ACVR2B
Activin A Receptor Type 2B
Gene Information Card
| Symbol | ACVR2B |
|---|---|
| Full Name | Activin A Receptor Type 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 93 ncbi.nlm.nih.gov/gene/93 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q13705 |
| OMIM ID | 602730 |
| HGNC ID | 174 |
| Aliases | ActR-IIB, ACTRIIB, ACVR2 |
Description
The ACVR2B gene encodes activin A receptor type 2B, a transmembrane serine/threonine kinase receptor that binds activins, inhibins, and other TGF-beta superfamily ligands. It mediates signaling through SMAD proteins, regulating cell proliferation, differentiation, apoptosis, and muscle growth. Mutations and altered expression are implicated in cancers, muscle wasting disorders, and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Somatic mutations in ACVR2B (e.g., frameshift in polyadenine tract) lead to loss of TGF-beta growth suppression, promoting tumorigenesis. | ClinVar, COSMIC |
| Pancreatic Cancer | Inactivating mutations disrupt activin signaling, contributing to uncontrolled cell proliferation. | COSMIC, NCBI |
| Muscle Atrophy | Reduced ACVR2B signaling via myostatin inhibition leads to muscle wasting; therapeutic targeting is explored. | OMIM, PubMed |
| Fibrodysplasia Ossificans Progressiva (FOP) | ACVR2B mutations may modify BMP signaling, though primary cause is ACVR1 mutation. | OMIM |
| Endometrial Cancer | Frameshift mutations in microsatellite regions of ACVR2B are frequent in MSI-high tumors. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 8.9 | Moderate expression |
| A549 | 6.5 | Low expression |
| MCF7 | 10.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.70_71insA (p.Thr24Asnfs*5) | Frameshift insertion | 0.5% in colorectal cancer | Loss of function; truncated receptor |
| c.68_69del (p.Thr23Argfs*6) | Frameshift deletion | 0.3% in endometrial cancer | Loss of function; disrupted kinase domain |
| c.125G>A (p.Arg42Gln) | Missense | <0.1% in pan-cancer | Unknown; predicted damaging |
| c.1045C>T (p.Arg349*) | Nonsense | 0.2% in gastric cancer | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in the polyadenine tract or kinase domain abolish receptor signaling, leading to loss of TGF-beta-mediated growth suppression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ACVR2B.
Dominant Negative (DN)
Truncated receptors may dimerize with wild-type receptors, impairing signaling in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • activin receptor activity | • transmembrane receptor protein serine/threonine kinase activity |
| • SMAD binding | • protein homodimerization activity |
| • signal transduction | • cell differentiation |
| • negative regulation of cell proliferation | • muscle cell development |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Activin signaling
• Myostatin signaling
• SMAD2/SMAD3 phosphorylation cascade
Protein Summary
ACVR2B is a 512-amino acid transmembrane receptor with an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular serine/threonine kinase domain. Upon ligand binding (e.g., activin, myostatin), it phosphorylates SMAD2/3, which complex with SMAD4 to regulate gene transcription. The receptor is critical for muscle growth regulation and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACVR2B Knockout HEK293 Cell Line | EDJ-KQ364 | Human | 93 | Details Get a Quote |
| ACVR2B Knockout A-549 Cell Line | EDJ-KQ18553 | Human | 93 | Details Get a Quote |
| ACVR2B Knockout HCT 116 Cell Line | EDJ-KQ18554 | Human | 93 | Details Get a Quote |
| ACVR2B Knockout HeLa Cell Line | EDJ-KQ18555 | Human | 93 | Details Get a Quote |
| ACVR2A & ACVR2B Knockout HEK293 Cell Line | EDC07673 | Human | 92 & 93 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
