ACVR2B activin A receptor, type IIB [Homo sapiens] - Gene

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Summary

Official Symbol: ACVR2Bprovided by HGNC
Official Full Name: activin A receptor, type IIBprovided by HGNC
Primary source: HGNC:174
See related: Ensembl:ENSG00000114739; HPRD:04106; MIM:602730; Vega:OTTHUMG00000131291
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTX4; ACTRIIB; ActR-IIB; MGC116908
Summary: 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]

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Genomic context

Location :: 3p22

Sequence :: Chromosome: 3; NC_000003.11 (38495790..38534633)

See ACVR2B in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

discussion of crystal structure of kinase domain of ActRIIB; structural analysis may be of help in developing selective inhibitors [REVIEW]
Title: Crystal structure of activin receptor type IIB kinase domain.
Inhibition of negative regulators of skeletal muscle by a soluble form of activin type IIB receptor (ACE-031) increases muscle mass independent of fiber-type expression.
Title: Administration of a soluble activin type IIB receptor promotes skeletal muscle growth independent of fiber type.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
The high-resolution structure of human ActRIIB kinase domain in complex with adenine establishes the conserved bilobal architecture consistent with all other catalytic kinase domains.
Title: Crystal structure of activin receptor type IIB kinase domain from human at 2.0 Angstrom resolution.
These results indicate that haplotype structure at the ACVR2B and follistatin loci may contribute to interindividual variation in skeletal muscle mass and strength, although these data indicate sex-specific relationships.
Title: Activin-type II receptor B (ACVR2B) and follistatin haplotype associations with muscle mass and strength in humans.
Data indicate that activin A and activin receptors IIA and IIB may be involved in the regulation of germ cell proliferation in the human ovary during the period leading up to primordial follicle formation.
Title: Expression of activin subunits and receptors in the developing human ovary: activin A promotes germ cell survival and proliferation before primordial follicle formation.
activin signaling via type II receptors requires a specific sequence for ALK4 binding
Title: An activin mutant with disrupted ALK4 binding blocks signaling via type II receptors.
analysis of expression and cellular compartmentalization of the activin receptors ActRIIA, ActRIIB and ActRIB, the inhibin co-receptor (betaglycan), and activin signaling proteins Smads 2, 3 and 4, and growth regulatory role during lactation
Title: Localization of activin and inhibin subunits, receptors and SMADs in the mouse mammary gland.
distribution in gestational tissues across human pregnancy and during labour
Title: The distribution of activin and activin receptors in gestational tissues across human pregnancy and during labour.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Heterotaxy, visceral, 4, autosomal

MIM: 613751

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001097.1			BIND	PubMed	The activin homodimer interacts with ActRIIb. This interaction was modeled on a demonstrated interaction between the human activin A dimer and mouse ActRIIb.
Q13705	P36896	ACVR1B	HPRD	PubMed
Q13705	P12643	BMP2	HPRD	PubMed
Q13705	P18075	BMP7	HPRD	PubMed
Q13705	O95390	GDF11	HPRD	PubMed
Q13705	P43026	GDF5	HPRD	PubMed
Q13705	Immunoglobulin superfamily member 1	IGSF1	HPRD	PubMed
Q13705	P08476	INHBA	HPRD	PubMed
Q13705	P09529	INHBB	HPRD	PubMed
Q13705	P55103	INHBC	HPRD	PubMed
Q13705	O14793	MSTN	HPRD	PubMed
Q13705	Q13596	SNX1	HPRD	PubMed
Q13705	O60749	SNX2	HPRD	PubMed
Q13705	Q9UNH7	SNX6	HPRD	PubMed
Q13705	P57105	SYNJ2BP	HPRD	PubMed
Q13705	TGF beta receptor associated protein 1	TGFBRAP1	HPRD	PubMed
BioGRID:106608	BioGRID:106606	ACVR1B	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:106608	BioGRID:107122	BMP6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:107123	BMP7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:108337	ENG	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:113839	GDF5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:109763	IGSF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:109836	INHBA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:109837	INHBB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:108929	MSTN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:112525	SNX1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:112526	SNX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:121852	SNX6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106608	BioGRID:120614	SYNJ2BP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
activin binding	IEA Inferred from Electronic Annotation more info
activin receptor activity, type II	TAS Traceable Author Statement more info
contributes_to activin receptor activity, type II	TAS Traceable Author Statement more info	PubMed
growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
inhibin beta-A binding	IEA Inferred from Electronic Annotation more info
inhibin beta-B binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine/threonine kinase activity	EXP Inferred from Experiment more info
protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
protein serine/threonine/tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
receptor signaling protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta-activated receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
BMP signaling pathway	TAS Traceable Author Statement more info
activation of protein kinase activity	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
embryonic foregut morphogenesis	IEA Inferred from Electronic Annotation more info
gastrulation with mouth forming second	IEA Inferred from Electronic Annotation more info
heart development	IEA Inferred from Electronic Annotation more info
insulin secretion	IEA Inferred from Electronic Annotation more info
kidney development	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
mesoderm development	IEA Inferred from Electronic Annotation more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
organ growth	IEA Inferred from Electronic Annotation more info
palate development	IEA Inferred from Electronic Annotation more info
pancreas development	IEA Inferred from Electronic Annotation more info
pattern specification process	IEA Inferred from Electronic Annotation more info
positive regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
post-embryonic development	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
response to glucose stimulus	IEA Inferred from Electronic Annotation more info
signal transduction	IDA Inferred from Direct Assay more info	PubMed
skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: activin receptor type-2B

Names: activin receptor type-2B

NP_001097.2

EC 2.7.11.30

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_011791.1 RefSeqGene

Range

5001..43844

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001106.3 → NP_001097.2 activin receptor type-2B precursor

Status: REVIEWED

Source sequence(s)

AP006191, BC099642, BP352716

Consensus CDS

CCDS2679.1

UniProtKB/Swiss-Prot

Q13705

Related

ENSP00000340361, OTTHUMP00000161965, ENST00000352511, OTTHUMT00000254059

Conserved Domains (3) summary

cd00180
Location:198 – 396
Blast Score: 349

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:27 – 117
Blast Score: 163

Activin_recp; Activin types I and II receptor domain

pfam00069
Location:191 – 471
Blast Score: 477

Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

38495790..38534633

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

38561058..38576879

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB008681.1	BAA24180.2
genomic	AF060200.1	AAC64515.1
genomic	AF060201.1	AAC64515.1
genomic	AF060202.1	AAC64515.1
genomic	AP006191.1 (57421..96264)	None
genomic	CH471055.1	EAW64536.1
mRNA	AB209449.1	BAD92686.1
mRNA	AF075005.1	AAC28458.1
mRNA	BC096243.1	AAH96243.1
mRNA	BC096244.1	AAH96244.1
mRNA	BC096245.1	AAH96245.1
mRNA	BC099642.4	AAH99642.1
mRNA	BP352716.1	None
mRNA	X77533.1	CAA54671.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q13705.3	GenPept	UniProtKB/Swiss-Prot:Q13705
Q4VAU9	GenPept	UniProtKB/TrEMBL:Q4VAU9
Q59FL1	GenPept	UniProtKB/TrEMBL:Q59FL1
Q71UM3	GenPept	UniProtKB/TrEMBL:Q71UM3