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 have beta-catenin binding activity and gamma-catenin 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 colocalize with cytoplasmic microtubule. Human ortholog(s) of this gene implicated in Sotos syndrome 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