ACVR2A
Activin A Receptor Type 2A
Gene Information Card
| Symbol | ACVR2A |
|---|---|
| Full Name | Activin A Receptor Type 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 2q22.3 |
| NCBI Gene ID | 92 ncbi.nlm.nih.gov/gene/92 |
| Ensembl ID | ENSG00000121989 |
| UniProt ID | P27037 |
| OMIM ID | 102581 |
| HGNC ID | 173 |
| Aliases | ACVR2, ACTRII, ACTRIIA |
Description
ACVR2A encodes activin A receptor type 2A, a transmembrane serine/threonine kinase receptor that binds activin and other TGF-beta family ligands. Upon ligand binding, it forms a complex with type 1 receptors and phosphorylates SMAD proteins, regulating gene expression involved in cell growth, differentiation, and apoptosis. Mutations in ACVR2A are associated with fibrodysplasia ossificans progressiva and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fibrodysplasia Ossificans Progressiva (FOP) | Gain-of-function mutations in ACVR2A lead to constitutive activation of BMP signaling, causing heterotopic ossification. | OMIM #102581 |
| Colorectal Cancer | Somatic frameshift mutations in ACVR2A (microsatellite instability) result in loss of receptor function, promoting tumorigenesis. | COSMIC, ClinVar |
| Pancreatic Cancer | ACVR2A mutations contribute to disrupted TGF-beta signaling, enhancing cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 6.2 | Low |
| Lung | 14.1 | Medium |
| Muscle | 9.5 | Low |
| Pancreas | 5.8 | Low |
| Placenta | 18.6 | Medium |
| Small Intestine | 11.0 | Medium |
| Spleen | 7.3 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| HepG2 | 9.1 | Hepatocellular carcinoma cells |
| MCF7 | 7.5 | Breast cancer cells |
| A549 | 10.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.617G>A (p.Arg206His) | Missense | <0.1% | Gain-of-function; associated with FOP |
| c.859delA (p.Lys287fs) | Frameshift | Variable in MSI tumors | Loss-of-function; common in colorectal cancer |
| c.1168C>T (p.Arg390*) | Nonsense | <0.1% | Loss-of-function; reported in pancreatic cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in the kinase domain or extracellular domain disrupt receptor signaling, leading to reduced SMAD phosphorylation and impaired growth inhibition.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg206His) enhance ligand-independent receptor activation, increasing BMP signaling and ectopic bone formation.
Dominant Negative (DN)
Truncated receptors lacking the kinase domain can dimerize with wild-type receptors, inhibiting normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • activin receptor activity | • transmembrane receptor protein serine/threonine kinase activity |
| • SMAD binding | • BMP receptor activity |
| • protein phosphorylation | • cell differentiation |
| • apoptotic process | • positive regulation of transcription by RNA polymerase II |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Activin receptor signaling
• BMP signaling pathway
Protein Summary
ACVR2A is a 513-amino-acid transmembrane receptor with an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular serine/threonine kinase domain. It binds activins, inhibins, and BMPs, forming heteromeric complexes with type 1 receptors (e.g., ACVR1B, ACVR1C). The activated receptor phosphorylates SMAD2/3, which translocate to the nucleus to regulate target genes. ACVR2A is widely expressed, with highest levels in testis and placenta.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACVR2A Knockout HEK293 Cell Line | EDC07756 | Human | 92 | Details Get a Quote |
| ACVR2A Knockout A-549 Cell Line | EDJ-KQ23897 | Human | 92 | Details Get a Quote |
| ACVR2A Knockout HCT 116 Cell Line | EDJ-KQ23898 | Human | 92 | Details Get a Quote |
| ACVR2A Knockout HeLa Cell Line | EDJ-KQ23899 | Human | 92 | Details Get a Quote |
| ACVR2A and ACVR2B Knockout HEK293 Cell Line | EDC07673 | Human | 92 and 93 | Details Get a Quote |
| ACVR2A Knockout HAP1 Cell Line | EDC08289 | Human | 92 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
