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 enable actin binding activity and calcium ion binding activity. Acts upstream of or within animal organ development and 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
11 figures from 4 publications
Cross-Species Comparison
High Throughput Data
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
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, congenital with structured cores and Z-line abnormalities 618654
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 895
UniProtKB:A0A2R8QBL5 895
UniProtKB:D1GJ55 895
UniProtKB:E9QCQ2 126
UniProtKB:E9QFR8 894
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-actn2 Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations