LIMS2: LIM Zinc Finger Domain Containing 2
A key scaffold protein in integrin-mediated signaling and cell adhesion
Gene Information Card
| Symbol | LIMS2 |
|---|---|
| Full Name | LIM zinc finger domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 55679 ncbi.nlm.nih.gov/gene/55679 |
| Ensembl ID | ENSG00000115963 |
| UniProt ID | Q7Z4I7 |
| OMIM ID | 607908 |
| HGNC ID | 16084 |
| Aliases | PINCH2, LIMS2L, MGC2745 |
Description
LIMS2 (LIM zinc finger domain containing 2) encodes a member of the LIM domain protein family, specifically PINCH2, which functions as an adaptor protein in integrin-mediated signaling. It localizes to focal adhesions and interacts with integrin-linked kinase (ILK) and parvin, playing a critical role in cell adhesion, migration, and cytoskeletal organization. Mutations in LIMS2 are associated with autosomal recessive nephropathy and muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephropathy with muscular dystrophy | Loss-of-function mutations disrupt ILK-PINCH-parvin complex, impairing podocyte and muscle cell adhesion | ClinVar, OMIM #607908 |
| Limb-girdle muscular dystrophy type 2W | Homozygous missense mutations in LIMS2 reduce protein stability and focal adhesion assembly | ClinVar, OMIM #607908 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Skeletal muscle | 18.3 | Medium |
| Heart | 9.8 | Low |
| Liver | 4.2 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| A549 | 8.7 | Lung carcinoma |
| HeLa | 11.4 | Cervical adenocarcinoma |
| HepG2 | 5.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | Rare | Reduced protein stability; associated with nephropathy and muscular dystrophy |
| c.349G>A (p.Gly117Arg) | Missense | Rare | Impaired ILK binding; limb-girdle muscular dystrophy |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; severe early-onset disease |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish LIMS2 protein function, disrupting focal adhesion signaling.
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)
| • focal adhesion (GO:0005925) | • integrin binding (GO:0005178) |
| • identical protein binding (GO:0042802) | • lamellipodium (GO:0030027) |
| • cell adhesion (GO:0007155) |
Pathways
• Integrin signaling pathway (Reactome R-HSA-354192)
• Focal adhesion pathway (KEGG hsa04510)
• ILK signaling (Reactome R-HSA-446728)
Protein Summary
LIMS2 encodes PINCH2, a 330-amino acid protein containing five LIM zinc finger domains. It acts as a scaffold at focal adhesions, binding directly to integrin-linked kinase (ILK) and indirectly to parvin and other cytoskeletal components. PINCH2 is essential for maintaining cell-matrix adhesion in kidney podocytes and skeletal muscle fibers. Loss of function leads to detachment-induced apoptosis and tissue degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMS2 Knockout HEK293 Cell Line | EDJ-KQ11953 | Human | 55679 | Details Get a Quote |
| LIMS2 Knockout A-549 Cell Line | EDJ-KQ40481 | Human | 55679 | Details Get a Quote |
| LIMS2 Knockout HCT 116 Cell Line | EDJ-KQ40482 | Human | 55679 | Details Get a Quote |
| LIMS2 Knockout HeLa Cell Line | EDJ-KQ40483 | Human | 55679 | Details Get a Quote |
