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. 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 | 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
|
436 | |||||||||
|
UniProtKB:F1RD00
|
436 | |||||||||
|
UniProtKB:A0A8M3B366
|
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