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Aliases for ACVR2B Gene

Aliases for ACVR2B Gene

  • Activin A Receptor, Type IIB 2 3
  • EC 2.7.11.30 4 63
  • ActR-IIB 3 4
  • ACTRIIB 3 6
  • HTX4 3 6
  • Activin Receptor Type IIB 4
  • Activin Receptor Type-2B 3
  • EC 2.7.11 63

External Ids for ACVR2B Gene

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 IIB) 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 GPCR and L1CAM interactions. GO annotations related to this gene include protein serine/threonine kinase activity and protein serine/threonine/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

Genomic Location for ACVR2B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVR2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR2B Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn42 and Asn65

Other Protein References for ACVR2B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains 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
Domain:
  • Contains 1 protein kinase domain.:
    • Q13705
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • Q13705
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:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IMP 8622651
GO:0004675 transmembrane receptor protein serine/threonine kinase activity --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004712 protein serine/threonine/tyrosine kinase activity IEA --
genes like me logo Genes that share ontologies with ACVR2B: view
genes like me logo Genes that share phenotypes with ACVR2B: view

Animal Models for ACVR2B Gene

MGI Knock Outs for ACVR2B:

No data available for Transcription Factor Targeting 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 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACVR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 14738881
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8161782
GO:0016020 membrane --
GO:0043234 protein complex IDA 24019467
genes like me logo Genes that share ontologies with ACVR2B: view

Pathways for ACVR2B Gene

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

Gene Ontology (GO) - Biological Process for ACVR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001822 kidney development IEA --
GO:0001946 lymphangiogenesis ISS --
GO:0001974 blood vessel remodeling ISS --
genes like me logo Genes that share ontologies with ACVR2B: view

Compounds for ACVR2B Gene

(4) HMDB Compounds for ACVR2B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(4) Novoseek inferred chemical compound relationships for ACVR2B Gene

Compound -log(P) Hits PubMed IDs
threonine 68.9 4
astressin 63.5 2
serine 55 3
retinoic acid 0 2
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

Integrated Proteomics: protein expression 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 expressions with ACVR2B: view

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
chimpanzee
(Pan troglodytes)
Mammalia ACVR2B 35
  • 99.67 (n)
  • 100 (a)
ACVR2B 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ACVR2B 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr2b 35
  • 91.6 (n)
  • 99.02 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.1053 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr2b 35
  • 75.61 (n)
  • 84.81 (a)
Str.4193 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 36
  • 47 (a)
OneToMany
put 37
  • 48 (a)
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

Selected 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 MAF
rs10421 -- 38,483,354(+) TCTGT(C/G)CAGAC utr-variant-3-prime
rs472955 -- 38,461,061(+) CAGGA(A/G)ACTAA intron-variant
rs473999 -- 38,477,234(+) GGGTT(G/T)GGGTG intron-variant
rs475911 -- 38,477,443(+) CACCA(G/T)CGAGC missense, reference
rs476501 -- 38,470,880(+) TTTAA(A/G)AGATA intron-variant

Relevant External Links for ACVR2B Gene

HapMap Linkage Disequilibrium report
ACVR2B
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

(1) OMIM Diseases for ACVR2B Gene (602730)

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.

(1) University of Copenhagen DISEASES for ACVR2B Gene

(3) Novoseek inferred disease relationships for ACVR2B Gene

Disease -log(P) Hits PubMed IDs
hypoplasia 13 1
tumors 0 2
carcinoma 0 1

Relevant External Links for ACVR2B

Genetic Association Database (GAD)
ACVR2B
Human Genome Epidemiology (HuGE) Navigator
ACVR2B
genes like me logo Genes that share disorders with ACVR2B: view

Publications for ACVR2B Gene

  1. 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 4 23
  2. 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
  3. 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 4 23
  4. Activation of signalling by the activin receptor complex. (PMID: 8622651) Attisano L. … Massague J. (Mol. Cell. Biol. 1996) 3 4 23
  5. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. (PMID: 8702914) Nishitoh H. … Miyazono K. (J. Biol. Chem. 1996) 3 23

Products for ACVR2B Gene

Sources for ACVR2B Gene

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