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.

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 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
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