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ACVR2B Gene

protein-coding   GIFtS: 72
GCID: GC03P038495

Activin A Receptor, Type IIB

  See ACVR2B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Activin A Receptor, Type IIB1 2     Activin Receptor Type-2B2
EC 2.7.11.303 8     ACTR-IIB3
ACTRIIB2 5     Activin Receptor Type IIB3
HTX42 5     EC 2.7.118
ActR-IIB2     

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 GC03P038470


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein serine/threonine/tyrosine kinase activity and protein serine/threonine kinase activity. An important paralog of this gene is ACVR1C.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   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 plasmidACVR2B promoter sequence
   Search Chromatin IP Primers for ACVR2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC03P038495:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for ACVR2B at MOPED

Post-translational modifications: 

  • Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity1
  • Glycosylation2 at Asn42, Asn65
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACVR2B (Q13705) (see all 24)
     QDKQSWQ  YLHEDVP  FCCCEGN  WLITAFH 


    See ACVR2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001097.2  
    ENSEMBL proteins: 
     ENSP00000340361  
    Reactome Protein details: Q13705

    ACVR2B Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for ACVR2B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: activin A receptor, type IIB
    Type II receptor serine/threonine kinases
    Type II subfamily

    5 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000472 Activin_rcpt
     IPR000719 Prot_kinase_dom
     IPR000333 TGFB_receptor

    Graphical View of Domain Structure for InterPro Entry Q13705

    ProtoNet protein and cluster: Q13705

    2 Blocks protein domains:
    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


    Find genes that share domains with ACVR2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IMP8622651
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004712protein serine/threonine/tyrosine kinase activity IEA--
         
    Find genes that share ontologies with ACVR2B           About GenesLikeMe


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

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acvr2b):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  muscle 
     renal/urinary system  respiratory system  skeleton 

    Find genes that share phenotypes with ACVR2B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACVR2B: Acvr2btm1Spo Acvr2btm1.1Spo Acvr2btm1Enl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACVR2B
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACVR2B

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    hsa-mir-103a-3p (MIRT027103), hsa-mir-141-3p (MIRT006342), hsa-mir-101-3p (MIRT027313), hsa-mir-215-5p (MIRT006340), hsa-mir-192-5p (MIRT006339), hsa-mir-200c-3p (MIRT006343), hsa-mir-335-5p (MIRT018170), hsa-mir-194-5p (MIRT006341), hsa-mir-140-3p (MIRT021666)

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    Selected qRT-PCR 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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AVR2B_HUMAN, Q13705: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA14738881
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8161782
    GO:0016020membrane ----

    Find genes that share ontologies with ACVR2B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ACVR2B About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    3Signaling by NODAL
    Signaling by NODAL0.39
    Regulation of Signaling by NODAL0.00
    Signaling by Activin0.39
    4L1CAM interactions
    Developmental Biology0.63
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with ACVR2B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    1 Sino Biological Pathway for ACVR2B
        TGF-beta Signaling Pathway

    4 Reactome Pathways for ACVR2B
        Signaling by Activin
    Signaling by NODAL
    Signaling by BMP
    Regulation of signaling by NODAL


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR2B: 
              Stem Cell Signaling in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACVR2B

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

    Selected Interacting proteins for ACVR2B (Q137051, 2, 3 ENSP000003403614) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSTNO147931, 2, 3, ENSP000002609504EBI-1383577,EBI-8542977 MINT-8432603 MINT-8432640 MINT-8432783 MINT-8432617 I2D: score=2 STRING: ENSP00000260950
    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
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    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--

    Find genes that share ontologies with ACVR2B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for ACVR2B (AVR2B)

    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 inferred 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)



    Find genes that share compounds with ACVR2B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Additional mRNA 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:

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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACVR2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTACAGT
    ACVR2B Expression
    About this image


    ACVR2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells
     
     Epithelial Cells
             Dental Placode Cells Dental Placode
     
     Pancreas (Endocrine System)
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
     
     Gut Tube (Gastrointestinal Tract)
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
    ACVR2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACVR2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.174273
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR2B: 
              Stem Cell Signaling in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACVR2B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvr2b1 , 5 activin receptor IIB1, 5 92.12(n)1
    99.41(a)1
      9 (71.33 cM)5
    114811  NM_007397.21  NP_031423.11 
     1194025015 
    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
    activin A receptor, type IIB
    83(a)
    1 ↔ 1
    GL343530.1(318510-465139)
    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   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ACVR2B gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    9 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

    Find genes that share paralogs with ACVR2B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACVR2B (see all 975)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214344371,2,,4
    C,FHeterotaxy, visceral, 4, autosomal (HTX4)4 pathogenic138451275(+) GGAGCG/ACACCA 2 /H /R mis11Minor allele frequency- A:0.01NA 4500
    VAR_0132824
    Heterotaxy, visceral, 4, autosomal (HTX4)4--see VAR_0132822 V I mis40--------
    rs37627881,2
    C,F,A--38426276(+) GTGTTC/ACTGCT 1 -- us2k113Minor allele frequency- A:0.32EA NA WA 1986
    rs622399331,2
    C,F--38426283(+) TGCTGC/TTCTGG 1 -- us2k15Minor allele frequency- T:0.09NA WA EA 362
    rs766807081,2
    C,F--38426294(+) TGACCG/AGGGGT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1877182331,2
    --38426316(+) TTTCAA/TTGTCA 1 -- us2k10--------
    rs1400712281,2
    --38426478(+) CTACCA/GAGTAG 1 -- us2k10--------
    rs1927055101,2
    --38426486(+) TAGTTA/GGAATT 1 -- us2k10--------
    rs1419848741,2
    --38426573(+) GGTCTC/TGAACT 1 -- us2k10--------
    rs1857123371,2
    --38426639(+) CACCTC/TGCCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACVR2B (38495342 - 38534633 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ACVR2B: --
    Human Gene Mutation Database (HGMD): ACVR2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACVR2B
    DNA2.0 Custom Variant and Variant Library Synthesis for ACVR2B

    (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

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    OMIM gene information: 602730   
    OMIM disorders: 613751  
    UniProtKB/Swiss-Prot: AVR2B_HUMAN, Q13705
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 5 diseases for ACVR2B:    
    About MalaCards
    heterotaxy, visceral, 4, autosomal    acvr2b-related visceral heterotaxy    left-right axis malformations    dextrocardia
    heterotaxy

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

    Find genes that share disorders with ACVR2B           About GenesLikeMe

    3 Novoseek inferred 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

    (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

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    PubMed articles for ACVR2B gene, integrated from 10 sources (see all 136):
    (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. (Am. J. Med. Genet. 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. (J. Hum. Genet. 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. (Blood 1994)
    4. Activation of signalling by the activin receptor complex. (PubMed id 8622651)1, 2, 9 Attisano L.... Massague J. (Mol. Cell. Biol. 1996)
    5. Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex. (PubMed id 22718755)1, 2 Townson S.A....Grinberg A.V. (J. Biol. Chem. 2012)
    6. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    7. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    9. 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. (Genome Res. 2004)
    10. 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. (Protein Sci. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=ACVR2B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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