Property Summary

NCBI Gene PubMed Count 93
PubMed Score 96.59
PubTator Score 76.03

Knowledge Summary

Patent (21,545)

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -1.400 1.7e-02
glioblastoma -1.700 1.9e-04
osteosarcoma -2.825 2.8e-05
ependymoma -1.200 2.6e-04
atypical teratoid / rhabdoid tumor -2.200 3.6e-04
interstitial cystitis -1.300 4.4e-04
adult high grade glioma -1.600 1.3e-04
pilocytic astrocytoma -1.100 7.1e-05
breast carcinoma -1.100 4.7e-18
Breast cancer -1.300 5.4e-13
invasive ductal carcinoma -1.700 1.2e-03
acute myeloid leukemia -2.100 2.7e-02
ulcerative colitis -1.500 6.1e-07
ovarian cancer 1.800 6.9e-04

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (38)

PMID Text
26677222 Data suggest ALK1 and ACVR2A/ACVR2B, acting as BMP9 co-receptors, rearrange pro-domains of BMP9--pro-domain dimer complex leading to displacement of pro-domains after receptor binding, release of mature non-dimer BPM9, and activation of signaling.
26086422 Adenomyotic tissues express high levels of myostatin, follistatin, and activin type II receptors.
26047946 Activin A inhibited signaling by BMP-6 and BMP-9 by competing for type 2 receptors ACVR2A and ACVR2B.
25659497 Data suggest that an SNP in promoter region of ACVR2A (rs1424954, the pre-eclampsia susceptibility allele) down-regulates 1) expression of ACVR2A in trophoblasts and 2) signal transduction in response to excess activin-A (as seen in pre-eclampsia).
25499008 The gene ACVR2A was associated with the more severe early onset preeclampsia.
23633461 For ACVR2A SNPs (rs10497025, rs1128919, rs13430086), no statistically significant difference was found between preeclampsia and control groups in terms of genotype and allele frequencies.
23263486 ACVR2A was identified as a subnetwork component in functional association network analysis.
22949641 ACVR2A interaction with Nodal and ADMP regulates head development from the 'organizer', a restricted group of cells in the embryo.
22848350 ACVR2A showed statistically significant differential dose-expression relationship.
22723898 This is the first report on the function of miR-195 in human placental trophoblast cells which reveals an invasion-promoting effect of the small RNA via repressing ActRIIA.
22296042 Activin type IIA receptors are clearly demonstrable throughout the adult human hypothalamus and basal forebrain.
22001236 Exonic selectivity for frameshift mutation within ACVR2 is specifically controlled by individual nucleotides flanking each coding ACVR2 microsatellite.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20200332 Observational study of gene-disease association. (HuGE Navigator)
20197483 Mutation in activin type II receptor is associated with colorectal cancer.
20011542 Of 51 microsatellite stable colon tumors, 7 (14%) lost ACVR2, 2 (4%) ACVR1, and 5 (10%) pSMAD2 expression.
19574343 Observational study of gene-disease association. (HuGE Navigator)
19503063 The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%).
19308291 ActRII signaling is required for prostatic cancer cell and neuroblastoma cell viability, with ActRII mediating cell fate via the regulation of cell adhesion
19126782 It remains unclear what role, if any, ACVR2A polymorphisms play in pre-eclampsia risk, at least in these Australian families.
19126782 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18941508 The -1 bp frameshift mutation rates of TGFBR2 and ACVR2 microsatellite sequences are dependent upon the human DNA Mismatch
18781190 Populations with different ancestors (Iceland/Norway-Australia/New Zealand) demonstrate a common maternal pre-eclampsia susceptibility locus on chromosome 2q22-23, may suggests a general role of this locus, and possibly the ACVR2A gene, in pre-eclampsia.
18001154 Inhibin/activin BA subunit, follistatin, and activin receptor proteins and mRNAs are present in the human fetal palate.
17472960 RGMa facilitates the use of ActRIIA by endogenous BMP2 and BMP4 ligands that otherwise prefer signaling via BMPRII and that increased utilization of ActRIIA leads to generation of an enhanced BMP signal
17258738 Activin is growth suppressive and enhances migration in colon cancer.
16672363 structure of the ternary complex representing the signaling competent complex of BMP-2 bound to the entire extracellular domains of both its type I receptor, BMPR-Ia, & its type II receptor, ActRII, at a resolution of 2.2 angstroms
16380996 Observational study of gene-disease association. (HuGE Navigator)
16337854 demonstrates that truncating mutations of the ACVR2 gene result in a significant reduction in activin mediated cell signaling. Inactivation of ACVR2 is a common event in prostate cancer and may play an important role in the development of prostate cancer
14988818 Mutations highly frequent in microsatellite unstable(MSI-H) colon cancers and cause loss of ACVR2, indicating biallelic gene nactivation. Loss of activin signaling through mutation of ACVR2 may have role in genesis of MSI-H colorectal cancer.
14738881 Data indicate that activin A and activin receptors IIA and IIB may be involved in the regulation of germ cell proliferation in the human ovary during the period leading up to primordial follicle formation.
14691305 Activin type II receptor gene (ACTRII) is probably involved in both non-microsattelite unstable and microsattelite-unstable colorectal carcinogenesis, but more frequently in the latter subgroup.
12667445 crystal structure of BMP7 in complex with the extracellular domain (ECD) of the activin type II receptor
11969340 distribution in gestational tissues across human pregnancy and during labour

AA Sequence

MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGS      1 - 70
IEIVKQGCWLDDINCYDRTDCVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNIL     71 - 140
LYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPLLGLKPLQLLEVKARGRFGCVWKAQ    141 - 210
LLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLSDFLK    211 - 280
ANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAG    281 - 350
KSAGDTHGQVGTRRYMAPEVLEGAINFQRDAFLRIDMYAMGLVLWELASRCTAADGPVDEYMLPFEEEIG    351 - 420
QHPSLEDMQEVVVHKKKRPVLRDYWQKHAGMAMLCETIEECWDHDAEARLSAGCVGERITQMQRLTNIIT    421 - 490
TEDIVTVVTMVTNVDFPPKESSL                                                   491 - 513
//

Text Mined References (96)

PMID Year Title
26677222 2016 Rapid Activation of Bone Morphogenic Protein 9 by Receptor-mediated Displacement of Pro-domains.
26086422 2015 Myostatin, follistatin and activin type II receptors are highly expressed in adenomyosis.
26047946 2015 Activin A inhibits BMP-signaling by binding ACVR2A and ACVR2B.
25659497 2015 ACVR2A promoter polymorphism rs1424954 in the Activin-A signaling pathway in trophoblasts.
25499008 2015 Association between ACVR2A and early-onset preeclampsia: replication study in a Northeastern Brazilian population.
23633461 2013 Polymorphisms in the activin A receptor type 2A gene affect the onset time and severity of preeclampsia in the Turkish population.
23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
22949641 2012 Self-regulation of the head-inducing properties of the Spemann organizer.
22848350 2012 Iodine-131 dose dependent gene expression in thyroid cancers and corresponding normal tissues following the Chernobyl accident.
22723898 2012 Downregulated miR-195 detected in preeclamptic placenta affects trophoblast cell invasion via modulating ActRIIA expression.
22528352 2012 Characterization and gene expression profiling of five human embryonic stem cell lines derived in Taiwan.
22296042 2012 Expression of inhibin/activin proteins and receptors in the human hypothalamus and basal forebrain.
22085900 2012 Severe intellectual disability and autistic features associated with microduplication 2q23.1.
22001236 2012 Flanking nucleotide specificity for DNA mismatch repair-deficient frameshifts within activin receptor 2 (ACVR2).
21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
21490791 2011 STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation.
21378277 2011 Alantolactone inhibits cell proliferation by interrupting the interaction between Cripto-1 and activin receptor type II A in activin signaling pathway.
21353880 2011 The synthesis and secretion of inhibins.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
20886391 2010 Sotatercept, a soluble activin receptor type 2A IgG-Fc fusion protein for the treatment of anemia and bone loss.
20801928 2010 Identification and analysis of type II TGF-? receptors in BMP-9-induced osteogenic differentiation of C3H10T1/2 mesenchymal stem cells.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
20200332 2010 Family-based analysis of candidate genes for polycystic ovary syndrome.
20197483 2010 Mesalazine reduces mutations in transforming growth factor beta receptor II and activin type II receptor by improvement of replication fidelity in mononucleotide repeats.
20011542 2009 Activin signaling in microsatellite stable colon cancers is disrupted by a combination of genetic and epigenetic mechanisms.
19574343 2009 Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
19503063 2009 Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
19386982 2009 Activin A, activin receptor type II, nodal, and cripto mRNA are expressed by eutopic and ectopic endometrium in women with ovarian endometriosis.
19366699 2009 Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells.
19308291 2009 Activin receptor signaling regulates prostatic epithelial cell adhesion and viability.
19126782 2009 Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
18941508 2008 Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair.
18781190 2009 Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).
18436533 2008 BMP-2/4 and BMP-6/7 differentially utilize cell surface receptors to induce osteoblastic differentiation of human bone marrow-derived mesenchymal stem cells.
18326817 2008 Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin.
18001154 Activin subunit and receptor expression in normal and cleft human fetal palate tissues.
17472960 2007 Repulsive guidance molecule RGMa alters utilization of bone morphogenetic protein (BMP) type II receptors by BMP2 and BMP4.
17456004 2007 Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors.
17356069 2007 Endofin acts as a Smad anchor for receptor activation in BMP signaling.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17258738 2007 Activin type 2 receptor restoration in MSI-H colon cancer suppresses growth and enhances migration with activin.
16672363 2006 Structure of the ternary signaling complex of a TGF-beta superfamily member.
16461635 2006 Decoding the fine-scale structure of a breast cancer genome and transcriptome.
16380996 2006 Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16337854 2005 Truncating mutations in the ACVR2 gene attenuates activin signaling in prostate cancer cells.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15621726 2004 Bone morphogenetic proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15451561 2004 Novel factors in regulation of activin signaling.
14988818 2004 Loss of activin receptor type 2 protein expression in microsatellite unstable colon cancers.
14738881 2004 Expression of activin subunits and receptors in the developing human ovary: activin A promotes germ cell survival and proliferation before primordial follicle formation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14691305 2003 Loss of heterozygosity and mutational analyses of the ACTRII gene locus in human colorectal tumors.
12667445 2003 The BMP7/ActRII extracellular domain complex provides new insights into the cooperative nature of receptor assembly.
12665502 2003 Identification of a functional binding site for activin on the type I receptor ALK4.
12651901 2003 Inhibin, activin, follistatin, activin receptors and beta-glycan gene expression in the placental tissue of patients with pre-eclampsia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12385827 2002 Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors.
12213882 2002 Expression of activin/inhibin receptor and binding protein genes and regulation of activin/inhibin peptide secretion in human adrenocortical cells.
12135884 2002 Bone morphogenetic protein receptor type II is a receptor for growth differentiation factor-9.
12032389 2002 The physiology and pathophysiology of inhibin, activin and follistatin in female reproduction.
11969340 2002 The distribution of activin and activin receptors in gestational tissues across human pregnancy and during labour.
11882656 2002 Regulation of endocytosis of activin type II receptors by a novel PDZ protein through Ral/Ral-binding protein 1-dependent pathway.
11266516 2001 Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP).
11069203 2000 Activin A and activin receptors in the human thyroid: a link to the female predominance of goiter?
10746731 2000 Betaglycan binds inhibin and can mediate functional antagonism of activin signalling.
10702675 1999 Assignment of ACVR2 and ACVR2B the human activin receptor type II and IIB genes to chromosome bands 2q22.2-->q23.3 and 3p22 and the human follistatin gene (FST) to chromosome 5q11.2 by FISH.
10681527 2000 Identification and characterization of a PDZ protein that interacts with activin type II receptors.
10638976 2000 Variations in activin receptor, inhibin/activin subunit and follistatin mRNAs in human prostate tumour tissues.
10504300 1999 Characterization of bone morphogenetic protein-6 signaling pathways in osteoblast differentiation.
10323406 1999 Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors.
10187774 1999 Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
9872992 1999 Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily.
9748228 1998 Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2.
9032295 1997 Activin and inhibin have antagonistic effects on ligand-dependent heteromerization of the type I and type II activin receptors and human erythroid differentiation.
8971337 1996 Activin receptors: cellular signalling by receptor serine kinases.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8721982 1996 Formation and activation by phosphorylation of activin receptor complexes.
8702914 1996 Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5.
8640777 1996 Inhibitory effects of activin on the growth and morpholgenesis of primary and transformed mammary epithelial cells.
8622651 1996 Activation of signalling by the activin receptor complex.
8612709 1996 Truncated activin type II receptors inhibit bioactivity by the formation of heteromeric complexes with activin type I. receptors.
8358434 1993 3,400 new expressed sequence tags identify diversity of transcripts in human brain.
8243335 1993 Expression of the type II activin receptor gene in the human placenta.
8242742 1993 Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.
7890768 1995 Inhibin antagonizes inhibition of liver cell growth by activin by a dominant-negative mechanism.
1646080 1991 Expression cloning of an activin receptor, a predicted transmembrane serine kinase.
1314589 1992 Molecular cloning and binding properties of the human type II activin receptor.
1311955 1992 Cloning of the human activin receptor cDNA reveals high evolutionary conservation.