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.

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 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
Displaying Records 1 To 4 Of 4 Records
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