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 lipid binding activity. Involved in Wnt signaling pathway. Predicted to localize to clathrin adaptor complex; clathrin-coated pit; and plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability. Is expressed in blood; mesoderm; notochord; sensory system; and solid lens vesicle. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb34 (5 images)
IMAGE:7161024 (3 images)

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
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:F1Q9V1 InterPro	441
UniProtKB:Q6NWK2 InterPro	436

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ap2m1a-201 (1) Ensembl	Ensembl	2,127 nt	Select Tool ZFIN BLAST
mRNA	ap2m1a-202 (1) Ensembl	Ensembl	2,187 nt	Select Tool
mRNA	ap2m1a-203 (1) Ensembl	Ensembl	1,326 nt	Select Tool ZFIN BLAST
mRNA	ap2m1a-205 (1) Ensembl	Ensembl	662 nt	Select Tool
mRNA	ap2m1a-206 (1) Ensembl	Ensembl	519 nt	Select Tool
mRNA	ap2m1a-207 (1) Ensembl	Ensembl	2,142 nt	Select Tool ZFIN BLAST
ncRNA	ap2m1a-003 (1) Ensembl	Ensembl	199 nt	Select Tool

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