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 have clathrin adaptor activity. Involved in Wnt signaling pathway. Predicted to localize to AP-2 adaptor complex and intracellular membrane-bounded organelle. Is expressed in blood; mesoderm; notochord; sensory system; and solid lens vesicle. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability. 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
Intellectual developmental disorder 60 with seizures 618587
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
Family IPR001392 Clathrin adaptor, mu 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 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:A8E7K7 113
UniProtKB:F1QLI6 221
UniProtKB:F1Q9V1 441
UniProtKB:A0A0R4IL09 441
UniProtKB:Q6NWK2 436
UniProtKB:B2GP49 436
UniProtKB:G1K2F5 436
Transcripts
Genome Browsers
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