ACVR2A
Summary: This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| activin A receptor type 2A | MIM:102581 | Ensembl:ENSG00000121989 | HGNC:HGNC:173 | PA24494 | 2q22.3-q23.1 |
GO terms in ACVR2A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0009986 | cell surface |
| CC | IDA | GO:0034673 | inhibin-betaglycan-ActRII complex |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IPI | GO:0043235 | receptor complex |
| CC | IBA | GO:0048179 | activin receptor complex |
| BP | IEA | GO:0001702 | gastrulation with mouth forming second |
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | TAS | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0007368 | determination of left/right symmetry |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IEA | GO:0007498 | mesoderm development |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IMP | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IMP | GO:0030501 | positive regulation of bone mineralization |
| BP | IDA | GO:0030509 | BMP signaling pathway |
| BP | IMP | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:0030510 | regulation of BMP signaling pathway |
| BP | IBA | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0032924 | activin receptor signaling pathway |
| BP | IDA | GO:0032927 | positive regulation of activin receptor signaling pathway |
| BP | IEA | GO:0042713 | sperm ejaculation |
| BP | IEA | GO:0043084 | penile erection |
| BP | IDA | GO:0045648 | positive regulation of erythrocyte differentiation |
| BP | IMP | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048706 | embryonic skeletal system development |
| BP | IEA | GO:0050999 | regulation of nitric-oxide synthase activity |
| BP | IEA | GO:0060011 | Sertoli cell proliferation |
| BP | IMP | GO:0071773 | cellular response to BMP stimulus |
| MF | EXP | GO:0004674 | protein serine/threonine kinase activity |
| MF | TAS | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IDA | GO:0015026 | coreceptor activity |
| MF | IDA | GO:0017002 | activin-activated receptor activity |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IEA | GO:0019838 | growth factor binding |
| MF | IEA | GO:0030165 | PDZ domain binding |
| MF | IEA | GO:0034711 | inhibin binding |
| MF | IBA | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | IEA | GO:0043621 | protein self-association |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0048185 | activin binding |
| MF | IPI | GO:0048185 | activin binding |
| MF | ISS | GO:0098821 | BMP receptor activity |
Gene expression in normal tissue: ACVR2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACVR2A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| pid | alk1pathway | ALK1 signaling events |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| reactome | R-HSA-1181150 | Signaling by NODAL |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1433617 | Regulation of signaling by NODAL |
| reactome | R-HSA-1502540 | Signaling by Activin |
| reactome | R-HSA-1502540 | Signaling by Activin |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD160 | Cis-Platin | 1 |
| iGMDRD42 | Vorinostat | 1 |
| iGMDRD245 | FH535 | 1 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD213 | SMR000068650 | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD137 | Indisulam | 4 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD397 | Pazopanib | 1 |
| iGMDRD779 | PRL-3 Inhibitor I | 2 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD313 | Axitinib | 1 |
| iGMDRD268 | Cerulenin | 2 |
| iGMDRD598 | QS-11 | 3 |
| iGMDRD524 | ISX-9 | 2 |
| iGMDRD602 | Foretinib | 1 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD562 | Navitoclax | 4 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD74 | Idarubicin | 1 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD270 | Ciclosporin | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACVR2A
CLASSFICATION
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