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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACVR2A
activin A receptor type 2A
Chromosome 2 · 2q22.3-q23.1
NCBI Gene: 92Ensembl: ENSG00000121989.16HGNC: HGNC:173UniProt: P27037
141PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinaseReceptor
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of bone mineralizationpositive regulation of activin receptor signaling pathwayactivin receptor signaling pathwayactivin receptor activityhepatocellular carcinomacolorectal adenocarcinomatibia fractureneurodegenerative disease
✦AI Summary

ACVR2A (activin A receptor type 2A) is a transmembrane serine/threonine kinase that functions as a type II receptor in the activin signaling pathway. Upon ligand binding to activin A, activin B, or inhibin A, ACVR2A forms a receptor complex with type I kinases, phosphorylating and activating downstream SMAD transcriptional regulators to control gene expression 12. The receptor promotes osteoblast differentiation and bone mineralization through SMAD-mediated signaling. ACVR2A mutations occur at elevated frequencies in non-viral hepatocellular carcinoma, particularly NASH-related HCC (10% vs 3% in other aetiologies) 3. ACVR2A functions as a tumor suppressor; its silencing increases HCC cell proliferation in vitro 3. ACVR2A deficiency promotes colorectal carcinoma progression through BMP pathway disruption 4 and drives hepatocellular carcinoma by inducing hyperglycolysis and lactate production via SMAD pathway inactivation, leading to regulatory T cell accumulation and immunotherapy resistance 5. Additionally, circular RNA derived from ACVR2A acts as a miRNA sponge to promote HCC progression 6. ACVR2A genetic variants associate with hypertensive disorders of pregnancy 7 and isolated mesiodens formation 8. These findings establish ACVR2A as a critical metabolic and immunological regulator with significant tumor suppressive functions in cancer development.

Sources cited
1
ACVR2A is a receptor for activin A, activin B, and inhibin A
PMID: 17911401
2
ACVR2A ligand binding and SMAD activation mechanism
PMID: 10652306
3
ACVR2A mutations occur in 10% of NASH-HCC vs 3% in other HCC aetiologies; ACVR2A silencing increases HCC cell proliferation
PMID: 33992698
4
ACVR2A mutations contribute to colorectal carcinoma through BMP pathway disruption
PMID: 39487295
5
ACVR2A deficiency induces hyperglycolysis via SMAD pathway inactivation, promoting lactate production and Treg cell recruitment
PMID: 40139191
6
Circular RNA ACVR2A promotes HCC progression through miR-511-5p/PI3K-Akt pathway
PMID: 39107843
7
ACVR2A gene polymorphisms associate with hypertensive disorders of pregnancy
PMID: 31790936
8
ACVR2A synonymous variant associates with isolated human mesiodens
PMID: 33662249
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.49Moderate
colorectal adenocarcinomaOpen Targets
0.46Moderate
tibia fractureOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
ulcerative colitisOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
bone diseaseOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
Duodenal AdenocarcinomaOpen Targets
0.37Weak
Dysplasia in Ulcerative ColitisOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
Rectal Tubular AdenomaOpen Targets
0.37Weak
Rectal Tubulovillous AdenomaOpen Targets
0.37Weak
spinal fusionOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
DIBOTERMIN ALFAApproved
Activin receptor type-2A agonist
Related Genes
GDF11Protein interaction100%ENGProtein interaction100%GDF2Protein interaction100%TGFB1Protein interaction100%MSTNProtein interaction100%ACVR1CProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
95%
Liver
94%
Ovary
88%
Heart
88%
Lung
78%
Gene Interaction Network
Click a node to explore
ACVR2AGDF11ENGGDF2TGFB1MSTNACVR1C
PROTEIN STRUCTURE
Preparing viewer…
PDB3SOC · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.22]
RankingsWhere ACVR2A stands among ~20K protein-coding genes
  • #3,243of 20,598
    Most Researched141 · top quartile
  • #907of 1,025
    FDA-Approved Drug Targets1
  • #582of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedACVR2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis.
PMID: 33992698
J Hepatol · 2021
1.00
2
Positive selection of somatically mutated clones identifies adaptive pathways in metabolic liver disease.
PMID: 37040760
Cell · 2023
0.90
3
Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the
PMID: 33662249
Pediatr Dent · 2021
0.80
4
Extracellular vesicles from adipose tissue-derived stem cells alleviate osteoporosis through osteoprotegerin and miR-21-5p.
PMID: 34596354
J Extracell Vesicles · 2021
0.70
5
Recapitulating the adenoma-carcinoma sequence by selection of four spontaneous oncogenic mutations in mismatch-repair-deficient human colon organoids.
PMID: 39487295
Nat Cancer · 2024
0.60