Gene
ap2m1b
- ID
- ZDB-GENE-040426-1103
- Name
- adaptor related protein complex 2 subunit mu 1b
- Symbol
- ap2m1b Nomenclature History
- Previous Names
-
- ap2m1
- zgc:56643 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable clathrin adaptor activity. Acts upstream of or within Wnt signaling pathway. Predicted to be located in clathrin-coated pit and plasma membrane. Predicted to be part of AP-2 adaptor complex. Predicted to be active in cytoplasmic vesicle. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 60 with seizures. Orthologous to human AP2M1 (adaptor related protein complex 2 subunit mu 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139882 (4 images)
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 dominant intellectual developmental disorder 60 with seizures | Alliance | Intellectual developmental disorder 60 with seizures | 618587 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018240 | Clathrin adaptor, mu subunit, conserved site |
| Domain | IPR022775 | AP complex, mu/sigma subunit |
| Domain | IPR028565 | Mu homology domain |
| Domain | IPR043512 | Mu2, C-terminal domain |
| Domain | IPR043532 | AP-2 complex subunit mu, N-terminal |
| Family | IPR001392 | Clathrin adaptor, mu subunit |
| Family | IPR050431 | Adaptor complexes medium subunit |
| Homologous_superfamily | IPR011012 | Longin-like domain superfamily |
| Homologous_superfamily | IPR036168 | AP-2 complex subunit mu, C-terminal superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Adaptor complexes medium subunit | AP-2 complex subunit mu, C-terminal superfamily | AP-2 complex subunit mu, N-terminal | AP complex, mu/sigma subunit | Clathrin adaptor, mu subunit | Clathrin adaptor, mu subunit, conserved site | Longin-like domain superfamily | Mu2, C-terminal domain | Mu homology domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZW98 | InterPro | 436 | |||||||||
| UniProtKB:F1RD00 | InterPro | 436 | |||||||||
| UniProtKB:A0A8M3B366 | InterPro | 441 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ap2m1b-201
(1)
|
Ensembl | 1,311 nt | ||
| mRNA |
ap2m1b-202
(1)
|
Ensembl | 1,793 nt | ||
| mRNA |
ap2m1b-203
(1)
|
Ensembl | 1,799 nt |
Interactions and Pathways
No data available
Plasmids
No data available