Gene
ap2m1a
- ID
- ZDB-GENE-030131-9784
- Name
- adaptor related protein complex 2 subunit mu 1a
- Symbol
- ap2m1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 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. Is expressed in blood; mesoderm; notochord; sensory system; and solid lens 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
- 11 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb34 (5 images)
- IMAGE:7161024 (3 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:F1Q9V1 | InterPro | 441 | |||||||||
| UniProtKB:Q6NWK2 | InterPro | 436 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ap2m1a-201
(1)
|
Ensembl | 2,127 nt | ||
| mRNA |
ap2m1a-202
(1)
|
Ensembl | 2,187 nt | ||
| mRNA |
ap2m1a-203
(1)
|
Ensembl | 1,326 nt | ||
| mRNA |
ap2m1a-205
(1)
|
Ensembl | 662 nt | ||
| mRNA |
ap2m1a-206
(1)
|
Ensembl | 519 nt | ||
| mRNA |
ap2m1a-207
(1)
|
Ensembl | 2,142 nt | ||
| ncRNA |
ap2m1a-003
(1)
|
Ensembl | 199 nt |
Interactions and Pathways
No data available
Plasmids
No data available