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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACVR2B Gene

protein-coding   GIFtS: 71
GCID: GC03P038470

activin A receptor, type IIB
 Explore 27 diseases affiliated with
ACVR2B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACVR2B    

Aliases
for ACVR2B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Activin A Receptor, Type IIB1 2     Activin Receptor Type-2B2
ActR-IIB1 2     ACTR-IIB3
EC 2.7.11.303 8     Activin Receptor Type IIB3
ACTRIIB2 5     EC 2.7.118
HTX42     

External Ids:    HGNC: 1741   Entrez Gene: 932   Ensembl: ENSG000001147397   OMIM: 6027305   UniProtKB: Q137053   

Export aliases for ACVR2B gene to outside databases

Previous GC identifers: GC03P037785 GC03P038309 GC03P038456


Summaries
for ACVR2B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACVR2B:
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)

UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705
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

Gene Wiki entry for ACVR2B


Genomic Views
for ACVR2B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACVR2B gene promoter:
         Egr-3   STAT5B   STAT1   p300   STAT1beta   Ik-3   E47   Roaz   STAT1alpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACVR2B promoter sequence
   Search SABiosciences Chromatin IP Primers for ACVR2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACVR2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p22

ACVR2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR2B gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P038470:  view genomic region     (about GC identifiers)

Start:
 38,495,342 bp from pter      End:
 38,534,633 bp from pter
Size:
 39,292 bases      Orientation:
 plus strand

Proteins
for ACVR2B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705 (See protein sequence)
Recommended Name: Activin receptor type-2B precursor  
Size: 512 amino acids; 57724 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Forms an activin receptor complex with activin type II receptors such as ACVR1B. Interacts with VPS39
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)
3 PDB 3D structures from and Proteopedia for ACVR2B:
2H62 (3D)        2QLU (3D)        4FAO (3D)    
Secondary accessions: Q4VAV0
Alternative splicing: 2 isoforms:  Q13705-1   Q13705-2   (Produced from the insertion in the transcript of 82 base pairs, leading to frameshift and protein truncation. May be not functional)

Explore the universe of human proteins at neXtProt for ACVR2B: NX_Q13705

Post-translational modifications:

  • Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13705

    • 4/24 DME Specific Peptides for ACVR2B (Q13705) (see all 24)
     QDKQSWQ  YLHEDVP  FCCCEGN  WLITAFH 

    ACVR2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001097.2  
    ENSEMBL proteins: 
     ENSP00000340361  
    Reactome Protein details: Q13705
    Human Recombinant Protein Products: 
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    Novus Biologicals ACVR2B Proteins
    Novus Biologicals ACVR2B Lysates
    Sino Biological Recombinant Protein for ACVR2B
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACVR2B

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA14738881
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8161782
    GO:0009986cell surface IDA12493773


    ACVR2B for ontologies           About GeneDecksing



    ACVR2B Antibody Products: 
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    Uscn ELISAs and CLIAs for ACVR2B

    Protein Domains /
    Families
    for ACVR2B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACVR2B for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR015768 Activin_II_recpt
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000472 Activin_rcpt
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q13705

    ProtoNet protein and cluster: Q13705

    2 Blocks protein families:
    IPB000333 Activin type II receptor signature
    IPB000472 Domain in TGF-beta receptor/activin receptor


    UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 protein kinase domain


    Function
    for ACVR2B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705
    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
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for ACVR2B:
    activin A receptor,type IIB,stimulating FSH secretion,TGF beta superfamily

    Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

    miRNA
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    8/273 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVR2B (see all 273):
    hsa-miR-411* hsa-miR-579 hsa-miR-3170 hsa-miR-200b hsa-miR-642b hsa-miR-374b* hsa-miR-34c-5p hsa-miR-23c
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVR2B (see all 7)
    OriGene shRNA RFP: ACVR2B
    OriGene siRNA: ACVR2B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR2B

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IMP8622651
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004712protein serine/threonine/tyrosine kinase activity IEA--
    GO:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005515protein binding IPI9872992


    ACVR2B for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ACVR2B:
     Gemcitabine induced cell-death  Increased apoptosis  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for ACVR2B: Acvr2btm1Spo Acvr2btm1.1Spo Acvr2btm1Enl
         13 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acvr2b):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  muscle 
     renal/urinary system  respiratory system  skeleton 

    ACVR2B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACVR2B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NODAL
    		Signaling by NODAL1.00
    		Signaling by Activin0.36
    		Regulation of Signaling by NODAL0.56
    2Akt Signaling
    		Akt Signaling1.00
    		Tec Kinases Signaling0.55
    		p38 Signaling0.60
    3Signal transduction Activin A signaling regulation
    		Signal transduction Activin A signaling regulation1.00
    		Signal transduction_Activin A signaling regulation0.96
    4PKA activation in glucagon signalling
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    		Development Role of Activin A in cell differentiation and proliferation0.33
    5PEDF Induced Signaling
    		STAT3 Pathway0.47
    		Cytokine-cytokine receptor interaction0.26

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ACVR2B
        Development Role of Activin A in cell differentiation and proliferation
    Signal transduction Activin A signaling regulation

    5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACVR2B (see all 8)
        STAT3 Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling

    2 GeneGo (Thomson Reuters) Pathways for ACVR2B
        Signal transduction Activin A signaling regulation
    Development Role of Activin A in cell differentiation and proliferation

    5/6        Reactome Pathways for ACVR2B (see all 6)
        Signaling by Activin
    Developmental Biology
    Signal Transduction
    Signaling by NODAL
    Regulation of Signaling by NODAL


    2         Kegg Pathways  (Kegg details for ACVR2B):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway


    ACVR2B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVR2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for ACVR2B (Q137052, 3 ENSP000003403614) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDF11O953902, 3, ENSP000002578684MINT-8044205 I2D: score=3 STRING: ENSP00000257868
    FSTL1Q128412, 3, ENSP000002956334MINT-7990852 I2D: score=1 STRING: ENSP00000295633
    ACVR1BP368963, ENSP000002579634I2D: score=3 STRING: ENSP00000257963
    SYNJ2BPP571053, ENSP000002563664I2D: score=3 STRING: ENSP00000256366
    GDF5P430263, ENSP000003634894I2D: score=2 STRING: ENSP00000363489
    About this table

    Gene Ontology (GO): 5/33 biological process terms (GO ID links to tree view) (see all 33):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0001822kidney development IEA--
    GO:0001946lymphangiogenesis ISS--
    GO:0001974blood vessel remodeling ISS--


    ACVR2B for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACVR2B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACVR2B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACVR2B

    4 HMDB Compounds for ACVR2B    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    4 Novoseek chemical compound relationships for ACVR2B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 68.9 6 17893364 (1), 1310075 (1), 10652306 (1), 12665502 (1)
    astressin 63.5 3 9449626 (1), 15653688 (1)
    serine 55 3 1310075 (1), 10652306 (1), 12665502 (1)
    retinoic acid 0 5 9242489 (2)

    Search CenterWatch for drugs/clinical trials and news about ACVR2B / AVR2B 

    Transcripts
    for ACVR2B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ACVR2B gene: 
    NM_001106.3  

    Unigene Cluster for ACVR2B:

    Activin A receptor, type IIB
    Hs.174273  [show with all ESTs]
    Unigene Representative Sequence: NM_001106
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352511(uc003cif.3 uc003cig.3) ENST00000465020 ENST00000461232


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    hsa-miR-411* hsa-miR-579 hsa-miR-3170 hsa-miR-200b hsa-miR-642b hsa-miR-374b* hsa-miR-34c-5p hsa-miR-23c
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR2B
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF075005.1 BC096243.1 BC096244.1 BC096245.1 BC099642.4 X77533.1 

    7 DOTS entries:

    DT.112110  DT.101972686  DT.120906411  DT.108649  DT.120906415  DT.95357406  DT.40128877 

    24 AceView cDNA sequences:

    AF075005 AW206608 AI337218 AA584783 BM681447 CA449586 BE733986 X77533 
    NM_001106 BF592947 BP352716 BM727806 AI143544 CF141438 BE857424 AI247855 
    BE732193 AA226002 T54133 R68237 N84806 R82487 T54229 R26777 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ACVR2B    About this scheme

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


    ECgene alternative splicing isoforms for ACVR2B

    Expression
    for ACVR2B gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACVR2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATTACAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACVR2B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeDorsal Foregut EndodermDorsal Foregut Endoderm CellsEndoderm
    PancreasPrepancreatic Dorsal Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACVR2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACVR2B

    SOURCE GeneReport for Unigene cluster: Hs.174273
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACVR2B: 
              Stem Cell Signaling in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ACVR2B gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ACVR2B gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACVR2B1 activin A receptor, type IIB 78.32(n)
    89.45(a)    		   374213  NM_204317.1  NP_989648.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ACVR2B6
    		 --
    		 88(a)
    		 1 ↔ 1
    		 GL343530.1(319565-353655)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.10532 Xenopus laevis activin receptor IIB mRNA, complete more 76.68(n)    M88594.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii acvr2b2 activin receptor IIb 78.15(n)   30457  AF069500.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta put3 TGFbeta receptor signaling pathway protein
    kinase    		 48(a)   88C9   --
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-43 Expression: alimentary system, amphid
    neurons, more    		 41(a)   III(5696920-5703621)   --


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

    Paralogs
    for ACVR2B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACVR2B gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR1B2  TGFBR12  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    11 SIMAP similar genes for ACVR2B using alignment to 2 protein entries:     AVR2B_HUMAN (see all proteins):
    H_YH98E06.1    ACVR2A    TGFBR2    BMPR2    TGFBR1    ACVR1
    ACVR1C    BMPR1B    ACVRL1    ACVR1B    BMPR1A

    ACVR2B for paralogs           About GeneDecksing



    Genomic Variants
    for ACVR2B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/821 NCBI SNPs in ACVR2B are shown (see all 821)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214344371,2
    		C,F,pathogenic38518844(+) GGAGCG/ACACCA 2 /H /R mis11Minor allele frequency- A:0.01NA 4500
    rs37627881,2
    		C,F,A,--38493852(+) GTGTTC/ACTGCT 2 -- us2k1 nc-transcript-variant13Minor allele frequency- A:0.32EA NA WA 1986
    rs622399331,2
    		C,F,--38493859(+) TGCTGC/TTCTGG 2 -- us2k1 nc-transcript-variant5Minor allele frequency- T:0.09NA WA EA 362
    rs766807081,2
    		F,--38493870(+) TGACCG/AGGGGT 2 -- nc-transcript-variantus2k11Minor allele frequency- A:0.03EA 120
    rs1877182331,2
    		--38493892(+) TTTCAA/TTGTCA 2 -- us2k1 nc-transcript-variant0--------
    rs1400712281,2
    		--38494054(+) CTACCA/GAGTAG 2 -- nc-transcript-variantus2k10--------
    rs1927055101,2
    		--38494062(+) TAGTTA/GGAATT 2 -- us2k1 nc-transcript-variant0--------
    rs1419848741,2
    		--38494149(+) GGTCTC/TGAACT 2 -- us2k1 nc-transcript-variant0--------
    rs1857123371,2
    		--38494215(+) CACCTC/TGCCCT 2 -- us2k1 nc-transcript-variant0--------
    rs1906711461,2
    		--38494216(+) ACCTCA/GCCCTG 2 -- nc-transcript-variantus2k10--------

    HapMap Linkage Disequilibrium report for ACVR2B (38495342 - 38534633 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ACVR2B: --
    Human Gene Mutation Database (HGMD): ACVR2B

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ACVR2B

    Disorders / Diseases
    for ACVR2B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ACVR2B for disorders           About GeneDecksing

    OMIM gene information: 602730    OMIM disorders: --

    UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705
  • Defects in ACVR2B are the cause of visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751]. A form of
    • visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal
    organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical
    features of visceral heterotaxy type 4 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

    20/27 diseases for ACVR2B (see all 27):    About MalaCards
    left-right axis malformations    maturity-onset diabetes of the young    maturity-onset diabetes of the young, type 2    heterotaxy
    visceral heterotaxy    pre-eclampsia    amyotrophic lateral sclerosis    lateral sclerosis
    muscle hypertrophy    dextrocardia    muscular dystrophy    pituitary adenoma
    eclampsia    goiter    teratocarcinoma    pheochromocytoma
    esophageal carcinoma    adenoma    ovarian carcinoma    esophagitis

    1 disease from the University of Copenhagen DISEASES database for ACVR2B:
    Dextrocardia

    3 Novoseek disease relationships for ACVR2B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoplasia 13 2 11334431 (1)
    tumors 0 2 8636304 (1), 11889215 (1)
    carcinoma 0 1 17121532 (1)

    Genetic Association Database (GAD): ACVR2B
    Human Genome Epidemiology (HuGE) Navigator: ACVR2B (4 documents)

    Export disorders for ACVR2B gene to outside databases

    Publications
    for ACVR2B gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACVR2B gene, integrated from 9 sources (see all 133):
    (articles sorted by number of sources associating them with ACVR2B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. (PubMed id 9916847)1, 2, 4, 9 Kosaki R....Casey B. (1999)
    2. Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene. (PubMed id 9621519)1, 2, 3, 9 Ishikawa S.... Nakamura Y. (1998)
    3. Expression of type II activin receptor genes during differentiation of human K562 cells and cDNA cloning of the human type IIB activin receptor. (PubMed id 8161782)1, 2, 3, 9 Hilden K.... Ritvos O. (1994)
    4. Activation of signalling by the activin receptor complex. (PubMed id 8622651)1, 2, 9 Attisano L....Massague J. (1996)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Crystal structure of activin receptor type IIB kinase domain from human at 2.0 Angstrom resolution. (PubMed id 17893364)1, 9 Han S....Xie Z. (2007)
    7. Bone morphogenetic proteins. (PubMed id 15621726)1, 9 Chen D....Mundy G.R. (2004)
    8. Myostatin signals through a transforming growth factor beta-like signaling pathway to block adipogenesis. (PubMed id 14517293)1, 9 Rebbapragada A....Attisano L. (2003)
    9. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. (PubMed id 8702914)1, 9 Nishitoh H....Miyazono K. (1996)
    10. Expression of activin subunits and receptors in the developing human ovary: activin A promotes germ cell survival and proliferation before primordial follicle formation. (PubMed id 14738881)1, 9 Martins da Silva S.J....Anderson R.A. (2004)

    External Searches for ACVR2B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACVR2B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93 HGNC: 174 AceView: ACVR2B Ensembl:ENSG00000114739 euGenes: HUgn93
    ECgene: ACVR2B Kegg: 93 H-InvDB: ACVR2B

    Other Databases showing ACVR2B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACVR2B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACVR2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVR2B Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACVR2B

    Intellectual Property
    for ACVR2B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACVR2B gene:
    Search GeneIP for patents involving ACVR2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for ACVR2B gene

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    About This Section

     
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