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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APC2
APC regulator of Wnt signaling pathway 2
Chromosome 19 · 19p13.3
NCBI Gene: 10297Ensembl: ENSG00000115266.12HGNC: HGNC:24036UniProt: O95996
49PubMed Papers
22Diseases
0Drugs
24Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic microtubulefilamentous actinprotein bindingbeta-catenin bindingcomplex cortical dysplasia with other brain malformationsSotos syndromeintellectual developmental disorder, autosomal recessive 74lissencephaly spectrum disorders
✦AI Summary

APC2 is a cytoplasmic protein that functions as a negative regulator of Wnt/β-catenin signaling and a modulator of cytoskeletal dynamics. Mechanistically, APC2 promotes rapid degradation of β-catenin (CTNNB1), thereby suppressing canonical Wnt pathway activation 123. Additionally, APC2 stabilizes microtubules and regulates actin fiber dynamics through activation of Rho family GTPases 4. Subcellularly, APC2 localizes to the Golgi apparatus, actin filaments, and occasionally microtubules, suggesting roles in cytoskeletal organization and cell adhesion 2. APC2 dysfunction is implicated in cancer progression. Across TCGA, APC2 mutations are enriched 3-fold in non-T-cell-inflamed tumors, where activated β-catenin signaling promotes immune exclusion 5. In esophageal squamous cell carcinoma, reduced APC expression via epitranscriptomic downregulation correlates with poor prognosis and enhanced β-catenin-mediated proliferation 6. Furthermore, APC2 methylation is significantly elevated in tobacco use disorder patients, suggesting epigenetic dysregulation in disease states 7. APC2 allelic imbalance occurs in 95% of ovarian cancers, indicating tumor suppressor function 2. Germline APC2 variants are associated with cortical dysplasia and intellectual disability, highlighting developmental importance.

Sources cited
1
APC2 stabilizes microtubules and activates Rho family GTPases to regulate actin fiber dynamics
PMID: 25753423
2
APC2 functions in Wnt signaling by promoting rapid degradation of CTNNB1
PMID: 10021369
3
APC2 localizes to Golgi apparatus, actin filaments, and microtubules; shows allelic imbalance in 95% of ovarian cancers
PMID: 11691822
4
APC2 promotes CTNNB1 degradation in Wnt signaling
PMID: 9823329
5
APC2 mutations are enriched 3-fold in non-T-cell-inflamed tumors with activated β-catenin signaling
PMID: 30635339
6
Reduced APC expression via METTL3-mediated m6A modification correlates with poor prognosis in esophageal squamous cell carcinoma
PMID: 34155197
7
APC2 promoter methylation is significantly elevated in tobacco use disorder patients
PMID: 35170441
Disease Associationsⓘ22
complex cortical dysplasia with other brain malformationsOpen Targets
0.72Strong
Sotos syndromeOpen Targets
0.60Moderate
intellectual developmental disorder, autosomal recessive 74Open Targets
0.59Moderate
lissencephaly spectrum disordersOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.34Weak
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.26Weak
Tracheoesophageal fistulaOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
response to COVID-19 vaccineOpen Targets
0.19Weak
benign neoplasm of eyeOpen Targets
0.17Weak
complex cortical dysplasia with other brain malformations 1Open Targets
0.12Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
acute cystitisOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.07Suggestive
lissencephaly due to TUBA1A mutationOpen Targets
0.05Suggestive
Polymicrogyria due to TUBB2B mutationOpen Targets
0.05Suggestive
lissencephaly 4Open Targets
0.05Suggestive
lissencephaly type 1 due to doublecortin gene mutationOpen Targets
0.05Suggestive
Cortical dysplasia, complex, with other brain malformations 10UniProt
Intellectual developmental disorder, autosomal recessive 74UniProt
Pathogenic Variants24
NM_005883.3(APC2):c.650_656dup (p.Glu220fs)Pathogenic
APC2-related disorder
★☆☆☆2026→ Residue 220
NM_005883.3(APC2):c.1000_1016dup (p.Ala340fs)Pathogenic
not provided
★☆☆☆2025→ Residue 340
NM_005883.3(APC2):c.1395C>A (p.Tyr465Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 465
NM_005883.3(APC2):c.797dup (p.Gln267fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 74
★☆☆☆2024→ Residue 267
NM_005883.3(APC2):c.6184_6193del (p.Pro2062fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 74
★☆☆☆2024→ Residue 2062
NM_005883.3(APC2):c.2931del (p.Glu977fs)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 10
★☆☆☆2024→ Residue 977
NM_005883.3(APC2):c.1176_1189del (p.Asp392fs)Pathogenic
not provided
★☆☆☆2024→ Residue 392
NM_005883.3(APC2):c.1694_1695del (p.Thr565fs)Pathogenic
not provided
★☆☆☆2023→ Residue 565
NM_005883.3(APC2):c.409del (p.Glu137fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 74
★☆☆☆2023→ Residue 137
NM_005883.3(APC2):c.2153_2168del (p.Leu718fs)Likely pathogenic
not provided
★☆☆☆2023→ Residue 718
NM_005883.3(APC2):c.3397C>T (p.Arg1133Ter)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 10
★☆☆☆2023→ Residue 1133
NM_005883.3(APC2):c.759dup (p.Glu254fs)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 10
★☆☆☆2023→ Residue 254
NM_005883.3(APC2):c.6638_6640delinsCT (p.Glu2213fs)Likely pathogenic
not provided
★☆☆☆2022→ Residue 2213
NM_005883.3(APC2):c.1741del (p.Leu581fs)Pathogenic
not provided
★☆☆☆2022→ Residue 581
NM_005883.3(APC2):c.935dup (p.Cys313fs)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 10;Intellectual developmental disorder, autosomal recessive 74
★☆☆☆→ Residue 313
NM_005883.3(APC2):c.2916_2923del (p.Cys974fs)Likely pathogenic
APC2-related disorder
☆☆☆☆2024→ Residue 974
NM_005883.3(APC2):c.1638+1G>CLikely pathogenic
APC2-related disorder
☆☆☆☆2024
NM_005883.3(APC2):c.5199dup (p.Lys1734fs)Pathogenic
Intellectual developmental disorder, autosomal recessive 74
☆☆☆☆2022→ Residue 1734
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu)Pathogenic
Intellectual developmental disorder, autosomal recessive 74
☆☆☆☆2022→ Residue 2207
NM_005883.3(APC2):c.2840_2846del (p.Leu947fs)Pathogenic
Cortical dysplasia, complex, with other brain malformations 10
☆☆☆☆2019→ Residue 947
View on ClinVar ↗
Related Genes
ARHGEF4Protein interaction100%SPATA13Protein interaction98%TBL1XR1Protein interaction96%CTNNB1Protein interaction93%TBL1YProtein interaction93%CDH1Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
7%
Liver
2%
Heart
2%
Ovary
2%
Lung
1%
Gene Interaction Network
Click a node to explore
APC2ARHGEF4SPATA13TBL1XR1CTNNB1TBL1YCDH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95996
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.58–0.96]
RankingsWhere APC2 stands among ~20K protein-coding genes
  • #8,908of 20,598
    Most Researched49
  • #2,024of 5,498
    Most Pathogenic Variants24
  • #9,060of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedAPC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KDM1A promotes thyroid cancer progression and maintains stemness through the Wnt/β-catenin signaling pathway.
PMID: 35198054
Theranostics · 2022
1.00
2
National and subnational incidence, mortality and associated factors of colorectal cancer in China: A systematic analysis and modelling study.
PMID: 37824177
J Glob Health · 2023
0.90
3
WNT/β-catenin Pathway Activation Correlates with Immune Exclusion across Human Cancers.
PMID: 30635339
Clin Cancer Res · 2019
0.80
4
Examination under anesthetic for occult pelvic ring instability.
PMID: 21857421
J Orthop Trauma · 2011
0.70
5
Methylation of APC2, NR3C1, and DRD2 gene promoters in turkish patients with tobacco use disorder.
PMID: 35170441
Niger J Clin Pract · 2022
0.60