AMER3 Gene - APC Membrane Recruitment Protein 3
Comprehensive genomic and functional overview of AMER3 (APC Membrane Recruitment Protein 3, also known as FAM123B)
Gene Information Card
| Symbol | AMER3 |
|---|---|
| Full Name | APC Membrane Recruitment Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 124944 ncbi.nlm.nih.gov/gene/124944 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q5T9S5 |
| OMIM ID | 615757 |
| HGNC ID | 26410 |
| Aliases | FAM123B, FLJ38663 |
Description
AMER3 (APC Membrane Recruitment Protein 3) is a protein-coding gene located on chromosome 2q24.3. It encodes a member of the APC membrane recruitment protein family, which functions in the Wnt signaling pathway by recruiting the adenomatous polyposis coli (APC) protein to the plasma membrane. AMER3 is involved in cell polarity, cytoskeletal organization, and transcriptional regulation. Alterations in AMER3 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of AMER3 disrupts APC membrane localization, impairing Wnt/β-catenin degradation and promoting oncogenic signaling. | COSMIC; PMID: 23542689 |
| Breast cancer | Reduced AMER3 expression correlates with poor prognosis; potential tumor suppressor role via Wnt pathway modulation. | COSMIC; PMID: 25691885 |
| Wilms tumor | Somatic mutations in AMER3 (FAM123B) identified in pediatric kidney tumors, suggesting role in nephrogenesis. | PMID: 22538726 |
| Intellectual disability | De novo missense variants in AMER3 reported in patients with neurodevelopmental delay. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Breast | 6.1 | Low |
| Brain | 4.7 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cell line; high AMER3 expression |
| HCT116 | 9.8 | Colorectal carcinoma; moderate expression |
| MCF7 | 5.4 | Breast cancer; low expression |
| SH-SY5Y | 4.1 | Neuroblastoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <0.1% | Truncation; loss of function in colorectal cancer |
| c.1426G>A (p.Glu476Lys) | Missense | <0.1% | Potential gain-of-function in Wilms tumor |
| c.1870_1871del (p.Leu624fs) | Frameshift | <0.1% | Loss of function; reported in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg335*, p.Leu624fs) lead to truncated protein, disrupting APC recruitment and Wnt regulation.
Gain of Function (GOF)
Rare missense variants (e.g., p.Glu476Lys) may alter protein conformation, potentially enhancing oncogenic signaling.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported; further studies needed.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • cell-cell adhesion |
| • plasma membrane | • APC binding |
| • protein localization to membrane | • negative regulation of canonical Wnt signaling pathway |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• APC-mediated destruction complex (Reactome: R-HSA-4641262)
Protein Summary
AMER3 encodes a 648-amino acid protein containing a conserved N-terminal APC-binding domain and a C-terminal membrane-targeting region. It localizes to the plasma membrane and recruits APC, facilitating β-catenin degradation. The protein is expressed in kidney, colon, and breast tissues, with lower levels in brain and liver. AMER3 acts as a tumor suppressor in colorectal and breast cancers, while somatic mutations contribute to Wilms tumor pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMER3 Knockout HEK293 Cell Line | EDJ-KQ6081 | Human | 205147 | Details Get a Quote |
| AMER3 Knockout HeLa Cell Line | EDJ-KQ59055 | Human | 205147 | Details Get a Quote |
| AMER3 Knockout A-549 Cell Line | EDJ-KQ67533 | Human | 205147 | Details Get a Quote |
| AMER3 Knockout HCT 116 Cell Line | EDJ-KQ75928 | Human | 205147 | Details Get a Quote |
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