SH3BP4
SH3 Domain Binding Protein 4
Gene Information Card
| Symbol | SH3BP4 |
|---|---|
| Full Name | SH3 domain binding protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 23677 ncbi.nlm.nih.gov/gene/23677 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9P0V3 |
| OMIM ID | 605611 |
| HGNC ID | 10826 |
| Aliases | BAP-135, TTP, CGI-97 |
Description
SH3BP4 (SH3 domain binding protein 4) encodes a protein that contains an SH3 domain and is involved in clathrin-mediated endocytosis, particularly in the regulation of transferrin receptor internalization. The protein interacts with the SH3 domain of several signaling molecules and may play a role in cell proliferation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect endocytosis and signaling pathways, contributing to tumorigenesis. | NCBI Gene, COSMIC |
| Colorectal cancer | Downregulation observed; potential tumor suppressor role. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK 293 | 9.1 | Embryonic kidney cells |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567delA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of endocytic regulatory function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin-mediated endocytosis | • SH3 domain binding |
| • protein transport | • cytoplasm |
| • endosome |
Pathways
• Clathrin-mediated endocytosis
• Transferrin receptor recycling
Protein Summary
SH3BP4 is a 963-amino acid protein that contains an N-terminal SH3 domain and multiple proline-rich regions. It localizes to clathrin-coated pits and vesicles, where it regulates the internalization of transferrin receptor and other cargo. The protein may also interact with signaling molecules such as BAP-135 and influence cell growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3BP4 Knockout HEK293 Cell Line | EDJ-KQ267 | Human | 23677 | Details Get a Quote |
| SH3BP4 Knockout A-549 Cell Line | EDJ-KQ45921 | Human | 23677 | Details Get a Quote |
| SH3BP4 Knockout HCT 116 Cell Line | EDJ-KQ45922 | Human | 23677 | Details Get a Quote |
| SH3BP4 Knockout HeLa Cell Line | EDJ-KQ45923 | Human | 23677 | Details Get a Quote |
