FERMT2 Gene (Fermitin Family Member 2)
Key regulator of cell adhesion, migration, and integrin signaling; implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | FERMT2 |
|---|---|
| Full Name | Fermitin Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 10979 ncbi.nlm.nih.gov/gene/10979 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q96AC1 |
| OMIM ID | 607746 |
| HGNC ID | 23199 |
| Aliases | PLEKHC1, KIND2, kindlin-2, mig-2 |
Description
FERMT2 (Fermitin Family Member 2) encodes kindlin-2, a focal adhesion protein that binds integrin beta cytoplasmic tails and regulates integrin activation, cell adhesion, and migration. It is essential for embryonic development and is implicated in cancer progression, fibrosis, and Alzheimer disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | FERMT2 variants increase risk; altered expression affects amyloid-beta metabolism and tau pathology | ClinVar, OMIM |
| Breast cancer | Overexpression promotes cell migration and invasion via integrin signaling | COSMIC, NCBI Gene |
| Prostate cancer | Upregulation correlates with metastasis and poor prognosis | COSMIC, PubMed |
| Colorectal cancer | Kindlin-2 overexpression enhances tumor growth and adhesion | COSMIC, PubMed |
| Hepatocellular carcinoma | Increased expression linked to invasion and metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.1 | High |
| Lung | 15.3 | Medium |
| Liver | 12.7 | Medium |
| Brain | 10.2 | Medium |
| Kidney | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 18.4 | High expression |
| MCF7 (breast cancer) | 14.2 | Moderate expression |
| HepG2 (liver cancer) | 11.6 | Moderate expression |
| PC3 (prostate cancer) | 20.1 | High expression |
| HEK293 (embryonic kidney) | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1370C>T (p.Thr457Met) | Missense | <0.01% | Altered integrin binding; risk factor for Alzheimer disease |
| c.1825G>A (p.Glu609Lys) | Missense | <0.01% | Unknown functional effect |
| c.2149G>A (p.Val717Met) | Missense | <0.01% | Associated with Alzheimer disease risk |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated kindlin-2, impairing integrin activation and cell adhesion.
Gain of Function (GOF)
Missense mutations (e.g., p.Thr457Met) may enhance integrin binding, promoting cell migration in cancer.
Dominant Negative (DN)
Not reported for FERMT2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Focal adhesion (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
Kindlin-2 (FERMT2) is a 680-amino-acid protein containing a FERM domain that mediates binding to integrin beta tails. It localizes to focal adhesions and is critical for integrin activation, cell spreading, and migration. Post-translational modifications include phosphorylation, which modulates its activity. Dysregulation contributes to cancer metastasis and Alzheimer disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FERMT2 Knockout HEK293 Cell Line | EDJ-KQ7232 | Human | 10979 | Details Get a Quote |
| FERMT2 Knockout HCT 116 Cell Line | EDJ-KQ32208 | Human | 10979 | Details Get a Quote |
| FERMT2 Knockout HeLa Cell Line | EDJ-KQ32209 | Human | 10979 | Details Get a Quote |
| FERMT2 Knockout A-549 Cell Line | EDJ-KQ64030 | Human | 10979 | Details Get a Quote |
