SORBS2
Sorbin and SH3 domain containing 2
Gene Information Card
| Symbol | SORBS2 |
|---|---|
| Full Name | Sorbin and SH3 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 8470 ncbi.nlm.nih.gov/gene/8470 |
| Ensembl ID | ENSG00000154556 |
| UniProt ID | O94875 |
| OMIM ID | 616349 |
| HGNC ID | 16897 |
| Aliases | ArgBP2, PRO0789, SH3D5, SORB2 |
Description
SORBS2 (Sorbin and SH3 domain containing 2) encodes a member of the sorbin family of adaptor proteins. The protein contains three SH3 domains and a sorbin homology domain, and functions in cell adhesion, cytoskeletal organization, and signal transduction. It is involved in the regulation of actin dynamics and has been implicated in cancer progression and cardiac development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SORBS2 overexpression may promote tumor cell migration and invasion via cytoskeletal remodeling | PMID: 23542344 |
| Colorectal cancer | Loss of SORBS2 expression correlates with poor prognosis and metastasis | PMID: 25720467 |
| Dilated cardiomyopathy | SORBS2 mutations disrupt cardiac Z-disc integrity and contractile function | PMID: 24879466 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Brain | 6.1 | Low |
| Breast | 4.2 | Low |
| Colon | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.0 | Moderate expression |
| HCT116 (colorectal cancer) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with dilated cardiomyopathy |
| c.567G>A (p.Glu189Lys) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function, potentially contributing to cardiomyopathy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SORBS2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SORBS2.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • SH3 domain binding |
| • cell adhesion | • cytoskeleton organization |
| • signal transduction |
Pathways
• Focal adhesion
• Actin cytoskeleton regulation
• ErbB signaling pathway
Protein Summary
SORBS2 is a 110 kDa adaptor protein containing three SH3 domains and a sorbin homology domain. It localizes to focal adhesions and the Z-disc of cardiac muscle, where it interacts with actin and signaling molecules to regulate cell shape, migration, and contractility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SORBS2 Knockout HEK293 Cell Line | EDJ-KQ6248 | Human | 8470 | Details Get a Quote |
| SORBS2 Knockout HeLa Cell Line | EDJ-KQ30108 | Human | 8470 | Details Get a Quote |
| SORBS2 Knockout A-549 Cell Line | EDJ-KQ63400 | Human | 8470 | Details Get a Quote |
| SORBS2 Knockout HCT 116 Cell Line | EDJ-KQ71867 | Human | 8470 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
