Gene

actn3b

ID
ZDB-GENE-030131-2040
Name
actinin alpha 3b
Symbol
actn3b Nomenclature History
Previous Names
  • fb95c03
  • wu:fb95c03
  • wu:fc11d03
  • zgc:77243 (1)
Type
protein_coding_gene
Location
Chr: 7 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 located in actin cytoskeleton. 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; pharyngeal arch 3-7; post-vent region; and segmental plate. Orthologous to human ACTN3 (actinin alpha 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hza101Allele with one deletionExon 24UnknownCRISPR
la016242TgTransgenic insertionUnknownUnknownDNA
sa20858Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-actn3b,nup188Zebrafish Nomenclature Committee
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Human Disease
Associated With actn3b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
[Alpha-actinin-3 deficiency] 617749
[Sprinting performance] 617749
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Associated With actn3b 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:Q8AX99 InterPro 898
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 7
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA actn3b-201 (1) Ensembl 4,785 nt
mRNA actn3b-203 (1) Ensembl 6,222 nt
ncRNA actn3b-002 (1) Ensembl 432 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(myl7:actn3b-EGFP)
  • Danio rerio
1 (18)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-184C11ZFIN Curated Data
Contained inBACCH211-258D20
EncodesESTfb95c03
EncodesESTfc11d03
EncodescDNAMGC:77243ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanACTN311
Amino acid sequence comparison (3)
MouseActn319
Amino acid sequence comparison (2)
Citations
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