Acvr2a activin receptor IIA [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acvr2aprovided by MGI
Official Full Name: activin receptor IIAprovided by MGI
Primary source: MGI:MGI:102806
See related: Ensembl:ENSMUSG00000052155 AllianceGenome:MGI:102806
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: Acvr2; ActrIIa; TactrII
Summary: Enables several functions, including BMP receptor activity; PDZ domain binding activity; and activin binding activity. Acts upstream of or within several processes, including Sertoli cell proliferation; copulation; and embryonic skeletal system development. Located in cell surface. Is expressed in several structures, including central nervous system; early conceptus; gonad; gut; and sensory organ. Used to study Weissenbacher-Zweymuller syndrome. Human ortholog(s) of this gene implicated in colon cancer. Orthologous to human ACVR2A (activin A receptor type 2A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 16.6), whole brain E14.5 (RPKM 12.4) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.1; 2 28.38 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (48704121..48793276)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (48814109..48903264)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
Title: Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
The m(6)A methyltransferase METTL3 regulates muscle maintenance and growth in mice.
Title: The m(6)A methyltransferase METTL3 regulates muscle maintenance and growth in mice.
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.
Activation of ActRIIA signaling during early chronic kidney disease contributes to the CKD-MBD components of osteodystrophy and cardiovascular disease and to renal fibrosis.
Title: The activin receptor is stimulated in the skeleton, vasculature, heart, and kidney during chronic kidney disease.
blocking activin/ACVR2A impaired the potency of hepatic stellate cells to produce collagens in response to IL17s.
Title: Adenovirus‑mediated knockdown of activin A receptor type 2A attenuates immune‑induced hepatic fibrosis in mice and inhibits interleukin‑17‑induced activation of primary hepatic stellate cells.
Anti-ActRII blockade is an effective intervention against cancer cachexia providing benefit even in the presence of anti-cancer therapies.
Title: ActRII blockade protects mice from cancer cachexia and prolongs survival in the presence of anti-cancer treatments.
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.
miR-125b regulated the activin/Smad2 signaling in neonatal mouse ovary by directly targeting the 3'-untranslated region of activin receptor type 2a
Title: MiR-125b Regulates Primordial Follicle Assembly by Targeting Activin Receptor Type 2a in Neonatal Mouse Ovary.
Our study shows that a miR-590/Acvr2a/Rad51b signaling axis ensures the stabilization of mESCs by balancing DNA damage repair and rapid proliferation during self-renewal.
Title: A miR-590/Acvr2a/Rad51b axis regulates DNA damage repair during mESC proliferation.
Bmpr2 and Acvr2a normally play cell-type-specific, necessary roles in organelle biogenesis and the shutdown of developmental programs and cell division.
Title: A pair of transmembrane receptors essential for the retention and pigmentation of hair.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

Gene trapped (1)
Targeted (5) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Acvr2a (e-PCR), detects polymorphism
- UniSTS:480332

D2Mit240 (e-PCR), detects polymorphism
- UniSTS:129118

10.MMHAP20FRD7.seq (e-PCR)
- UniSTS:123017

MARC_17905-17906:1025019334:1 (e-PCR)
- UniSTS:268437

Acvr2a (e-PCR), detects polymorphism
- UniSTS:530848

MARC_31635-31636:1045776384:1 (e-PCR)
- UniSTS:269216

Acvr2 (e-PCR), detects polymorphism
- UniSTS:141021

Acvr2 (e-PCR), detects polymorphism
- UniSTS:141022

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

Acvr2 (e-PCR), detects polymorphism
- UniSTS:233952

Acvr2a (e-PCR), detects polymorphism
- UniSTS:496631

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables BMP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables activin binding	IBA Inferred from Biological aspect of Ancestor more info
enables activin binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to activin binding	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
contributes_to activin receptor activity	ISO Inferred from Sequence Orthology more info
enables activin receptor activity	ISO Inferred from Sequence Orthology more info
enables coreceptor activity	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 inhibin binding	IPI Inferred from Physical Interaction more info	PubMed
enables inhibin binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Sertoli cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to oxygen-glucose deprivation	ISO Inferred from Sequence Orthology 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 embryonic skeletal system development	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 male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within penile erection	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology 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 erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of follicle-stimulating hormone secretion	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 positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of nitric oxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sperm ejaculation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of inhibin-betaglycan-ActRII complex	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
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: activin receptor type-2A

Names: ACTR-IIA; activin receptor type IIA

NP_031422.3

EC 2.7.11.30

XP_006497686.1

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_007396.4 → NP_031422.3 activin receptor type-2A precursor

See identical proteins and their annotated locations for NP_031422.3

Status: VALIDATED

Source sequence(s)

AK041246, AK143186, BG066107, BY014959, CK340532

Consensus CDS

CCDS16021.1

UniProtKB/Swiss-Prot

P27038

UniProtKB/TrEMBL

A2AI38, Q8BRV4

Related

ENSMUSP00000067305.4, ENSMUST00000063886.4

Conserved Domains (2) summary

cd14141
Location:196 → 485

STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor

pfam01064
Location:59 → 114

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_000068.8 Reference GRCm39 C57BL/6J

Range

48704121..48793276

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497623.5 → XP_006497686.1 activin receptor type-2A isoform X1

See identical proteins and their annotated locations for XP_006497686.1

UniProtKB/TrEMBL

Q8BRV4

Conserved Domains (2) summary

cd14141
Location:204 → 493

STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor

pfam01064
Location:59 → 114

Activin_recp; Activin types I and II receptor domain