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Aliases for ACVR2B Gene

Aliases for ACVR2B Gene

  • Activin A Receptor Type 2B 2 3
  • Activin A Receptor, Type IIB 2 3
  • Activin A Receptor Type IIB 3 5
  • EC 2.7.11.30 4 63
  • ActR-IIB 3 4
  • Activin Receptor Type IIB 4
  • EC 2.7.11 63
  • ACTRIIB 3
  • HTX4 3

External Ids for ACVR2B Gene

Previous GeneCards Identifiers for ACVR2B Gene

  • GC03P037785
  • GC03P038309
  • GC03P038456
  • GC03P038470
  • GC03P038495

Summaries for ACVR2B Gene

Entrez Gene Summary for ACVR2B Gene

  • 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]

GeneCards Summary for ACVR2B Gene

ACVR2B (Activin A Receptor Type 2B) is a Protein Coding gene. Diseases associated with ACVR2B include Heterotaxy, Visceral, 4, Autosomal and Acvr2b-Related Visceral Heterotaxy. Among its related pathways are Signaling by NODAL and ERK Signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for ACVR2B Gene

  • 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.

Gene Wiki entry for ACVR2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR2B Gene

Genomics for ACVR2B Gene

Regulatory Elements for ACVR2B Gene

Enhancers for ACVR2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACVR2B on UCSC Golden Path with GeneCards custom track

Promoters for ACVR2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACVR2B on UCSC Golden Path with GeneCards custom track

Genomic Location for ACVR2B Gene

Chromosome:
3
Start:
38,453,851 bp from pter
End:
38,493,142 bp from pter
Size:
39,292 bases
Orientation:
Plus strand

Genomic View for ACVR2B Gene

Genes around ACVR2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR2B Gene

Proteins for ACVR2B Gene

  • Protein details for ACVR2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13705-AVR2B_HUMAN
    Recommended name:
    Activin receptor type-2B
    Protein Accession:
    Q13705
    Secondary Accessions:
    • Q4VAV0

    Protein attributes for ACVR2B Gene

    Size:
    512 amino acids
    Molecular mass:
    57724 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms an activin receptor complex with activin type II receptors such as ACVR1B. Interacts with VPS39.

    Three dimensional structures from OCA and Proteopedia for ACVR2B Gene

    Alternative splice isoforms for ACVR2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACVR2B Gene

Proteomics data for ACVR2B Gene at MOPED

Post-translational modifications for ACVR2B Gene

  • Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity.
  • Glycosylation at Asn 42 and Asn 65
  • Modification sites at PhosphoSitePlus

Other Protein References for ACVR2B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACVR2B Gene

Suggested Antigen Peptide Sequences for ACVR2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13705

UniProtKB/Swiss-Prot:

AVR2B_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVR2B: view

Function for ACVR2B Gene

Molecular function for ACVR2B Gene

GENATLAS Biochemistry:
activin A receptor,type IIB,stimulating FSH secretion,TGF beta superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ACVR2B Gene

Gene Ontology (GO) - Molecular Function for ACVR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034711 inhibin binding IEA --
GO:0048185 activin binding IEA --
genes like me logo Genes that share ontologies with ACVR2B: view
genes like me logo Genes that share phenotypes with ACVR2B: view

Human Phenotype Ontology for ACVR2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACVR2B Gene

MGI Knock Outs for ACVR2B:

Animal Model Products

miRNA for ACVR2B Gene

miRTarBase miRNAs that target ACVR2B

No data available for Transcription Factor Targets and HOMER Transcription for ACVR2B Gene

Localization for ACVR2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR2B Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVR2B Gene COMPARTMENTS Subcellular localization image for ACVR2B gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ACVR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 14738881
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ACVR2B: view

Pathways & Interactions for ACVR2B Gene

genes like me logo Genes that share pathways with ACVR2B: view

SIGNOR curated interactions for ACVR2B Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ACVR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001822 kidney development IEA --
GO:0001974 blood vessel remodeling IEA,ISS --
GO:0006355 regulation of transcription, DNA-templated IDA 8622651
genes like me logo Genes that share ontologies with ACVR2B: view

Drugs & Compounds for ACVR2B Gene

(7) Drugs for ACVR2B Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
ACE-031 Pharma 0
Manganese Pharma 32
Magnesium Nutra 0

(2) Additional Compounds for ACVR2B Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ACVR2B: view

Transcripts for ACVR2B Gene

mRNA/cDNA for ACVR2B Gene

Unigene Clusters for ACVR2B Gene

Activin A receptor, type IIB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2:

Relevant External Links for ACVR2B Gene

GeneLoc Exon Structure for
ACVR2B
ECgene alternative splicing isoforms for
ACVR2B

Expression for ACVR2B Gene

mRNA expression in normal human tissues for ACVR2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR2B Gene

This gene is overexpressed in Platelet (56.0) and Brain (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACVR2B Gene



SOURCE GeneReport for Unigene cluster for ACVR2B Gene Hs.174273

genes like me logo Genes that share expression patterns with ACVR2B: view

Protein tissue co-expression partners for ACVR2B Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACVR2B Gene

Orthologs for ACVR2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR2B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACVR2B 35
  • 92.58 (n)
  • 98.44 (a)
ACVR2B 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR2B 35
  • 91.21 (n)
  • 96.87 (a)
ACVR2B 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr2b 35
  • 92.12 (n)
  • 99.41 (a)
Acvr2b 16
Acvr2b 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACVR2B 35
  • 99.67 (n)
  • 100 (a)
ACVR2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr2b 35
  • 91.6 (n)
  • 99.02 (a)
oppossum
(Monodelphis domestica)
Mammalia ACVR2B 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR2B 35
  • 78.32 (n)
  • 89.45 (a)
ACVR2B 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR2B 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr2b 35
  • 75.61 (n)
  • 84.81 (a)
Str.4193 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1053 35
zebrafish
(Danio rerio)
Actinopterygii acvr2b 35
  • 74.98 (n)
  • 79.57 (a)
acvr2b 36
  • 78 (a)
OneToMany
ACVR2B (1 of 2) 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta put 37
  • 48 (a)
put 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-4 37
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9355 36
  • 41 (a)
OneToMany
Species with no ortholog for ACVR2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVR2B Gene

ENSEMBL:
Gene Tree for ACVR2B (if available)
TreeFam:
Gene Tree for ACVR2B (if available)

Paralogs for ACVR2B Gene

(9) SIMAP similar genes for ACVR2B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACVR2B: view

Variants for ACVR2B Gene

Sequence variations from dbSNP and Humsavar for ACVR2B Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121434437 Heterotaxy, visceral, 4, autosomal (HTX4) 38,477,353(+) GGAGC(A/G)CACCA reference, missense
VAR_013282 Heterotaxy, visceral, 4, autosomal (HTX4)
rs35882617 - 38,478,379(+) GGACC(C/G)TGGGC reference, missense
rs500611 - 38,483,170(-) CAGCA(A/C)TCCTC reference, missense
rs10421 -- 38,483,354(+) TCTGT(C/G)CAGAC utr-variant-3-prime

Variation tolerance for ACVR2B Gene

Residual Variation Intolerance Score: 6.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACVR2B Gene

Human Gene Mutation Database (HGMD)
ACVR2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACVR2B Gene

Disorders for ACVR2B Gene

MalaCards: The human disease database

(8) MalaCards diseases for ACVR2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
heterotaxy, visceral, 4, autosomal
  • left-right axis malformations
acvr2b-related visceral heterotaxy
  • heterotaxy, visceral, 4, autosomal
visceral heterotaxy
  • heterotaxia
right aortic arch
heterotaxy
  • heterotaxy, visceral, 2, autosomal
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AVR2B_HUMAN
  • Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX4 clinical features 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. {ECO:0000269 PubMed:9916847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACVR2B

Genetic Association Database (GAD)
ACVR2B
Human Genome Epidemiology (HuGE) Navigator
ACVR2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR2B
genes like me logo Genes that share disorders with ACVR2B: view

No data available for Genatlas for ACVR2B Gene

Publications for ACVR2B Gene

  1. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. (PMID: 9916847) Kosaki R. … Casey B. (Am. J. Med. Genet. 1999) 3 4 23 48 67
  2. Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene. (PMID: 9621519) Ishikawa S. … Nakamura Y. (J. Hum. Genet. 1998) 2 3 23
  3. Expression of type II activin receptor genes during differentiation of human K562 cells and cDNA cloning of the human type IIB activin receptor. (PMID: 8161782) Hilden K. … Ritvos O. (Blood 1994) 2 3 23
  4. Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin. (PMID: 18326817) Xia Y. … Lin H.Y. (Blood 2008) 3 23
  5. Crystal structure of activin receptor type IIB kinase domain from human at 2.0 Angstrom resolution. (PMID: 17893364) Han S. … Xie Z. (Protein Sci. 2007) 3 23

Products for ACVR2B Gene

Sources for ACVR2B Gene

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