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 |
|---|---|---|---|---|---|
OMIM IDMIM:102581 Ensembl IDEnsembl:ENSG00000121989 HGNC IDHGNC:HGNC:173 PHARMGKB IDPA24494 Map Location2q22.3-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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACVR2A
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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