Gene

actb2

ID
ZDB-GENE-000329-3
Name
actin, beta 2
Symbol
actb2 Nomenclature History
Previous Names
  • bact2
  • bactin2 (1)
  • fa56g06
  • fb38a10
  • wu:fa56g06 (1)
  • wu:fb38a10 (1)
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be located in several cellular components, including cytoskeleton; dense body; and focal adhesion. Predicted to be active in actin filament. Is expressed in several structures, including brain; eye; integument; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; autosomal dominant nonsyndromic deafness 20; and thrombocytopenia. Orthologous to several human genes including ACTB (actin beta).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
23 figures from 18 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
ihblqs1Allele with one deletionExon 2UnknownCRISPR
sa45150Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-actb2
    Parvez et al., 2021
    CRISPR2-actb2
      Parvez et al., 2021
      1 - 2 of 2
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      Human Disease
      Associated With actb2 Human Ortholog
      Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
      Baraitser-Winter syndrome 1 Alliance Baraitser-Winter syndrome 1 243310
      Becker nevus, syndromic or isolated, somatic mosaic 604919
      Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic 620470
      Dystonia-deafness syndrome 1 607371
      Thrombocytopenia 8, with dysmorphic features and developmental delay 620475
      1 - 5 of 5
      Associated With actb2 Via Experimental Models
      No data available
      Gene Ontology
      Protein Domains
      Domain, Family, and Site Summary
      Type InterPro ID Name
      Conserved_site IPR004001 Actin, conserved site
      Conserved_site IPR020902 Actin/actin-like conserved site
      Family IPR004000 Actin family
      Homologous_superfamily IPR043129 ATPase, nucleotide binding domain
      1 - 4 of 4
      Domain Details Per Protein
      Protein Additional Resources Length Actin/actin-like conserved site Actin, conserved site Actin family ATPase, nucleotide binding domain
      UniProtKB:Q7ZVF9 InterPro 375
      UniProtKB:A8WG05 InterPro 375
      1 - 2 of 2
      Transcripts
      Genome Browsers
      Genome Build: GRCz11Chromosome: 3
      Type Name Annotation Method Has Havana Data Length (nt) Analysis
      aberrant processed transcript actb2-207 (1) Ensembl 1,118 nt
      mRNA actb2-201 (1) Ensembl 1,762 nt
      mRNA actb2-206 (1) Ensembl 1,789 nt
      mRNA actb2-208 (1) Ensembl 1,145 nt
      ncRNA actb2-003 (1) Ensembl 730 nt
      1 - 5 of 8 Show all
      Interactions and Pathways
      No data available
      Antibodies
      No data available
      Plasmids
      Constructs
      Construct Regulatory Region Coding Sequence Species Tg Lines Citations
      Tg(-5actb2:cetn4-GFP)
      • actb2
      • Danio rerio
      1 (15)
      Tg(-9.8actb2:LOXP-DsRed-LOXP-EGFP)
      • actb2
      • Danio rerio
      1 (31)
      Tg(actb2:EGFP)
      • actb2
      • Danio rerio
      1 (23)
      Tg(actb2:LOXP-STOP-LOXP-DsRedEx)
      • actb2
      • Danio rerio
      1 (28)
      Tg(actb2:mCherry,myl7:EGFP)
      • Danio rerio
      1 (7)
      Tg(actb2:Mmu.Arl13b-GFP)
      • actb2
      • Danio rerio
      • Mus musculus
      1 (59)
      Tg(actb2:pxn-EGFP)
      • actb2
      • Danio rerio
      1 (9)
      Tg(Xla.Eef1a1-actb2:LOXP-LOX5171-FRT-F3-EGFP,mCherry)
      • actb2
      • Danio rerio
      • Xenopus laevis
      3 (14)
      Tg2(actb2:EGFP-CAAX)
      • actb2
      • Danio rerio
      1 (7)
      Tg2(actb2:h2az2a-mCherry)
      • actb2
      • Danio rerio
      1 (2)
      1 - 10 of 207
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      Marker Relationships
      1 - 10 of 10
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      Sequences
      Orthology
      Comparative Orthology
      Alliance
      Gene Tree
      Ensembl
      Species Symbol Chromosome Accession # Evidence
      HumanACTB7
      Conserved genome location (synteny) (1)
      Amino acid sequence comparison (1)
      MouseActb5
      Conserved genome location (synteny) (1)
      Citations
      1 - 10 of 306
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