cycle
• Rho GTPase signaling
• Axon guidance
Protein Summary
The TIAM2 protein (UniProt Q8IVF5) is a 1591-amino acid guanine nucleotide exchange factor specific for RAC1. It contains a PH domain, a PDZ domain, and a DH (Dbl homology) domain essential for catalytic activity. TIAM2 localizes to the plasma membrane and regulates actin dynamics, cell polarity, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIAM2 Knockout HEK293 Cell Line | EDJ-KQ8470 | Human | 26230 | Details Get a Quote |
| TIAM2 Knockout HCT 116 Cell Line | EDJ-KQ33266 | Human | 26230 | Details Get a Quote |
| TIAM2 Knockout A-549 Cell Line | EDJ-KQ34587 | Human | 26230 | Details Get a Quote |
| TIAM2 Knockout HeLa Cell Line | EDJ-KQ34589 | Human | 26230 | Details Get a Quote |
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