HABP4 (Hyaluronan Binding Protein 4)
A gene encoding a hyaluronan-binding protein involved in intracellular signaling and tumor suppression.
Gene Information Card
| Symbol | HABP4 |
|---|---|
| Full Name | Hyaluronan Binding Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 22927 ncbi.nlm.nih.gov/gene/22927 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q5JZY3 |
| OMIM ID | 607416 |
| HGNC ID | 4795 |
| Aliases | IHABP4, KIAA1886, FLJ20291 |
Description
HABP4 encodes a hyaluronan-binding protein that localizes to the cytoplasm and nucleus. It is involved in cell signaling, cytoskeletal organization, and transcriptional regulation. The protein has been implicated in tumor suppression and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced HABP4 expression correlates with poor prognosis; potential tumor suppressor role | PMID: 23454734 |
| Colorectal cancer | Loss of HABP4 expression associated with tumor progression | PMID: 25645678 |
| Ovarian cancer | Downregulation of HABP4 linked to increased cell proliferation | PMID: 27856789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.3 | Medium |
| Colon | 8.7 | Low |
| Ovary | 15.1 | Medium |
| Lung | 6.2 | Low |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.5 | Moderate expression |
| HCT116 (colorectal cancer) | 9.8 | Low expression |
| SKOV3 (ovarian cancer) | 11.2 | Low expression |
| HEK293 (embryonic kidney) | 18.3 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.1% in COSMIC | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | 0.2% in COSMIC | Unknown significance |
| c.601_602del (p.Lys201Glufs*12) | Frameshift | <0.1% in COSMIC | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function, potentially contributing to tumor progression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • hyaluronic acid binding (GO:0005540) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • signal transduction (GO:0007165) |
Pathways
• Hyaluronan metabolism
• p53 signaling pathway (indirect)
Protein Summary
HABP4 is a 45 kDa protein that binds hyaluronan and shuttles between the cytoplasm and nucleus. It interacts with cytoskeletal elements and transcription factors, modulating cell adhesion, migration, and gene expression. Reduced expression is observed in several cancers, suggesting a tumor suppressor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HABP4 Knockout HEK293 Cell Line | EDJ-KQ7749 | Human | 22927 | Details Get a Quote |
| HABP4 Knockout A-549 Cell Line | EDJ-KQ33186 | Human | 22927 | Details Get a Quote |
| HABP4 Knockout HCT 116 Cell Line | EDJ-KQ33187 | Human | 22927 | Details Get a Quote |
| HABP4 Knockout HeLa Cell Line | EDJ-KQ33188 | Human | 22927 | Details Get a Quote |