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Gene Review

Acvr2b  -  activin receptor IIB

Mus musculus

Synonyms: ACTR-IIB, ActRIIB, Activin receptor type IIB, Activin receptor type-2B
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Disease relevance of Acvr2b


High impact information on Acvr2b

  • In this study we show that disruption of the type IIB activin receptor (ActRIIB) by gene targeting results in altered expression of multiple Hox genes and abnormal patterning of the vertebrae, similar to but severer than retinoic acid (RA)-induced anterior transformation [4].
  • We further show that RA and ActRIIB mutation have synergistic effects on vertebral patterning [4].
  • None of the left-right patterning abnormalities and organogenesis defects identified in mice carrying mutations in Nodal or in genes encoding ActRIIA and ActRIIB coreceptors, including heart malformations, pulmonary isomerism, right-sided gut, and spleen hypoplasia, were observed in mice lacking ALK7 [5].
  • Activin receptor type IIb (ActRIIb) was previously suggested as the only type II membrane receptor triggering myostatin signaling [6].
  • From 6.5- to 9.5-days post coitum (p.c.) activin beta A and beta B subunit expression was restricted to the decidua, while activin receptor type IIB messages were exclusively detected in the embryo [7].

Biological context of Acvr2b

  • Mouse Acvr2b gene generates four transcriptional isoforms (Acvr2b(1-4)) via alternative splicing of two sequence domains located at the juxtaposition of the transmembrane domain [8].
  • To investigate whether these splicing domains are essential for signal transduction of the Acvr2b receptor in vivo, we have generated a strain of mutant mice (Acvr2b(4/4)) which produce only the Acvr2b(4) isoform, which lacks both splicing domains [8].
  • In the absence of its subfamily receptor Acvr2a, however, the development of Acvr2b(4/4) mice was arrested at the gastrulation stage, recapitulating the Acvr2a(-/-); Acvr2b(+/-) mutant phenotype [8].
  • We show here that the penetrance and severity of the right isomerism is significantly elevated in nodal(+/-); ActRIIB(-/-) mice, compared with ActRIIB(-/-) mice [1].
  • Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) results in abnormal left-right (LR) axis development among Acvr2b-/- homozygotes [Oh and Li, 1997: Genes Dev 11:1812-1826] [9].

Anatomical context of Acvr2b


Associations of Acvr2b with chemical compounds


Other interactions of Acvr2b

  • RESULTS.: Transgenic mdx mice carrying the dnActRIIB gene have bigger muscles than mdx mice with the normal gene of ActRIIB [17].
  • Follistatin message was observed in all tissues (except the heart and vessels) localizing beta A-subunit and/or ActRIIB but not in the same cell type [2].

Analytical, diagnostic and therapeutic context of Acvr2b


  1. Gene-dosage-sensitive genetic interactions between inversus viscerum (iv), nodal, and activin type IIB receptor (ActRIIB) genes in asymmetrical patterning of the visceral organs along the left-right axis. Oh, S.P., Li, E. Dev. Dyn. (2002) [Pubmed]
  2. Expression of messenger ribonucleic acids encoding the inhibin/activin system during mid- and late-gestation rat embryogenesis. Roberts, V.J., Barth, S.L. Endocrinology (1994) [Pubmed]
  3. Retinoic acid induces activin receptor IIB mRNA in F9 embryonal carcinoma cells. Wan, Y.J., Wang, L., Wu, T.C. J. Mol. Endocrinol. (1995) [Pubmed]
  4. The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Oh, S.P., Li, E. Genes Dev. (1997) [Pubmed]
  5. ALK7, a receptor for nodal, is dispensable for embryogenesis and left-right patterning in the mouse. Jörnvall, H., Reissmann, E., Andersson, O., Mehrkash, M., Ibáñez, C.F. Mol. Cell. Biol. (2004) [Pubmed]
  6. Extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase pathway is involved in myostatin-regulated differentiation repression. Yang, W., Chen, Y., Zhang, Y., Wang, X., Yang, N., Zhu, D. Cancer Res. (2006) [Pubmed]
  7. Expression of activin subunits, activin receptors and follistatin in postimplantation mouse embryos suggests specific developmental functions for different activins. Feijen, A., Goumans, M.J., van den Eijnden-van Raaij, A.J. Development (1994) [Pubmed]
  8. Generation of activin receptor type IIB isoform-specific hypomorphic alleles. Lee, Y.J., Hong, K.H., Yun, J., Oh, S.P. Genesis (2006) [Pubmed]
  9. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Kosaki, R., Gebbia, M., Kosaki, K., Lewin, M., Bowers, P., Towbin, J.A., Casey, B. Am. J. Med. Genet. (1999) [Pubmed]
  10. mRNAs for activin receptors II and IIB are expressed in mouse oocytes and in the epiblast of pregastrula and gastrula stage mouse embryos. Manova, K., De Leon, V., Angeles, M., Kalantry, S., Giarré, M., Attisano, L., Wrana, J., Bachvarova, R.F. Mech. Dev. (1995) [Pubmed]
  11. Developmental expression of activin/inhibin beta A, beta B, and alpha subunits, and activin receptor-IIB genes in preimplantation mouse embryos. Lu, R.Z., Matsuyama, S., Nishihara, M., Takahashi, M. Biol. Reprod. (1993) [Pubmed]
  12. Regulatory role of BMP2 and BMP7 in spermatogonia and Sertoli cell proliferation in the immature mouse. Puglisi, R., Montanari, M., Chiarella, P., Stefanini, M., Boitani, C. Eur. J. Endocrinol. (2004) [Pubmed]
  13. The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice. Song, J., Oh, S.P., Schrewe, H., Nomura, M., Lei, H., Okano, M., Gridley, T., Li, E. Dev. Biol. (1999) [Pubmed]
  14. Expression of type II activin receptor genes in the male and female reproductive tissues of the rat. Feng, Z.M., Madigan, M.B., Chen, C.L. Endocrinology (1993) [Pubmed]
  15. Identification of a binding site on the type II activin receptor for activin and inhibin. Gray, P.C., Greenwald, J., Blount, A.L., Kunitake, K.S., Donaldson, C.J., Choe, S., Vale, W. J. Biol. Chem. (2000) [Pubmed]
  16. BMP7/ActRIIB regulates estrogen-dependent apoptosis: new biomarkers for environmental estrogens. Kusumegi, T., Tanaka, J., Kawano, M., Yonemoto, J., Tohyama, C., Sone, H. J. Biochem. Mol. Toxicol. (2004) [Pubmed]
  17. Improved success of myoblast transplantation in mdx mice by blocking the myostatin signal. Benabdallah, B.F., Bouchentouf, M., Tremblay, J.P. Transplantation (2005) [Pubmed]
  18. Male reproductive phenotypes in double mutant mice lacking both FSHbeta and activin receptor IIA. Kumar, T.R., Varani, S., Wreford, N.G., Telfer, N.M., de Kretser, D.M., Matzuk, M.M. Endocrinology (2001) [Pubmed]
  19. Hybridization histochemical localization of activin receptor subtypes in rat brain, pituitary, ovary, and testis. Cameron, V.A., Nishimura, E., Mathews, L.S., Lewis, K.A., Sawchenko, P.E., Vale, W.W. Endocrinology (1994) [Pubmed]
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