Gene
acvr2ab
- ID
- ZDB-GENE-120215-23
- Name
- activin A receptor type 2Ab
- Symbol
- acvr2ab Nomenclature History
- Previous Names
-
- si:dkey-264o13.1
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable activin binding activity and activin receptor activity. Predicted to be involved in activin receptor signaling pathway; cellular response to growth factor stimulus; and pattern specification process. Predicted to act upstream of or within cell surface receptor protein serine/threonine kinase signaling pathway and protein phosphorylation. Predicted to be located in membrane. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in Lynch syndrome and colon cancer. Orthologous to human ACVR2A (activin A receptor type 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Preiß et al., 2022
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-acvr2ab | (2) | |
| CRISPR2-acvr2ab | (2) | |
| CRISPR3-acvr2ab | Preiß et al., 2022 | |
| CRISPR4-acvr2ab | Preiß et al., 2022 | |
| CRISPR5-acvr2ab | Preiß et al., 2022 | |
| MO1-acvr2ab | N/A | (4) |
| MO2-acvr2ab | N/A | Preiß et al., 2022 |
| MO3-acvr2ab | N/A | Preiß et al., 2022 |
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Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Domain | IPR000719 | Protein kinase domain |
| Family | IPR000333 | Ser/Thr protein kinase, TGFB receptor |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR045860 | Snake toxin-like superfamily |
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Domain Details Per Protein
| Protein | Length | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BGK0
|
438 | |||||
|
UniProtKB:A0A0R4ISZ9
|
439 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
acvr2ab-201
(1)
|
Ensembl | 1,481 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-264O13 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005168700 (1) | |||
| Genomic | GenBank:CU570699 (1) | 85234 nt | ||
| Polypeptide | UniProtKB:A0A0R4ISZ9 (1) | 439 aa |
- Lalonde, R.L., Nicolas, H.A., Cutler, R.S., Pantekidis, I., Zhang, W., Yelick, P.C. (2023) Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(5):605-628
- Preiß, H., Kögler, A.C., Mörsdorf, D., Čapek, D., Soh, G.H., Rogers, K.W., Morales-Navarrete, H., Almuedo-Castillo, M., Müller, P. (2022) Regulation of Nodal signaling propagation by receptor interactions and positive feedback. eLIFE. 11:
- Tang, L., Li, J., Sun, B., Bai, Y., Zhou, X., Chen, L. (2022) Transcriptomic Interaction between Young Fecal Transplantation and Perfluorobutanesulfonate in Aged Zebrafish Gonads. Toxics. 10(11):
- Wentworth, K.L., Lalonde, R.L., Groppe, J.C., Brewer, N., Moody, T., Hansberry, S., Taylor, K., Shore, E.M., Kaplan, F.S., Pignolo, R.J., Yelick, P.C., Hsiao, E.C. (2022) Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed-onset fibrodysplasia ossificans progressiva (FOP) using ACVR1R206H -specific human cellular and zebrafish models. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(11):2058-2076
- Zhang, Z., Wu, K., Ren, Z., Ge, W. (2020) Genetic evidence for Amh modulation of gonadotropin actions to control gonadal homeostasis and gametogenesis in zebrafish and its noncanonical signalling through Bmpr2a receptor. Development (Cambridge, England). 147(22):
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- Dogra, D., Ahuja, S., Kim, H.T., Rasouli, S.J., Stainier, D.Y.R., Reischauer, S. (2017) Opposite effects of Activin type 2 receptor ligands on cardiomyocyte proliferation during development and repair. Nature communications. 8:1902
- Ear, J., Huang, H., Wilson, T., Tehrani, Z., Lindgren, A., Sung, V., Laadem, A., Daniel, T.O., Chopra, R., Lin, S. (2015) RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. Blood. 126(7):880-90
- Desvignes, T., Contreras, A., Postlethwait, J.H. (2014) Evolution of the miR199-214 cluster and vertebrate skeletal development. RNA Biology. 11(4):281-94
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