Gene

ap2m1a

ID
ZDB-GENE-030131-9784
Name
adaptor related protein complex 2 subunit mu 1a
Symbol
ap2m1a Nomenclature History
Previous Names
  • cb34 (1)
  • sb:cb34
  • wu:fa97a10
  • zgc:85653 (1)
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
Expression
All Expression Data
11 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap2m1a Human Ortholog
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
1 - 1 of 1
Associated With ap2m1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
1 - 5 of 9 Show all
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
1 - 2 of 2
Transcripts
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
1 - 5 of 7 Show all
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations