Gene

actn2b

ID

ZDB-GENE-051127-39

Name

actinin, alpha 2b

Symbol

actn2b Nomenclature History

Previous Names

actn2
wu:fd44c03
zgc:123223

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have actin binding activity and calcium ion binding activity. Involved in animal organ development and striated muscle cell development. Is expressed in several structures, including brain; cardiovascular system; eye; muscle; and ovary. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Orthologous to human ACTN2 (actinin alpha 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

12 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 11 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With actn2b 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 actn2b 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

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	EF-hand, Ca insensitive	EF-hand domain	EF-hand domain pair	Spectrin/alpha-actinin	Spectrin repeat
UniProtKB:Q2YDR5 InterPro	895

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	actn2b-201 (1) Ensembl	Havana	2470 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	actn2b-202 (1) Ensembl	Havana	2986 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-actn2		actn2b		Rabbit	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations