Gene

actn2a

ID
ZDB-GENE-141114-2
Name
actinin, alpha 2a
Symbol
actn2a Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Unmapped
Description
Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Is expressed in heart. Orthologous to human ACTN2 (actinin alpha 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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 actn2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myopathy 8 Alliance Congenital myopathy 8 618654
dilated cardiomyopathy 1AA Alliance Cardiomyopathy, dilated, 1AA, with or without LVNC 612158
dilated cardiomyopathy 1AA Alliance Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Myopathy, distal, 6, adult onset 618655
Associated With actn2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Transcripts
Genome Browsers
No data available
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations