GAREM1
GRB2 Associated Regulator of MAPK1 Subtype 1
Gene Information Card
| Symbol | GAREM1 |
|---|---|
| Full Name | GRB2 Associated Regulator of MAPK1 Subtype 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 64762 ncbi.nlm.nih.gov/gene/64762 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q5T7M4 |
| OMIM ID | 615635 |
| HGNC ID | 28900 |
| Aliases | C18orf11, FAM59A, GAREM |
Description
GAREM1 (GRB2 Associated Regulator of MAPK1 Subtype 1) is a protein-coding gene located on chromosome 18q12.1. It encodes a scaffold protein that modulates the MAPK/ERK signaling pathway by interacting with GRB2 and regulating the activation of MAPK1 (ERK2). GAREM1 is involved in cell proliferation, differentiation, and survival. Alternative splicing produces multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of GAREM1 enhances ERK signaling, promoting cell proliferation and tumor growth. | COSMIC, PubMed |
| Colorectal cancer | GAREM1 mutations and altered expression contribute to MAPK pathway dysregulation. | COSMIC, PubMed |
| Gastric cancer | Upregulation of GAREM1 correlates with poor prognosis and increased metastatic potential. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Breast | 8.1 | Medium |
| Colon | 6.3 | Medium |
| Kidney | 4.7 | Low |
| Liver | 3.9 | Low |
| Lung | 7.5 | Medium |
| Ovary | 6.8 | Medium |
| Prostate | 5.9 | Low |
| Testis | 12.4 | High |
| Thyroid | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.3 | Moderate expression |
| HCT116 (colorectal cancer) | 7.8 | Moderate expression |
| A549 (lung cancer) | 6.5 | Moderate expression |
| HEK293 (embryonic kidney) | 4.2 | Low expression |
| K562 (leukemia) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift insertion | <0.1% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567_568insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
| • MAPK cascade (GO:0000165) | • cell differentiation (GO:0030154) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5673001)
• Signaling by ERBB2 (Reactome: R-HSA-8863795)
• GRB2 events in ERBB2 signaling (Reactome: R-HSA-8866907)
Protein Summary
GAREM1 is a scaffold protein that contains a proline-rich region and a coiled-coil domain. It binds to GRB2 via its proline-rich motifs and facilitates the activation of MAPK1 (ERK2) in response to growth factor stimulation. The protein is predominantly cytoplasmic and is involved in regulating cell proliferation and differentiation. Isoforms generated by alternative splicing may have distinct functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAREM1 Knockout HEK293 Cell Line | EDJ-KQ13561 | Human | 64762 | Details Get a Quote |
| GAREM1 Knockout A-549 Cell Line | EDJ-KQ43193 | Human | 64762 | Details Get a Quote |
| GAREM1 Knockout HCT 116 Cell Line | EDJ-KQ43194 | Human | 64762 | Details Get a Quote |
| GAREM1 Knockout HeLa Cell Line | EDJ-KQ43195 | Human | 64762 | Details Get a Quote |
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