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 filament binding activity. Acts upstream of or within eye development; heart development; and striated muscle cell development. Predicted to be located in cytoplasm. Predicted to be active in several cellular components, including Z disc; cell junction; and cortical actin cytoskeleton. 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; congenital myopathy 8; 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
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
Allele Type Localization Consequence Mutagen Supplier
sa274Allele with one point mutationUnknownStop Loss, Premature StopENU
sa36379Allele with one point mutationUnknownPremature StopENU
sa36380Allele with one point mutationUnknownPremature StopENU
sa42906Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources 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
UniProtKB:A0AB32T5N7 InterPro 928
UniProtKB:A0A8M1N882 InterPro 895
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 17
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript actn2b-201 (1) Ensembl 2,470 nt
mRNA actn2b-202 (1) Ensembl 2,986 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-actn2 Rabbit
  • IHC
1
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Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(myl7:actn2b-Eos)
  • Danio rerio
1Chiba et al., 2017
Tg(ttn.2:actn2-EGFP)
  • Danio rerio
1 (6)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-248A14ZFIN Curated Data
Contained inBACDKEY-13B19ZFIN Curated Data
EncodesESTfd44c03
EncodescDNAMGC:123223ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanACTN21
Conserved genome location (synteny) (2)
Nucleotide sequence comparison (1)
Amino acid sequence comparison (4)
Functional complementation (1)
Phylogenetic tree (1)
MouseActn213
Amino acid sequence comparison (2)
Phylogenetic tree (1)
Citations
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