ACVR2B activin A receptor type 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACVR2Bprovided by HGNC
Official Full Name: activin A receptor type 2Bprovided by HGNC
Primary source: HGNC:HGNC:174
See related: Ensembl:ENSG00000114739 MIM:602730; AllianceGenome:HGNC:174
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
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]
Expression: Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (38453890..38493142)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (38459967..38499186)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (38495381..38534633)

Chromosome 3 - NC_000003.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activin A and Acvr2b mRNA from Umbilical Cord Blood Are Not Reliable Markers of Mild or Moderate Neonatal Hypoxic-Ischemic Encephalopathy.
Title: Activin A and Acvr2b mRNA from Umbilical Cord Blood Are Not Reliable Markers of Mild or Moderate Neonatal Hypoxic-Ischemic Encephalopathy.
The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.
Title: The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.
Effects of Roux-en-Y gastric bypass on circulating follistatin, activin A, and peripheral ActRIIB signaling in humans with obesity and type 2 diabetes.
Title: Effects of Roux-en-Y gastric bypass on circulating follistatin, activin A, and peripheral ActRIIB signaling in humans with obesity and type 2 diabetes.
Deficiency of myostatin protects skeletal muscle cells from ischemia reperfusion injury.
Title: Deficiency of myostatin protects skeletal muscle cells from ischemia reperfusion injury.
Activation of activin receptor-2B by myostatin modulates the fibrogenic phenotype of human stellate cells, indicating that a myokine may be implicated in the pathogenesis of hepatic fibrosis.
Title: Myostatin regulates the fibrogenic phenotype of hepatic stellate cells via c-jun N-terminal kinase activation.
MicroRNA-194 protects against chronic hepatitis B-related liver damage by promoting hepatocyte growth via ACVR2B.
Title: MicroRNA-194 protects against chronic hepatitis B-related liver damage by promoting hepatocyte growth via ACVR2B.
Study supported ACVR2B as the facilitator for clear cell kidney carcinoma (KIRC) development. Its up-regulation controls the growth, viability, and EMT-specific protein expressions of KIRC cells.
Title: LncRNA MALAT1 modified progression of clear cell kidney carcinoma (KIRC) by regulation of miR-194-5p/ACVR2B signaling.
the A allele of genetic variant rs2276541 in ACVR2B is associated with lean muscle mass
Title: Genetic Variant in ACVR2B Is Associated with Lean Mass.
TGF-beta receptor mediated telomerase inhibition, telomere shortening and breast cancer cell senescence.(
Title: TGF-beta receptor mediated telomerase inhibition, telomere shortening and breast cancer cell senescence.
ActR-IIB is expressed in male germ cells and Sertoli cells.
Title: NODAL secreted by male germ cells regulates the proliferation and function of human Sertoli cells from obstructive azoospermia and nonobstructive azoospermia patients.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Heterotaxy, visceral, 4, autosomal MedGen: C3151057 OMIM: 613751 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

D10S16 (e-PCR)
- UniSTS:155756

D1S3693 (e-PCR)
- UniSTS:474271

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

RH99151 (e-PCR)
- UniSTS:88009

STS-N30308 (e-PCR)
- UniSTS:36308

RH65433 (e-PCR)
- UniSTS:46299

NoName (e-PCR)
- UniSTS:480734

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

Gene Ontology Provided by GOA

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 receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type II	IDA Inferred from Direct Assay more info	PubMed
contributes_to activin receptor activity, type II	TAS Traceable Author Statement more info	PubMed
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase activator activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine/threonine/tyrosine kinase activity	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: activin receptor type-2B

Names: activin A receptor, type IIB

NP_001097.2

EC 2.7.11.30

XP_005265640.1

EC 2.7.11.30

XP_016863003.1

EC 2.7.11.30

XP_016863004.1

EC 2.7.11.30

XP_016863005.1

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.

Genomic

NG_011791.1 RefSeqGene

Range

4592..43844

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001106.4 → NP_001097.2 activin receptor type-2B precursor

See identical proteins and their annotated locations for NP_001097.2

Status: REVIEWED

Source sequence(s)

AP006191, BC099642, BP352716

Consensus CDS

CCDS2679.1

UniProtKB/Swiss-Prot

Q13705, Q4VAV0

UniProtKB/TrEMBL

Q59FL1

Related

ENSP00000340361.3, ENST00000352511.5

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

38453890..38493142

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007515.3 → XP_016863004.1 activin receptor type-2B isoform X3

UniProtKB/TrEMBL

Q59FL1

Conserved Domains (2) summary

cd14140
Location:200 → 490

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

pfam01064
Location:47 → 116

Activin_recp; Activin types I and II receptor domain
XM_005265583.4 → XP_005265640.1 activin receptor type-2B isoform X1

UniProtKB/TrEMBL

Q59FL1

Conserved Domains (3) summary

smart00220
Location:219 → 492

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14140
Location:215 → 505

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

pfam01064
Location:48 → 138

Activin_recp; Activin types I and II receptor domain
XM_017007514.2 → XP_016863003.1 activin receptor type-2B isoform X2

UniProtKB/TrEMBL

Q59FL1
XM_017007516.2 → XP_016863005.1 activin receptor type-2B isoform X4

UniProtKB/TrEMBL

Q59FL1