TLN2 (Talin 2) Gene
A key cytoskeletal protein involved in cell adhesion, migration, and signaling, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | TLN2 |
|---|---|
| Full Name | Talin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 83660 ncbi.nlm.nih.gov/gene/83660 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q9Y4G6 |
| OMIM ID | 607349 |
| HGNC ID | 11845 |
| Aliases | KIAA0320, TALIN2 |
Description
TLN2 encodes talin 2, a high-molecular-weight cytoskeletal protein that links integrins to the actin cytoskeleton. It plays a critical role in cell adhesion, migration, and mechanotransduction. Talin 2 is expressed in multiple tissues and is essential for focal adhesion assembly and integrin activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TLN2 expression and mutations may disrupt cell adhesion and promote metastasis. | COSMIC; literature |
| Developmental disorders | Rare variants in TLN2 have been associated with intellectual disability and autism spectrum disorder. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.1 | High |
| Brain | 10.3 | Medium |
| Lung | 6.8 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | Moderate expression |
| HeLa (cervical adenocarcinoma) | 12.8 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 9.5 | Low expression |
| HEK293 (embryonic kidney) | 18.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Potentially damaging; reported in ClinVar |
| c.5678_5680del (p.Glu1893del) | In-frame deletion | <0.01% | May affect talin rod domain function |
| c.7890G>A (p.Trp2630*) | Nonsense | <0.01% | Loss-of-function; associated with developmental phenotypes |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated talin 2 protein, impairing integrin activation and cell adhesion.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance integrin binding or focal adhesion turnover.
Dominant Negative (DN)
Possible for certain missense or deletion mutations that disrupt talin 2 dimerization or integrin binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Focal adhesion (KEGG: hsa04510)
• ECM-receptor interaction (KEGG: hsa04512)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
Talin 2 is a 2542-amino-acid protein that contains an N-terminal FERM domain for integrin binding and a large C-terminal rod domain with multiple actin-binding sites. It functions as a mechanosensitive linker between integrins and the actin cytoskeleton, regulating cell adhesion, spreading, and migration. Talin 2 is essential for focal adhesion dynamics and is implicated in cancer progression and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLN2 Knockout HEK293 Cell Line | EDJ-KQ1328 | Human | 83660 | Details Get a Quote |
| TLN2 Knockout HeLa Cell Line | EDJ-KQ19427 | Human | 83660 | Details Get a Quote |
| TLN2 Knockout A-549 Cell Line | EDJ-KQ20768 | Human | 83660 | Details Get a Quote |
| TLN2 Knockout HCT 116 Cell Line | EDJ-KQ20769 | Human | 83660 | Details Get a Quote |
