Human Gene ACVR2A (ENST00000241416.12) from GENCODE V44
Description: Homo sapiens activin A receptor type 2A (ACVR2A), transcript variant 2, mRNA. (from RefSeq NM_001616) RefSeq Summary (NM_001616): 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]. Gencode Transcript: ENST00000241416.12 Gencode Gene: ENSG00000121989.15 Transcript (Including UTRs) Position: hg38 chr2:147,845,029-147,930,822 Size: 85,794 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr2:147,845,153-147,927,274 Size: 82,122 Coding Exon Count: 11
ID:AVR2A_HUMAN DESCRIPTION: RecName: Full=Activin receptor type-2A; EC=2.7.11.30; AltName: Full=Activin receptor type IIA; Short=ACTR-IIA; Short=ACTRIIA; Flags: Precursor; FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. COFACTOR: Magnesium or manganese (By similarity). SUBUNIT: Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACVR2ID567ch2q22.html"; WEB RESOURCE: Name=CGP resequencing studies; URL="http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ACVR2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P27037
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF205689 - JP 2014500723-A/13192: Polycomb-Associated Non-Coding RNAs. MA441266 - JP 2018138019-A/13192: Polycomb-Associated Non-Coding RNAs. AK301629 - Homo sapiens cDNA FLJ51356 complete cds, highly similar to Activin receptor type 2A precursor (EC 2.7.11.30). M93415 - Human activin type II receptor mRNA, complete cds. AK314124 - Homo sapiens cDNA, FLJ94821, Homo sapiens activin A receptor, type II (ACVR2), mRNA. D31770 - Homo sapiens ActRIIA mRNA for activin typeII A receptor, complete cds. BC069707 - Homo sapiens activin A receptor, type IIA, mRNA (cDNA clone MGC:97294 IMAGE:7262543), complete cds. X62381 - H.sapiens mRNA for activin receptor. BC067416 - Homo sapiens cDNA clone IMAGE:7002203, containing frame-shift errors. BC067417 - Homo sapiens activin A receptor, type IIA, mRNA (cDNA clone MGC:79237 IMAGE:7002204), complete cds. BC067418 - Homo sapiens activin A receptor, type IIA, mRNA (cDNA clone MGC:79238 IMAGE:7002205), complete cds. X63128 - H.sapiens mRNA for activin receptor. CU688290 - Synthetic construct Homo sapiens gateway clone IMAGE:100022999 5' read ACVR2A mRNA. CU686984 - Synthetic construct Homo sapiens gateway clone IMAGE:100022640 5' read ACVR2A mRNA. AB529011 - Synthetic construct DNA, clone: pF1KE0967, Homo sapiens ACVR2A gene for activin A receptor, type IIA, without stop codon, in Flexi system. KJ896374 - Synthetic construct Homo sapiens clone ccsbBroadEn_05768 ACVR2A gene, encodes complete protein. KJ905133 - Synthetic construct Homo sapiens clone ccsbBroadEn_14529 ACVR2A gene, encodes complete protein. LF383693 - JP 2014500723-A/191196: Polycomb-Associated Non-Coding RNAs. MA619270 - JP 2018138019-A/191196: Polycomb-Associated Non-Coding RNAs. LF347114 - JP 2014500723-A/154617: Polycomb-Associated Non-Coding RNAs. MA582691 - JP 2018138019-A/154617: Polycomb-Associated Non-Coding RNAs. JD063204 - Sequence 44228 from Patent EP1572962. JD180358 - Sequence 161382 from Patent EP1572962. LF347121 - JP 2014500723-A/154624: Polycomb-Associated Non-Coding RNAs. MA582698 - JP 2018138019-A/154624: Polycomb-Associated Non-Coding RNAs. JD559302 - Sequence 540326 from Patent EP1572962. JD044264 - Sequence 25288 from Patent EP1572962. JD325547 - Sequence 306571 from Patent EP1572962. LF347122 - JP 2014500723-A/154625: Polycomb-Associated Non-Coding RNAs. MA582699 - JP 2018138019-A/154625: Polycomb-Associated Non-Coding RNAs. JD192483 - Sequence 173507 from Patent EP1572962. JD211945 - Sequence 192969 from Patent EP1572962. JD196879 - Sequence 177903 from Patent EP1572962. JD301312 - Sequence 282336 from Patent EP1572962. JD372297 - Sequence 353321 from Patent EP1572962. LF347123 - JP 2014500723-A/154626: Polycomb-Associated Non-Coding RNAs. MA582700 - JP 2018138019-A/154626: Polycomb-Associated Non-Coding RNAs. LF347124 - JP 2014500723-A/154627: Polycomb-Associated Non-Coding RNAs. MA582701 - JP 2018138019-A/154627: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04060 - Cytokine-cytokine receptor interaction hsa04350 - TGF-beta signaling pathway
Reactome (by CSHL, EBI, and GO)
Protein P27037 (Reactome details) participates in the following event(s):
R-HSA-1181153 Activin A/AB/B binds Activin Receptor ACVR2A/B:ACVR1B R-HSA-2470483 Activin AB/B binds Activin Receptor ACVR2A/B:ACVR1C R-HSA-202604 Formation of a heteromeric BMP receptor complex R-HSA-1181149 ACVR2A/B (ActRIIA/B) phosphorylates ACVR1B (ActRIB, ALK4) in response to Activin R-HSA-2470508 ACVR2A/B (ActRIIA/B) phosphorylates ACVR1C (ActRIC, ALK7) in response to Activin R-HSA-201475 I-Smad competes with R-Smad1/5/8 for type I receptor R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8 R-HSA-201821 I-Smad binds to type I receptor, preventing Smad1/5/8 from being activated R-HSA-201443 Type II receptor phosphorylates type I receptor R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly R-HSA-201457 BMP2 binds to the receptor complex R-HSA-1181156 Type II Activin Receptor (ActRII/ACVR2) phosphorylates Type I Activin Receptor (ActRIB/ACVR1B) in response to NODAL R-HSA-1181155 The NODAL Receptor binds NODAL ligands R-HSA-1181351 LEFTY binds the EGF-CFC coreceptor in the NODAL receptor R-HSA-1549526 Phosphorylation of SMAD2/3 by Activin:Activin Receptor R-HSA-1181355 Phosphorylation of R-SMAD2/3 by NODAL receptor R-HSA-1502540 Signaling by Activin R-HSA-201451 Signaling by BMP R-HSA-9006936 Signaling by TGF-beta family members R-HSA-1181150 Signaling by NODAL R-HSA-1433617 Regulation of signaling by NODAL R-HSA-162582 Signal Transduction R-HSA-1266738 Developmental Biology