AMER2: APC Membrane Recruitment Protein 2
A tumor suppressor candidate involved in Wnt signaling and cell adhesion
Gene Information Card
| Symbol | AMER2 |
|---|---|
| Full Name | APC Membrane Recruitment Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 219587 ncbi.nlm.nih.gov/gene/219587 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 617484 |
| HGNC ID | 26466 |
| Aliases | KIAA1161, FLJ10305 |
Description
AMER2 (APC Membrane Recruitment Protein 2) is a protein-coding gene that encodes a member of the Amer family of proteins. The protein contains a membrane-binding domain and interacts with the adenomatous polyposis coli (APC) tumor suppressor, facilitating its recruitment to the plasma membrane. AMER2 is involved in negative regulation of the Wnt signaling pathway and may play a role in cell adhesion and migration. It is expressed in various tissues and is implicated in cancer development through loss of function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of AMER2 function may impair APC membrane localization, leading to aberrant Wnt/β-catenin signaling and tumorigenesis. | COSMIC; literature review |
| Breast cancer | Reduced AMER2 expression correlates with poor prognosis; potential tumor suppressor role. | COSMIC; literature review |
| Lung cancer | Somatic mutations and copy number loss observed in lung adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Pancreas | 4.5 | Not detected |
| Spleen | 7.8 | Low |
| Testis | 20.4 | High |
| Thyroid | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 9.2 | Moderate expression |
| A549 | 6.8 | Low expression |
| MCF7 | 5.1 | Low expression |
| HCT116 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <0.1% | Loss of function; truncation |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Unknown significance |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | <0.1% | Loss of function |
| c.2035C>T (p.Arg679Trp) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg338*, p.Thr597Asnfs*12) are predicted to cause loss of function by truncating the protein, impairing APC membrane recruitment and Wnt signaling regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AMER2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for AMER2.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • cell adhesion |
| • plasma membrane | • protein binding |
| • negative regulation of canonical Wnt signaling pathway |
Pathways
• Wnt signaling pathway
• APC-mediated regulation of β-catenin
Protein Summary
The AMER2 protein is a 679-amino acid membrane-associated protein that contains a conserved N-terminal membrane-binding domain and a C-terminal region that interacts with the APC tumor suppressor. It localizes to the plasma membrane and facilitates the recruitment of APC, thereby promoting the degradation of β-catenin and suppressing Wnt signaling. AMER2 is expressed in multiple tissues, with highest levels in testis and brain. Loss of AMER2 function through truncating mutations or reduced expression is associated with colorectal, breast, and lung cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMER2 Knockout HEK293 Cell Line | EDJ-KQ8178 | Human | 219287 | Details Get a Quote |
| AMER2 Knockout HeLa Cell Line | EDJ-KQ59062 | Human | 219287 | Details Get a Quote |
| AMER2 Knockout A-549 Cell Line | EDJ-KQ67538 | Human | 219287 | Details Get a Quote |
| AMER2 Knockout HCT 116 Cell Line | EDJ-KQ75932 | Human | 219287 | Details Get a Quote |
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