APC2 Chromosome 19
APC regulator of Wnt signaling pathway 2
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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
RS111280997
Conflicting classifications of pathogenicity
Health Risk
RS137877386
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cortical dysplasia, complex
Health Risk
RS144391493
Conflicting classifications of pathogenicity
APC2-related disorder, Inborn genetic diseases, APC2-related disorder
Health Risk
RS150518571
Conflicting classifications of pathogenicity
Health Risk
RS200347634
Conflicting classifications of pathogenicity
APC2-related disorder, APC2-related disorder
Health Risk
RS552602290
Conflicting classifications of pathogenicity
Inborn genetic diseases, APC2-related disorder, Inborn genetic diseases
Health Risk
RS555371409
Conflicting classifications of pathogenicity
Inborn genetic diseases, APC2-related disorder, Inborn genetic diseases
Health Risk
RS568333498
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 74, Inborn genetic diseases
Health Risk
RS747709330
Conflicting classifications of pathogenicity
Health Risk
RS751591853
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763459814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766720269
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
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 |