Gene
apc2
- ID
- ZDB-GENE-090422-1
- Name
- APC regulator of WNT signaling pathway 2
- Symbol
- apc2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable beta-catenin binding activity; gamma-catenin binding activity; and microtubule binding activity. Predicted to be involved in several processes, including negative regulation of canonical Wnt signaling pathway; negative regulation of microtubule depolymerization; and positive regulation of protein catabolic process. Predicted to act upstream of or within Wnt signaling pathway and negative regulation of Wnt signaling pathway. Predicted to be part of beta-catenin destruction complex and catenin complex. Predicted to colocalize with cytoplasmic microtubule. Human ortholog(s) of this gene implicated in Sotos syndrome 3; autosomal recessive intellectual developmental disorder 74; and complex cortical dysplasia with other brain malformations. Orthologous to human APC2 (APC regulator of WNT signaling pathway 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 74 | Alliance | Intellectual developmental disorder, autosomal recessive 74 | 617169 |
| Sotos syndrome 3 | Alliance | Intellectual developmental disorder, autosomal recessive 74 | 617169 |
| Cortical dysplasia, complex, with other brain malformations 10 | 618677 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR009234 | Adenomatous polyposis coli protein basic domain |
| Domain | IPR032038 | Adenomatous polyposis coli, N-terminal dimerisation domain |
| Family | IPR026818 | Adenomatous polyposis coli (APC) family |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR026831 | Adenomatous polyposis coli protein |
| Homologous_superfamily | IPR036149 | APC, N-terminal coiled-coil domain superfamily |
| Repeat | IPR000225 | Armadillo |
| Repeat | IPR009223 | Adenomatous polyposis coli protein repeat |
| Repeat | IPR009224 | SAMP |
| Repeat | IPR041257 | Adenomatous polyposis coli (APC) repeat |
Domain Details Per Protein
| Protein | Length | Adenomatous polyposis coli (APC) family | Adenomatous polyposis coli (APC) repeat | Adenomatous polyposis coli, N-terminal dimerisation domain | Adenomatous polyposis coli protein | Adenomatous polyposis coli protein basic domain | Adenomatous polyposis coli protein repeat | APC, N-terminal coiled-coil domain superfamily | Armadillo | Armadillo-like helical | Armadillo-type fold | SAMP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QMA5
|
2119 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance