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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AMER1
APC membrane recruitment protein 1
Chromosome X · Xq11.2
NCBI Gene: 139285Ensembl: ENSG00000184675.11HGNC: HGNC:26837UniProt: Q5JTC6
89PubMed Papers
21Diseases
0Drugs
46Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylinositol-4,5-bisphosphate bindingbeta-catenin bindingbeta-catenin destruction complex bindingosteopathia striata with cranial sclerosisOsteopathia striata - cranial sclerosiscolorectal adenocarcinomacancer
✦AI Summary

AMER1 (APC membrane recruitment protein 1) is a crucial regulator of the canonical Wnt signaling pathway that acts as both a positive and negative modulator depending on cellular context 1. The protein functions by binding phosphatidylinositol 4,5-bisphosphate and translocating to the cell membrane, where it interacts with components of the β-catenin destruction complex. AMER1 promotes β-catenin degradation through ubiquitination mechanisms, specifically by binding to SLC7A11 and ferritin light chain (FTL) and recruiting β-TrCP1/2 for their degradation 2. Phylogenetic analysis reveals AMER1 belongs to a vertebrate-specific gene family that originated early in vertebrate evolution through whole genome duplications 1. Clinically, AMER1 is significant as a tumor suppressor gene with germline mutations causing osteopathia striata with cranial sclerosis and predisposing to Wilms tumor 3. AMER1 deficiency promotes colorectal cancer metastasis by inhibiting ferroptosis, allowing cancer cells to survive oxidative stress during hematogenous spread 2. Somatic AMER1 mutations occur in various cancers including colorectal tumors and are associated with poor prognosis in metastatic disease 4. The gene also shows involvement in meningioma development, suggesting broader tumor suppressor functions 5.

Sources cited
1
AMER1 acts as antagonist of canonical Wnt/β-catenin signaling and belongs to vertebrate-specific gene family
PMID: 20843316
2
AMER1 binds SLC7A11 and FTL, recruits β-TrCP1/2 for degradation, and deficiency promotes metastasis by inhibiting ferroptosis
PMID: 37682704
3
Germline AMER1 mutations predispose to Wilms tumor and are associated with osteopathia striata with cranial sclerosis
PMID: 40399763
4
AMER1 somatic mutations occur in colorectal cancer and are associated with poor prognosis in metastatic disease
PMID: 37146911
5
AMER1 germline mutations may contribute to meningioma pathogenesis
PMID: 41151894
Disease Associationsⓘ21
osteopathia striata with cranial sclerosisOpen Targets
0.80Strong
Osteopathia striata - cranial sclerosisOpen Targets
0.72Strong
colorectal adenocarcinomaOpen Targets
0.62Moderate
cancerOpen Targets
0.55Moderate
colon adenocarcinomaOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.49Moderate
colorectal cancerOpen Targets
0.47Moderate
cleft palateOpen Targets
0.45Moderate
chronic myelogenous leukemiaOpen Targets
0.44Moderate
NephroblastomaOpen Targets
0.42Moderate
kidney Wilms tumorOpen Targets
0.37Weak
rectal adenocarcinomaOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Osteopathia striata with cranial sclerosisUniProt
Pathogenic Variants46
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)Pathogenic
Osteopathia striata with cranial sclerosis|not provided|Inborn genetic diseases|AMER1-related disorder
★★☆☆2025→ Residue 358
NM_152424.4(AMER1):c.867_868del (p.Lys292fs)Pathogenic
not provided
★★☆☆2025→ Residue 292
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)Pathogenic
Osteopathia striata with cranial sclerosis|not provided|Neoplasm|Inborn genetic diseases
★★☆☆2025→ Residue 353
NM_152424.4(AMER1):c.694del (p.Gln232fs)Pathogenic
Osteopathia striata with cranial sclerosis|not provided
★★☆☆2024→ Residue 232
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)Pathogenic
not provided|Osteopathia striata with cranial sclerosis
★★☆☆2023→ Residue 497
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)Pathogenic
Osteopathia striata with cranial sclerosis
★★☆☆2022→ Residue 189
NM_152424.4(AMER1):c.1489del (p.Arg497fs)Pathogenic
not provided|Cleft palate
★★☆☆2018→ Residue 497
NM_152424.4(AMER1):c.1003C>T (p.Gln335Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 335
NM_152424.4(AMER1):c.780dup (p.Pro261fs)Pathogenic
Osteopathia striata with cranial sclerosis|not provided
★☆☆☆2025→ Residue 261
NM_152424.4(AMER1):c.1121T>A (p.Leu374Ter)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 374
NM_152424.4(AMER1):c.640del (p.Val214fs)Likely pathogenic
Colorectal cancer|not provided
★☆☆☆2025→ Residue 214
NM_152424.4(AMER1):c.992_996del (p.Ile331fs)Pathogenic
not provided
★☆☆☆2025→ Residue 331
NM_152424.4(AMER1):c.1801C>T (p.Arg601Ter)Likely pathogenic
not provided|Nephroblastoma
★☆☆☆2024→ Residue 601
NM_152424.4(AMER1):c.310del (p.His104fs)Pathogenic
Osteopathia striata with cranial sclerosis
★☆☆☆2024→ Residue 104
NM_152424.4(AMER1):c.1180G>T (p.Glu394Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 394
NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)Likely pathogenic
Osteopathia striata with cranial sclerosis
★☆☆☆2023→ Residue 526
NM_152424.4(AMER1):c.1756C>T (p.Arg586Ter)Likely pathogenic
Osteopathia striata with cranial sclerosis
★☆☆☆2023→ Residue 586
NM_152424.4(AMER1):c.645del (p.Cys216fs)Pathogenic
not provided
★☆☆☆2023→ Residue 216
NM_152424.4(AMER1):c.943del (p.Asp315fs)Pathogenic
not provided
★☆☆☆2023→ Residue 315
NM_152424.4(AMER1):c.871G>T (p.Glu291Ter)Likely pathogenic
Osteopathia striata with cranial sclerosis
★☆☆☆2022→ Residue 291
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction100%CSNK1A1Protein interaction100%GSK3BProtein interaction100%DVL1Protein interaction99%LRP5Protein interaction90%KEAP1Protein interaction89%
Tissue Expression6 tissues
Ovary
100%
Liver
65%
Heart
49%
Brain
35%
Lung
30%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
AMER1CTNNB1CSNK1A1GSK3BDVL1LRP5KEAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4YK6 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.20–0.46]
RankingsWhere AMER1 stands among ~20K protein-coding genes
  • #5,348of 20,598
    Most Researched89
  • #1,404of 5,498
    Most Pathogenic Variants46
  • #2,581of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedAMER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
PMID: 35460607
Am J Hum Genet · 2022
1.00
2
Molecular Profiling Provides Clinical Insights Into Targeted and Immunotherapies as Well as Colorectal Cancer Prognosis.
PMID: 37146911
Gastroenterology · 2023
0.90
3
AMER1 deficiency promotes the distant metastasis of colorectal cancer by inhibiting SLC7A11- and FTL-mediated ferroptosis.
PMID: 37682704
Cell Rep · 2023
0.80
4
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.
PMID: 28825729
Nat Genet · 2017
0.70
5
The WTX/AMER1 gene family: evolution, signature and function.
PMID: 20843316
BMC Evol Biol · 2010
0.60