Gene

actn3a

ID

ZDB-GENE-000329-9

Name

actinin alpha 3a

Symbol

actn3a Nomenclature History

Previous Names

actn3 (1)
actnl
zgc:63559

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and muscle cell development. Predicted to be active in several cellular components, including Z disc; cell junction; and cortical actin cytoskeleton. Is expressed in several structures, including musculature system; ovary; pectoral fin; pharyngeal arch 3-7; and segmental plate. Orthologous to human ACTN3 (actinin alpha 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

16 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7148639 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Frese et al., 2015
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With actn3a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		[Alpha-actinin-3 deficiency]	617749
		[Sprinting performance]	617749

Associated With actn3a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001715	Calponin homology domain
Domain	IPR002048	EF-hand domain
Domain	IPR014837	EF-hand, Ca insensitive
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR002017	Spectrin repeat
Repeat	IPR018159	Spectrin/alpha-actinin