APC2 Chromosome 19

APC regulator of Wnt signaling pathway 2
28 variants 28 Health Risk

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What This Gene Does
This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Armadillo repeat containing
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000115266
Associated Conditions (8)
Inborn genetic diseases
Cortical dysplasia
complex
with other brain malformations 10
Intellectual developmental disorder
autosomal recessive 74
APC2-related disorder
Esophageal atresia/tracheoesophageal fistula
Key Variants
All Variants (28)
RSID Category Clinical Significance Conditions
RS111280997 Health Risk Conflicting classifications of pathogenicity
RS137877386 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cortical dysplasia, complex
RS144391493 Health Risk Conflicting classifications of pathogenicity APC2-related disorder, Inborn genetic diseases, APC2-related disorder
RS150518571 Health Risk Conflicting classifications of pathogenicity
RS200347634 Health Risk Conflicting classifications of pathogenicity APC2-related disorder, APC2-related disorder
RS552602290 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, APC2-related disorder, Inborn genetic diseases
RS555371409 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, APC2-related disorder, Inborn genetic diseases
RS568333498 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 74, Inborn genetic diseases
RS747709330 Health Risk Conflicting classifications of pathogenicity
RS751591853 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763459814 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766720269 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768283155 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS923953881 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200660071 Health Risk Likely pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS2083820577 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS2512463430 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 74, Intellectual developmental disorder
RS2512475700 Health Risk Likely pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS2512495372 Health Risk Likely pathogenic APC2-related disorder, APC2-related disorder
RS2512551179 Health Risk Likely pathogenic
RS1338563418 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 74, Intellectual developmental disorder
RS1472207337 Health Risk Pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS1599137041 Health Risk Pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS1599155642 Health Risk Pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS1599166793 Health Risk Pathogenic Cortical dysplasia, complex, with other brain malformations 10
RS2512499111 Health Risk Pathogenic
RS2512499415 Health Risk Pathogenic
RS886040957 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 74, Intellectual developmental disorder
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