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 have actin filament binding activity and calcium ion binding activity. Predicted to be involved in actin crosslink formation and actin filament bundle assembly. 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 (gene/pseudogene)).

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

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