ASB2: Ankyrin Repeat and SOCS Box Protein 2
A key regulator of cytoskeletal dynamics and cardiac development
Gene Information Card
| Symbol | ASB2 |
|---|---|
| Full Name | Ankyrin Repeat and SOCS Box Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 51676 ncbi.nlm.nih.gov/gene/51676 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q96Q27 |
| OMIM ID | 605759 |
| HGNC ID | 17185 |
| Aliases | ASB-2, MGC40499 |
Description
ASB2 (ankyrin repeat and SOCS box containing 2) encodes a member of the ankyrin repeat and SOCS box (ASB) family of proteins. The encoded protein functions as a substrate recognition subunit of an E3 ubiquitin ligase complex, targeting proteins such as filamin A and filamin B for proteasomal degradation. ASB2 plays a critical role in cytoskeletal remodeling, particularly during cardiac development and differentiation of hematopoietic cells. It is also implicated in the regulation of actin dynamics and cell adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | ASB2 expression is induced by retinoic acid and promotes degradation of filamin A, contributing to differentiation of leukemic cells. | PMID: 15616553 |
| Cardiomyopathy | ASB2 knockout mice exhibit cardiac defects, including reduced contractility and disorganized sarcomeres, due to impaired filamin degradation. | PMID: 25281747 |
| Cancer (general) | ASB2 acts as a tumor suppressor in some contexts by regulating cytoskeletal stability and cell migration. | PMID: 21558396 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Bone Marrow | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression; induced by retinoic acid |
| HL-60 (promyelocytic) | 10.5 | Differentiation-associated upregulation |
| HeLa (cervical) | 2.1 | Low baseline expression |
| HEK293 (embryonic kidney) | 1.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; predicted to truncate protein |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Unknown; likely benign |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg339*, c.1234_1235insA) are predicted to cause loss of E3 ubiquitin ligase activity, impairing filamin degradation and cytoskeletal remodeling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ASB2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ASB2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Proteasome (KEGG: hsa03050)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
ASB2 is a 587-amino acid protein containing N-terminal ankyrin repeats and a C-terminal SOCS box. It serves as the substrate recognition component of an E3 ubiquitin ligase complex (Elongin B/C-Cul5-Rbx1). Through its ankyrin repeats, ASB2 binds filamin A and filamin B, targeting them for ubiquitination and proteasomal degradation. This activity is essential for actin cytoskeleton reorganization during cardiac myocyte maturation and hematopoietic differentiation. The protein is predominantly cytoplasmic and is highly expressed in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASB2 Knockout HEK293 Cell Line | EDJ-KQ11186 | Human | 51676 | Details Get a Quote |
| ASB2 Knockout HeLa Cell Line | EDJ-KQ56346 | Human | 51676 | Details Get a Quote |
| ASB2 Knockout A-549 Cell Line | EDJ-KQ64835 | Human | 51676 | Details Get a Quote |
| ASB2 Knockout HCT 116 Cell Line | EDJ-KQ73280 | Human | 51676 | Details Get a Quote |
