PARVB
Parvin Beta
Gene Information Card
| Symbol | PARVB |
|---|---|
| Full Name | Parvin Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 29780 ncbi.nlm.nih.gov/gene/29780 |
| Ensembl ID | ENSG00000188677 |
| UniProt ID | Q9HBI5 |
| OMIM ID | 608047 |
| HGNC ID | 15952 |
| Aliases | CGI-56, parvin-2, FLJ12287 |
Description
PARVB (parvin beta) is a protein-coding gene located on chromosome 22q13.31. It encodes a member of the parvin family of actin-binding proteins, which are components of focal adhesions and link integrins to the actin cytoskeleton. Parvin beta plays a role in cell adhesion, migration, and survival, and is involved in integrin signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PARVB expression may affect cell adhesion and migration, contributing to tumor progression. | NCBI Gene, COSMIC |
| Colorectal cancer | PARVB mutations and expression changes have been observed in colorectal tumors. | COSMIC |
| Prostate cancer | PARVB is implicated in prostate cancer through integrin signaling dysregulation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Kidney | 8.1 | Medium |
| Liver | 6.3 | Low |
| Lung | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| MCF7 | 7.2 | Moderate expression in breast cancer cells |
| A549 | 6.1 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <1% | Unknown functional effect |
| c.567delA | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A | Nonsense | <0.1% | Premature stop, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in PARVB are predicted to cause loss of function, potentially disrupting actin binding and focal adhesion dynamics.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PARVB.
Dominant Negative (DN)
No dominant-negative mutations have been described for PARVB.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway
• Focal adhesion pathway
• Actin cytoskeleton regulation
Protein Summary
Parvin beta is a 372-amino acid actin-binding protein that localizes to focal adhesions. It forms a complex with integrin-linked kinase (ILK) and parvin alpha, linking integrins to the actin cytoskeleton. Parvin beta regulates cell spreading, migration, and survival, and its dysregulation is associated with cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PARVB Knockout HEK293 Cell Line | EDJ-KQ9046 | Human | 29780 | Details Get a Quote |
| PARVB Knockout A-549 Cell Line | EDJ-KQ35496 | Human | 29780 | Details Get a Quote |
| PARVB Knockout HCT 116 Cell Line | EDJ-KQ35497 | Human | 29780 | Details Get a Quote |
| PARVB Knockout HeLa Cell Line | EDJ-KQ35498 | Human | 29780 | Details Get a Quote |
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