Version: 8.0.0Date: Tue Jan 28 2025
Gene
ACVR2A
- Species
- Homo sapiens
- Symbol
- ACVR2A
- Name
- activin A receptor type 2A
- Synonyms
- activin A receptor type IIA
- activin A receptor, type IIA
- Biotype
- protein coding gene
- Automated Description
- Enables activin receptor activity, type I; activin receptor activity, type II; and coreceptor activity. Contributes to activin binding activity and activin receptor activity. Involved in several processes, including positive regulation of cell differentiation; positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor superfamily signaling pathway. Acts upstream of or within positive regulation of protein phosphorylation. Located in cytoplasm. Part of inhibin-betaglycan-ActRII complex and receptor complex. Implicated in Lynch syndrome and colon cancer. Biomarker of pancreatic cancer.
- RGD Description
- This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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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
- Chr2:147844517...147930826 + (86.31 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.