Gene Gene information from NCBI Gene database.
Entrez ID 219287
Gene name APC membrane recruitment protein 2
Gene symbol AMER2
Synonyms (NCBI Gene)
FAM123A
Chromosome 13
Chromosome location 13q12.13
miRNA miRNA information provided by mirtarbase database.
32
miRTarBase ID miRNA Experiments Reference
MIRT660713 hsa-miR-551b-5p HITS-CLIP 23824327
MIRT660711 hsa-miR-651-3p HITS-CLIP 23824327
MIRT660710 hsa-miR-6830-5p HITS-CLIP 23824327
MIRT572845 hsa-miR-3912-3p PAR-CLIP 20371350
MIRT572844 hsa-miR-5197-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22128170
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IBA
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 22128170
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 22128170
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614659 26360 ENSG00000165566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N7J2
Protein name APC membrane recruitment protein 2 (Amer2) (Protein FAM123A)
Protein function Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key reg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09422 WTX 99 590 WTX protein Family
Sequence
Sequence length 671
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 24251807
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35202405 Associate
★☆☆☆☆
Found in Text Mining only
Nephroblastoma Nephroblastoma BEFREE 24251807
★☆☆☆☆
Found in Text Mining only