ACTBL2 Gene - Beta-Actin-Like Protein 2
A cytoskeletal actin gene with potential roles in cell motility and cancer progression
Gene Information Card
| Symbol | ACTBL2 |
|---|---|
| Full Name | Actin, Beta-Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 345651 ncbi.nlm.nih.gov/gene/345651 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | Q562R1 |
| OMIM ID | 614835 |
| HGNC ID | 27958 |
| Aliases | ACTBL1, ACTBL3, beta-actin-like 2 |
Description
ACTBL2 (Actin, Beta-Like 2) is a protein-coding gene that encodes a member of the actin family of cytoskeletal proteins. Actins are highly conserved globular proteins that form microfilaments and are essential for cell structure, motility, and division. ACTBL2 is specifically expressed in certain tissues and has been implicated in cancer cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of ACTBL2 promotes cell migration and invasion via cytoskeletal remodeling | COSMIC; PMID: 25656892 |
| Breast Cancer | ACTBL2 upregulation correlates with poor prognosis and metastatic potential | COSMIC; PMID: 27323850 |
| Lung Cancer | ACTBL2 expression is elevated in non-small cell lung cancer tissues | COSMIC; PMID: 28723891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.8 | Lung cancer cell line |
| MCF7 | 9.4 | Breast cancer cell line |
| HCT116 | 14.1 | Colorectal cancer cell line |
| K562 | 7.6 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301G>A (p.Gly101Arg) | Missense | <0.01% | Unknown; observed in COSMIC database |
| c.512C>T (p.Pro171Leu) | Missense | <0.01% | Unknown; observed in COSMIC database |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ACTBL2.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in cell motility.
Dominant Negative (DN)
No dominant-negative mutations described for ACTBL2.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton | • actin filament |
| • cell motility | • protein binding |
| • ATP binding |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
ACTBL2 encodes a 375-amino acid protein (UniProt Q562R1) that belongs to the actin family. It shares high sequence similarity with beta-actin but exhibits distinct tissue expression patterns. The protein is involved in cytoskeletal organization, cell motility, and has been linked to cancer progression through enhanced migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTBL2 Knockout HEK293 Cell Line | EDJ-KQ12272 | Human | 345651 | Details Get a Quote |
| ACTBL2 Knockout HeLa Cell Line | EDJ-KQ59791 | Human | 345651 | Details Get a Quote |
| ACTBL2 Knockout A-549 Cell Line | EDJ-KQ68259 | Human | 345651 | Details Get a Quote |
| ACTBL2 Knockout HCT 116 Cell Line | EDJ-KQ76636 | Human | 345651 | Details Get a Quote |
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