Version: 8.0.0Date: Tue Jan 28 2025
Gene
act-2
- Species
- Caenorhabditis elegans
- Symbol
- act-2
- Name
- ACTin 2
- Synonyms
- act2
- CELE_T04C12.5
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable ATP binding activity. Involved in several processes, including cortical actin cytoskeleton organization; cytoskeleton-dependent cytokinesis; and embryo development. Located in actin filament and cell cortex. Is expressed in body wall musculature; gonad; hypodermis; and neurons. 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).
- WB Description
- act-2 encodes one of five C. elegans actins; act-2 functions redundantly in early embryonic cortical microfilaments with act-1 and act-3, and dominant mutations in act-2 result in uncoordinated locomotion; an ACT-2::GFP reporter fusion is expressed in the cytoplasm of embryonic cells and is also found in contractile filaments in adult muscle cells.
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11937
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
- None
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- ChrV:11076777...11078154 - (1.38 kb)
- Assembly version
- WBcel235
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.