RASSF9
Ras association domain family member 9: a potential tumor suppressor and regulator of cell growth
Gene Information Card
| Symbol | RASSF9 |
|---|---|
| Full Name | Ras association domain family member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 9182 ncbi.nlm.nih.gov/gene/9182 |
| Ensembl ID | ENSG00000198774 |
| UniProt ID | Q9NS23 |
| OMIM ID | 609442 |
| HGNC ID | 30295 |
| Aliases | P-CIP1, RASSF9A, RASSF9B |
Description
RASSF9 (Ras association domain family member 9) is a protein-coding gene located on chromosome 12q21.31. It belongs to the Ras association domain family and encodes a protein that contains a Ras-association (RA) domain. RASSF9 is involved in regulating cell growth, apoptosis, and cell cycle progression. It is considered a potential tumor suppressor, with evidence suggesting its downregulation in various cancers. The protein interacts with Ras family members and may modulate signaling pathways such as the Hippo pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Downregulation of RASSF9 may promote cell proliferation and inhibit apoptosis, contributing to tumorigenesis. | PMID: 23455478 |
| Lung cancer | Reduced RASSF9 expression is associated with poor prognosis and increased metastatic potential. | PMID: 25656847 |
| Colorectal cancer | Loss of RASSF9 expression correlates with advanced tumor stage and lymph node metastasis. | PMID: 27158373 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.2 | Low expression |
| A549 (lung cancer) | 2.1 | Low expression |
| HCT116 (colorectal cancer) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 7.5 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256C>T (p.Arg86Trp) | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.421G>A (p.Glu141Lys) | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.538_539insA (p.Thr180Asnfs*2) | Frameshift | <0.1% in COSMIC | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.538_539insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RASSF9.
Dominant Negative (DN)
No dominant-negative mutations have been described for RASSF9.
View complete mutation data:
Gene Ontology (GO)
| • Ras association domain binding | • protein binding |
| • apoptotic process | • negative regulation of cell proliferation |
| • cell cycle arrest |
Pathways
• Hippo signaling pathway
• Ras signaling pathway
Protein Summary
The RASSF9 protein contains a Ras-association (RA) domain and is involved in mediating Ras-dependent signaling. It is thought to act as a scaffold protein that modulates the Hippo pathway, thereby regulating cell proliferation and apoptosis. RASSF9 is predominantly localized in the cytoplasm and may translocate to the nucleus upon specific stimuli. Its downregulation in multiple cancer types suggests a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASSF9 Knockout HEK293 Cell Line | EDJ-KQ6487 | Human | 9182 | Details Get a Quote |
| RASSF9 Knockout HeLa Cell Line | EDJ-KQ29262 | Human | 9182 | Details Get a Quote |
| RASSF9 Knockout A-549 Cell Line | EDJ-KQ30610 | Human | 9182 | Details Get a Quote |
| RASSF9 Knockout HCT 116 Cell Line | EDJ-KQ72045 | Human | 9182 | Details Get a Quote |
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