Human Gene ACVR2B (ENST00000352511.5) from GENCODE V44
  Description: Homo sapiens activin A receptor type 2B (ACVR2B), mRNA. (from RefSeq NM_001106)
RefSeq Summary (NM_001106): Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000352511.5
Gencode Gene: ENSG00000114739.14
Transcript (Including UTRs)
   Position: hg38 chr3:38,453,890-38,493,142 Size: 39,253 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr3:38,454,323-38,483,332 Size: 29,010 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 (chr3:38,453,890-38,493,142)mRNA (may differ from genome)Protein (512 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Activin receptor type-2B; EC=; AltName: Full=Activin receptor type IIB; Short=ACTR-IIB; Flags: Precursor;
FUNCTION: Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.
CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
COFACTOR: Magnesium or manganese (By similarity).
SUBUNIT: Forms an activin receptor complex with activin type II receptors such as ACVR1B. Interacts with VPS39.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity).
PTM: Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity.
DISEASE: Defects in ACVR2B are the cause of visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy type 4 include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro-transposed great arteries, pulmonary stenosis, polysplenia and midline liver.
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=GeneReviews; URL="";

-  Primer design for this transcript

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-  MalaCards Disease Associations
  MalaCards Gene Search: ACVR2B
Diseases sorted by gene-association score: heterotaxy, visceral, 4, autosomal* (1230), acvr2b-related visceral heterotaxy* (500), right aortic arch (19), visceral heterotaxy* (19), left-right axis malformations (13), heterotaxy (13), dextrocardia (11), epididymo-orchitis (6), multiple synostoses syndrome (5)
* = 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: 4.21 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 67.25 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -239.60433-0.553 Picture PostScript Text
3' UTR -2922.109810-0.298 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
2H62 - X-ray MuPIT 2QLU - X-ray 4FAO - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q13705
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 BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  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:0004712 protein serine/threonine/tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019838 growth factor binding
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0016362 activin receptor activity, type II

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001702 gastrulation with mouth forming second
GO:0001822 kidney development
GO:0001946 lymphangiogenesis
GO:0001974 blood vessel remodeling
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007368 determination of left/right symmetry
GO:0007389 pattern specification process
GO:0007498 mesoderm development
GO:0007507 heart development
GO:0009749 response to glucose
GO:0009791 post-embryonic development
GO:0009952 anterior/posterior pattern specification
GO:0009966 regulation of signal transduction
GO:0016310 phosphorylation
GO:0030073 insulin secretion
GO:0030324 lung development
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0031016 pancreas development
GO:0032147 activation of protein kinase activity
GO:0032924 activin receptor signaling pathway
GO:0032927 positive regulation of activin receptor signaling pathway
GO:0035265 organ growth
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045669 positive regulation of osteoblast differentiation
GO:0048617 embryonic foregut morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0060021 palate development
GO:0060836 lymphatic endothelial cell differentiation
GO:0060840 artery development
GO:0060841 venous blood vessel development
GO:0061298 retina vasculature development in camera-type eye

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex
GO:0043235 receptor complex

-  Descriptions from all associated GenBank mRNAs
  BC096243 - Homo sapiens activin A receptor, type IIB, mRNA (cDNA clone MGC:116906 IMAGE:40005760), complete cds.
BC096244 - Homo sapiens activin A receptor, type IIB, mRNA (cDNA clone MGC:116907 IMAGE:40005761), complete cds.
BC096245 - Homo sapiens activin A receptor, type IIB, mRNA (cDNA clone MGC:116909 IMAGE:40005763), complete cds.
BC099642 - Homo sapiens activin A receptor, type IIB, mRNA (cDNA clone MGC:116908 IMAGE:40005762), complete cds.
X77533 - H.sapiens mRNA for activin type II receptor.
KJ896375 - Synthetic construct Homo sapiens clone ccsbBroadEn_05769 ACVR2B gene, encodes complete protein.
KJ896376 - Synthetic construct Homo sapiens clone ccsbBroadEn_05770 ACVR2B gene, encodes complete protein.
KR711953 - Synthetic construct Homo sapiens clone CCSBHm_00032896 ACVR2B (ACVR2B) mRNA, encodes complete protein.
KR711954 - Synthetic construct Homo sapiens clone CCSBHm_00032897 ACVR2B (ACVR2B) mRNA, encodes complete protein.
AB209449 - Homo sapiens mRNA for activin A type IIB receptor precursor variant protein.
AF075005 - Homo sapiens full length insert cDNA YH98E06.
JD410270 - Sequence 391294 from Patent EP1572962.

-  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 Q13705 (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-1225894 Type II Activin Receptor (ActRIIB/ACVR2B) phosphorylates Type I Activin Receptor (ActRIC/ACVR1C) 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-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-1181355 Phosphorylation of R-SMAD2/3 by NODAL receptor
R-HSA-1549526 Phosphorylation of SMAD2/3 by Activin:Activin Receptor
R-HSA-1502540 Signaling by Activin
R-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL
R-HSA-201451 Signaling by BMP
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AVR2B_HUMAN, ENST00000352511.1, ENST00000352511.2, ENST00000352511.3, ENST00000352511.4, NM_001106, Q13705, Q4VAV0, uc003cif.1, uc003cif.2, uc003cif.3, uc003cif.4, uc003cif.5
UCSC ID: ENST00000352511.5
RefSeq Accession: NM_001106
Protein: Q13705 (aka AVR2B_HUMAN or AVRB_HUMAN)
CCDS: CCDS2679.1

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