Acvr2b activin receptor IIB [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acvr2bprovided by MGI
Official Full Name: activin receptor IIBprovided by MGI
Primary source: MGI:MGI:87912
See related: Ensembl:ENSMUSG00000061393 AllianceGenome:MGI:87912
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ActRIIB; AI047905; 4930516B21Rik
Summary: Enables activin binding activity; growth factor binding activity; and protein kinase activity. Involved in blood vessel remodeling; negative regulation of cold-induced thermogenesis; and vasculature development. Acts upstream of or within several processes, including animal organ development; embryonic morphogenesis; and insulin secretion. Predicted to be located in cytoplasm. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; egg cylinder; genitourinary system; nervous system; and sensory organ. Used to study right atrial isomerism and visceral heterotaxy. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human ACVR2B (activin A receptor type 2B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 12.1), whole brain E14.5 (RPKM 7.8) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9; 9 F3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (119231081..119271214)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (119401583..119442148)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Blockade of Activin Receptor IIB Protects Arthritis Pathogenesis by Non-Amplification of Activin A-ACVR2B-NOX4 Axis Pathway.
Title: Blockade of Activin Receptor IIB Protects Arthritis Pathogenesis by Non-Amplification of Activin A-ACVR2B-NOX4 Axis Pathway.
Murine FSH Production Depends on the Activin Type II Receptors ACVR2A and ACVR2B.
Title: Murine FSH Production Depends on the Activin Type II Receptors ACVR2A and ACVR2B.
Novel ActRIIB ligand trap increases muscle mass and improves bone geometry in a mouse model of severe osteogenesis imperfecta.
Title: Novel ActRIIB ligand trap increases muscle mass and improves bone geometry in a mouse model of severe osteogenesis imperfecta.
The current study reveals that ActRIIB activation by activin A induces muscle catabolism primarily through the activation of p38beta MAPK-mediated catabolic signalling that activates the ubiquitin-proteasome pathway and the autophagy-lysosome pathway.
Title: Activin A induces skeletal muscle catabolism via p38β mitogen-activated protein kinase.
The endoplasmic reticulum stress stress and unfolded protein response are increased in mdx muscle. However, these processes are not distinctly improved by voluntary exercise or blocking activin receptor IIB ligands and thus do not appear to be optimal therapeutic choices for improving proteostasis in Duchenne muscular dystrophy.
Title: Effects of muscular dystrophy, exercise and blocking activin receptor IIB ligands on the unfolded protein response and oxidative stress.
Data, including data from studies using transgenic mice, suggest that osteoblasts deficient in Acvr2A exhibit un-characteristic features; osteoclasts deficient in Acvr2A or Acvr2B or both appear normal. Acvr2A-deficient mice exhibit significantly increased femoral trabecular bone volume at 6 weeks of age; Acvr2B-deficient mice exhibit no significant change in any bone parameter.
Title: Activin receptor type 2A (ACVR2A) functions directly in osteoblasts as a negative regulator of bone mass.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1
Title: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
ActRIIB inhibition enhanced energy expenditure only at ambient temperature or in the cold, where nonshivering thermogenesis is minimal, suggesting that brown fat activation plays a prominent role in the metabolic actions of ActRIIB inhibition.
Title: Blockade of the activin receptor IIb activates functional brown adipogenesis and thermogenesis by inducing mitochondrial oxidative metabolism.
findings best fit a model in which BMP3, produced by mature bone cells, acts to reduce BMP signaling through Acvr2b in skeletal progenitor cells, limiting their differentiation to mature osteoblasts
Title: BMP3 suppresses osteoblast differentiation of bone marrow stromal cells via interaction with Acvr2b.
Functional redundancy in osteoblast differentiation is observed between bone morphogenetic protein receptor BMPR-II and ActR-IIB.
Title: Functional redundancy of type II BMP receptor and type IIB activin receptor in BMP2-induced osteoblast differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC202382P2 (e-PCR)
- UniSTS:271889

MARC_4816-4817:991938566:3 (e-PCR)
- UniSTS:231088

NoName (e-PCR)
- UniSTS:480734

Acvr2b (e-PCR), detects polymorphism
- UniSTS:141023

Acvr2b (e-PCR), detects polymorphism
- UniSTS:233953

Acvr2b (e-PCR), detects polymorphism
- UniSTS:496632

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables activin binding	IBA Inferred from Biological aspect of Ancestor more info
enables activin binding	IDA Inferred from Direct Assay more info	PubMed
enables activin binding	IPI Inferred from Physical Interaction more info	PubMed
enables activin binding	ISO Inferred from Sequence Orthology more info
enables activin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type II	ISO Inferred from Sequence Orthology more info
enables growth factor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables growth factor binding	ISO Inferred from Sequence Orthology more info
enables inhibin binding	ISO Inferred from Sequence Orthology more info
enables kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine/tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
NOT enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterior/posterior pattern specification	ISO Inferred from Sequence Orthology more info
involved_in artery development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of left/right symmetry	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic foregut morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation with mouth forming second	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphatic endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organ growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pancreas development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to glucose	IGI Inferred from Genetic Interaction more info	PubMed
involved_in retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in venous blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: activin receptor type-2B

Names: activin receptor type IIB

NP_001300686.1

EC 2.7.11.30

NP_031423.1

EC 2.7.11.30

XP_006511989.1

EC 2.7.11.30

XP_030099886.1

EC 2.7.11.30

XP_036010460.1

EC 2.7.11.30

XP_036010461.1

EC 2.7.11.30

XP_036010462.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313757.1 → NP_001300686.1 activin receptor type-2B isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC166052

Consensus CDS

CCDS90681.1

UniProtKB/Swiss-Prot

P27040

Related

ENSMUSP00000150566.2, ENSMUST00000215746.2

Conserved Domains (2) summary

cd14140
Location:194 → 484

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:41 → 110

Activin_recp; Activin types I and II receptor domain
NM_007397.3 → NP_031423.1 activin receptor type-2B precursor

See identical proteins and their annotated locations for NP_031423.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC166052

Consensus CDS

CCDS23615.1

UniProtKB/Swiss-Prot

P27040, Q3KQI1

Related

ENSMUSP00000126108.2, ENSMUST00000165044.3

Conserved Domains (3) summary

smart00220
Location:222 → 495

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14140
Location:218 → 508

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:39 → 117

Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

119231081..119271214

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511926.5 → XP_006511989.1 activin receptor type-2B isoform X4

UniProtKB/Swiss-Prot

P27040

Conserved Domains (2) summary

cd14140
Location:186 → 476

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:41 → 110

Activin_recp; Activin types I and II receptor domain
XM_030244026.2 → XP_030099886.1 activin receptor type-2B isoform X5

Conserved Domains (1) summary

cd14140
Location:36 → 326

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor
XM_036154567.1 → XP_036010460.1 activin receptor type-2B isoform X1

Conserved Domains (2) summary

cd14140
Location:239 → 529

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:62 → 131

Activin_recp; Activin types I and II receptor domain
XM_036154568.1 → XP_036010461.1 activin receptor type-2B isoform X2

Conserved Domains (2) summary

cd14140
Location:215 → 505

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:62 → 131

Activin_recp; Activin types I and II receptor domain
XM_036154569.1 → XP_036010462.1 activin receptor type-2B isoform X3

Conserved Domains (2) summary

cd14140
Location:207 → 497

STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor

pfam01064
Location:62 → 131

Activin_recp; Activin types I and II receptor domain