RASL12: RAS Like Family 12
A small GTPase of the RAS superfamily with emerging roles in cellular signaling and cancer
Gene Information Card
| Symbol | RASL12 |
|---|---|
| Full Name | RAS Like Family 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 51285 ncbi.nlm.nih.gov/gene/51285 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NYL9 |
| OMIM ID | 614523 |
| HGNC ID | 30229 |
| Aliases | RIS, RALGTP, RALGTPase |
Description
RASL12 (RAS Like Family 12) is a protein-coding gene that encodes a member of the RAS superfamily of small GTPases. The protein functions as a molecular switch in signal transduction pathways, regulating cell proliferation, differentiation, and survival. RASL12 is implicated in several cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered RASL12 expression may contribute to aberrant RAS signaling and tumorigenesis | COSMIC, literature |
| Breast Cancer | RASL12 overexpression observed in some subtypes; potential oncogenic role | COSMIC, literature |
| Lung Cancer | Mutations and expression changes reported in non-small cell lung cancer | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.3 | Low |
| Adrenal Gland | 6.1 | Low |
| Prostate | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney; moderate expression |
| MCF7 | 8.5 | Breast cancer cell line |
| A549 | 6.2 | Lung cancer cell line |
| HCT116 | 5.0 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.218A>G (p.Gln73Arg) | Missense | <0.1% | Potential gain-of-function; observed in colorectal cancer |
| c.344C>T (p.Thr115Met) | Missense | <0.1% | Unknown significance; reported in lung cancer |
| c.112G>A (p.Gly38Ser) | Missense | <0.1% | Likely benign; population frequency low |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RASL12.
Gain of Function (GOF)
p.Gln73Arg is a putative gain-of-function mutation based on homology to other RAS family members.
Dominant Negative (DN)
No dominant-negative mutations described for RASL12.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • small GTPase mediated signal transduction (GO:0007264) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) |
Pathways
• RAS signaling pathway (Reactome: R-HSA-5673001)
• MAPK signaling cascade (Reactome: R-HSA-5687128)
Protein Summary
RASL12 is a 219-amino-acid protein belonging to the RAS-like family of small GTPases. It contains conserved G-box motifs for GTP binding and hydrolysis. The protein cycles between an active GTP-bound state and an inactive GDP-bound state, regulating downstream effectors involved in cell growth and differentiation. Structural studies suggest similarity to other RAS proteins, with a C-terminal hypervariable region for membrane localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASL12 Knockout HEK293 Cell Line | EDJ-KQ10312 | Human | 51285 | Details Get a Quote |
| RASL12 Knockout HeLa Cell Line | EDJ-KQ56270 | Human | 51285 | Details Get a Quote |
| RASL12 Knockout A-549 Cell Line | EDJ-KQ64759 | Human | 51285 | Details Get a Quote |
| RASL12 Knockout HCT 116 Cell Line | EDJ-KQ73206 | Human | 51285 | Details Get a Quote |
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