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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:147,845,029-147,930,822)mRNA (may differ from genome)Protein (513 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACVR2A
Diseases sorted by gene-association score: mbd5 haploinsufficiency* (231), multiple synostoses syndrome (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.86 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 107.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.80124-0.297 Picture PostScript Text
3' UTR -797.703548-0.225 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000333 - Activin_II/TGFBeta-II_recpt
IPR015768 - Activin_II_recpt
IPR000472 - Activin_rcpt
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF01064 - Activin types I and II receptor domain
PF00069 - Protein kinase domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3Q4T - X-ray MuPIT 3SOC - X-ray MuPIT 4ASX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P27037
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015026 coreceptor activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019838 growth factor binding
GO:0030165 PDZ domain binding
GO:0034711 inhibin binding
GO:0043621 protein self-association
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0098821 BMP receptor activity
GO:0017002 activin-activated receptor activity

Biological Process:
GO:0001702 gastrulation with mouth forming second
GO:0001934 positive regulation of protein phosphorylation
GO:0006468 protein phosphorylation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007283 spermatogenesis
GO:0007368 determination of left/right symmetry
GO:0007498 mesoderm development
GO:0008584 male gonad development
GO:0009952 anterior/posterior pattern specification
GO:0009966 regulation of signal transduction
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016310 phosphorylation
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030510 regulation of BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0032927 positive regulation of activin receptor signaling pathway
GO:0042713 sperm ejaculation
GO:0043084 penile erection
GO:0045648 positive regulation of erythrocyte differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048706 embryonic skeletal system development
GO:0050999 regulation of nitric-oxide synthase activity
GO:0060011 Sertoli cell proliferation
GO:0071773 cellular response to BMP stimulus

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034673 inhibin-betaglycan-ActRII complex
GO:0043235 receptor complex


-  Descriptions from all associated GenBank mRNAs
  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

-  Other Names for This Gene
  Alternate Gene Symbols: ACVR2, AVR2A_HUMAN, B2RAB8, D3DP85, ENST00000241416.1, ENST00000241416.10, ENST00000241416.11, ENST00000241416.2, ENST00000241416.3, ENST00000241416.4, ENST00000241416.5, ENST00000241416.6, ENST00000241416.7, ENST00000241416.8, ENST00000241416.9, NM_001616, P27037, Q53TH4, Q6NWV2, Q92474, uc002twh.1, uc002twh.2, uc002twh.3, uc002twh.4, uc002twh.5, uc002twh.6
UCSC ID: ENST00000241416.12
RefSeq Accession: NM_001616
Protein: P27037 (aka AVR2A_HUMAN)
CCDS: CCDS33301.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.