ZYX (Zyxin)
A focal adhesion protein involved in actin cytoskeleton organization and cell migration, with implications in cancer and cardiovascular disease.
Gene Information Card
| Symbol | ZYX |
|---|---|
| Full Name | Zyxin |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 7791 ncbi.nlm.nih.gov/gene/7791 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q15942 |
| OMIM ID | 602002 |
| HGNC ID | 13200 |
| Aliases | ESP-2, ZYX-1 |
Description
ZYX (zyxin) is a protein-coding gene located on chromosome 7q34. The encoded protein is a zinc-binding phosphoprotein that localizes to focal adhesions and the actin cytoskeleton. Zyxin functions as a scaffold protein, regulating actin polymerization, cell adhesion, and migration. It shuttles between the cytoplasm and nucleus to modulate gene expression in response to mechanical stress. ZYX is implicated in cancer progression, cardiovascular remodeling, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Zyxin overexpression or mislocalization alters focal adhesion dynamics, promoting cell migration and invasion. | COSMIC; NCBI Gene |
| Cardiovascular disease | Zyxin regulates endothelial cell adhesion and vascular remodeling under shear stress. | UniProt; OMIM |
| Developmental disorders | Zyxin mutations may disrupt actin cytoskeleton organization during embryogenesis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | Medium |
| Skeletal muscle | 22.3 | Medium |
| Lung | 18.7 | Medium |
| Kidney | 15.2 | Low |
| Liver | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| A549 | 25.6 | Lung cancer cell line |
| MCF7 | 20.3 | Breast cancer cell line |
| HEK 293 | 18.9 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted benign |
| c.200_201insA | Frameshift | <0.01% | Loss of function |
| c.350G>A (p.Arg117His) | Missense | <0.01% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of zyxin function, impairing focal adhesion dynamics.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ZYX.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ZYX.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Focal adhesion (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
Zyxin is a 572-amino acid protein with a molecular weight of approximately 61 kDa. It contains three LIM zinc-binding domains at the C-terminus, which mediate protein-protein interactions, and a proline-rich N-terminus that binds to actin and other focal adhesion components. Zyxin shuttles between focal adhesions and the nucleus, where it can influence transcription factors such as SRF. It is essential for mechanotransduction, cell motility, and wound healing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZYX Knockout HEK293 Cell Line | EDJ-KQ6125 | Human | 7791 | Details Get a Quote |
| ZYX Knockout A-549 Cell Line | EDJ-KQ29888 | Human | 7791 | Details Get a Quote |
| ZYX Knockout HCT 116 Cell Line | EDJ-KQ29889 | Human | 7791 | Details Get a Quote |
| ZYX Knockout HeLa Cell Line | EDJ-KQ29890 | Human | 7791 | Details Get a Quote |