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ACVR2A Gene

protein-coding   GIFtS: 68
GCID: GC02P148602

Activin A Receptor, Type IIA

(Previous names: activin A receptor, type II)
(Previous symbol: ACVR2)
  See ACVR2A-related disease
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Activin A Receptor, Type IIA1 2     Activin Receptor Type-2A2
ACVR21 2 3 5     ACTR-IIA3
EC 2.7.11.303 8     ACTRIIA3
Activin A Receptor, Type II1     Activin Receptor Type IIA3
ACTRII2     EC 2.7.118

External Ids:    HGNC: 1731   Entrez Gene: 922   Ensembl: ENSG000001219897   OMIM: 1025815   UniProtKB: P270373   
ORGUL members:         

Export aliases for ACVR2A gene to outside databases

Previous GC identifers: GC02P148437 GC02P148319 GC02P140599


(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 ACVR2A Gene:
This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth
factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a
transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with
various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II
receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a
transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with
susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and
mortality. Alternative splicing results in multiple transcript variants of this gene. (provided by RefSeq, Jun
2013)

GeneCards Summary for ACVR2A Gene:
ACVR2A (activin A receptor, type IIA) is a protein-coding gene. Diseases associated with ACVR2A include multiple synostoses syndrome. GO annotations related to this gene include PDZ domain binding and growth factor binding. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: AVR2A_HUMAN, P27037
Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane
serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate,
then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A

Gene Wiki entry for ACVR2A 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACVR2A gene promoter:
         Olf-1   Nkx2-5   NF-AT   FOXL1   AREB6   NF-AT4   S8   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACVR2A promoter sequence
   Search Chromatin IP Primers for ACVR2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACVR2A


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

Entrez Gene cytogenetic band: 2q22.3   Ensembl cytogenetic band:  2q22.3   HGNC cytogenetic band: 2q22.2-q23.3

ACVR2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR2A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P148602:  view genomic region     (about GC identifiers)

Start:
148,602,086 bp from pter      End:
148,688,393 bp from pter
Size:
86,308 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: AVR2A_HUMAN, P27037 (See protein sequence)
Recommended Name: Activin receptor type-2A precursor  
Size: 513 amino acids; 57848 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity)
3 PDB 3D structures from and Proteopedia for ACVR2A:
3Q4T (3D)        3SOC (3D)        4ASX (3D)    
Secondary accessions: B2RAB8 D3DP85 Q53TH4 Q6NWV2 Q92474

Explore the universe of human proteins at neXtProt for ACVR2A: NX_P27037

Explore proteomics data for ACVR2A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn43, Asn66
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACVR2A (P27037) (see all 27)
     QDKQSWQ  FCCCEGN  WLITAFH  VAVKIFP 


    See ACVR2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265508.1  NP_001265509.1  NP_001607.1  

    ENSEMBL proteins: 
     ENSP00000241416   ENSP00000384338   ENSP00000439988  
    Reactome Protein details: P27037

    ACVR2A Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for ACVR2A
    Sino Biological Cell Lysate for ACVR2A
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    Cloud-Clone Corp. Proteins for ACVR2A

     
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    ACVR2A Antibody Products:

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    (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 IIA
    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 P27037

    ProtoNet protein and cluster: P27037

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


    UniProtKB/Swiss-Prot: AVR2A_HUMAN, P27037
    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 ACVR2A           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: AVR2A_HUMAN, P27037
    Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane
    serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate,
    then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity EXP--
    GO:0004675transmembrane receptor protein serine/threonine kinase activity TAS1314589
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with ACVR2A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACVR2A:
     Decreased substrate adherent c  Increased apoptosis  Upregulation of Wnt/beta-caten 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Acvr2a):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     reproductive system  respiratory system  skeleton  vision/eye 

    Find genes that share phenotypes with ACVR2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACVR2A: Acvr2atm1Hsch Acvr2atm1Zuk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACVR2A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACVR2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACVR2A

    miRNA
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    miRTarBase miRNAs that target ACVR2A:
    hsa-mir-16-5p (MIRT000536), hsa-mir-186-5p (MIRT021134), hsa-mir-192-5p (MIRT026448), hsa-mir-10a-5p (MIRT025616)

    Block miRNA regulation of human, mouse, rat ACVR2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACVR2A (see all 113):
    hsa-miR-548j hsa-miR-607 hsa-miR-1321 hsa-miR-15a hsa-miR-199a-3p hsa-miR-128 hsa-miR-409-5p hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ACVR2A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACVR2A
    Predesigned siRNA for gene silencing in human, mouse, rat ACVR2A

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ACVR2A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACVR2A (NM_001616)
    Sino Biological Human cDNA Clone for ACVR2A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR2A
    Addgene plasmids for ACVR2A 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR2A


    (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
    AVR2A_HUMAN, P27037: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytoskeleton1
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA14738881
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1314589
    GO:0009986cell surface IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with ACVR2A           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 ACVR2A About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by NODAL
    Signaling by NODAL0.39
    Regulation of Signaling by NODAL0.00
    Signaling by Activin0.39
    2L1CAM interactions
    Developmental Biology0.63
    3Signaling by GPCR
    Signal Transduction0.58
    4PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    5Packaging Of Telomere Ends
    Signal transduction Activin A signaling regulation0.40


    Find genes that share SuperPaths with ACVR2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ACVR2A
        Factors Promoting Cardiogenesis in Vertebrates

    2 GeneGo (Thomson Reuters) Pathways for ACVR2A
        Signal transduction Activin A signaling regulation
    Development Role of Activin A in cell differentiation and proliferation

    1 BioSystems Pathway for ACVR2A
        ALK1 signaling events

    1 Sino Biological Pathway for ACVR2A
        TGF-beta Signaling Pathway

    4 Reactome Pathways for ACVR2A
        Signaling by Activin
    Signaling by NODAL
    Signaling by BMP
    Regulation of signaling by NODAL


    2 Kegg Pathways  (Kegg details for ACVR2A):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR2A: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACVR2A

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

    Selected Interacting proteins for ACVR2A (P270372, 3 ENSP000002414164) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXQ9UER73, ENSP000002660004I2D: score=1 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=1 
    ENSG00000206279Q9UER73I2D: score=1 
    ENSG00000227046Q9UER73I2D: score=1 
    ENSG00000231617Q9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0001934positive regulation of protein phosphorylation IMP17472960
    GO:0006468protein phosphorylation ----
    GO:0007178transmembrane receptor protein serine/threonine kinase signaling pathway TAS1314589
    GO:0007283spermatogenesis IEA--

    Find genes that share ontologies with ACVR2A           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACVR2A (AVR2A)

    4 HMDB Compounds for ACVR2A    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 ACVR2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 62.4 2 10652306 (1), 12665502 (1)
    serine 48 4 10746731 (1), 10652306 (1), 12665502 (1)
    ribonucleic acid 37.4 1 7962340 (1)
    alanine 24.7 4 10652306 (3), 16527838 (1)



    Find genes that share compounds with ACVR2A           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 ACVR2A gene (3 alternative transcripts): 
    NM_001278579.1  NM_001278580.1  NM_001616.4  

    Unigene Cluster for ACVR2A:

    Activin A receptor, type IIA
    Hs.470174  [show with all ESTs]
    Unigene Representative Sequence: NM_001616
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487959 ENST00000241416(uc002twg.3 uc010zbn.2 uc002twh.3)
    ENST00000462659 ENST00000404590 ENST00000465329 ENST00000495775 ENST00000535787

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACVR2A (see all 113):
    hsa-miR-548j hsa-miR-607 hsa-miR-1321 hsa-miR-15a hsa-miR-199a-3p hsa-miR-128 hsa-miR-409-5p hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ACVR2A 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ACVR2A (NM_001616)
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    Addgene plasmids for ACVR2A 
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      QuantiTect SYBR Green Assays in human, mouse, rat ACVR2A
      QuantiFast Probe-based Assays in human, mouse, rat ACVR2A

    Additional mRNA sequence: 

    AK301629.1 AK314124.1 BC067416.1 BC067417.1 BC067418.1 BC069707.1 D31770.1 M93415.1 
    X62381.1 X63128.1 

    9 DOTS entries:

    DT.91752473  DT.91735091  DT.91866420  DT.121032318  DT.121032222  DT.435266  DT.99958247  DT.116024 
    DT.429751 

    Selected AceView cDNA sequences (see all 79):

    BM503220 BC069707 CB144602 BQ008322 BC067418 BG616903 AI554024 CB142176 
    AL047127 X63128 X62381 BE856769 BX645435 BX281966 BC067417 CF271903 
    AA952974 BP371925 CF271908 BI914075 AI829731 W69802 BQ720564 AW044576 

    GeneLoc Exon Structure


    (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)
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    ACVR2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACVR2A Expression
    About this image


    ACVR2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     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
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    ACVR2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACVR2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470174
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR2A: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ACVR2A
    OriGene qSTAR qPCR primer pairs in human, mouse for ACVR2A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACVR2A
    QuantiTect SYBR Green Assays in human, mouse, rat ACVR2A
    QuantiFast Probe-based Assays in human, mouse, rat ACVR2A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR2A

    (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 ACVR2A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvr2a1 , 5 activin receptor IIA1, 5 94.61(n)1
    99.61(a)1
      2 (28.38 cM)5
    114801  NM_007396.41  NP_031422.31 
     488141095 
    chicken
    (Gallus gallus)
    Aves ACVR2A1 activin A receptor, type IIA 83.43(n)
    92.59(a)
      396324  NM_205367.1  NP_990698.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACVR2A6
    activin A receptor, type IIA
    92(a)
    1 ↔ 1
    GL343278.1(448337-512683)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10802 Activin receptor [Xenopus laevis, mRNA, 2315 nt] 79.37(n)    S70930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acvr2aa1 activin A receptor, type IIAa 69.79(n)
    78.95(a)
      553359  NM_001110278.1  NP_001103748.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta put1 punt 55.2(n)
    51.07(a)
      41772  NM_001275645.1  NP_001262574.1 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-16
    Protein DAF-1, isoform a (daf-1) mRNA, complete cd...
    21(a)
    many ↔ many
    IV(132416-138076) WBGene00000897


    ENSEMBL Gene Tree for ACVR2A (if available)
    TreeFam Gene Tree for ACVR2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACVR2A gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  TGFBR12  ACVR1B2  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    11 SIMAP similar genes for ACVR2A using alignment to 2 protein entries:     AVR2A_HUMAN (see all proteins):
    ACVR2B    H_YH98E06.1    TGFBR1    ACVR1B    TGFBR2    ACVR1
    BMPR2    ACVR1C    BMPR1B    BMPR1A    ACVRL1

    Find genes that share paralogs with ACVR2A           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 ACVR2A (see all 1375)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0328104
    A gastric adenocarcinoma sample4--see VAR_0328102 D N mis40--------
    rs1440841461,2
    C--148600677(+) AGTGA-/GAAGAC 1 -- us2k10--------
    rs1851724881,2
    --148600706(+) GTGGGA/TATCAG 1 -- us2k10--------
    rs14249541,2
    C,F,O,A,H--148600794(+) ACAGAG/AACTGT 1 -- us2k116Minor allele frequency- A:0.35EA NA NS WA CSA 664
    rs1414255581,2
    C--148600995(+) ACCAAC/GTGAAT 1 -- us2k10--------
    rs796197301,2
    C,F--148601069(+) TCCGTG/ACCTAG 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1899801101,2
    --148601139(+) TAAAAG/TTTTGA 1 -- us2k10--------
    rs1820022981,2
    --148601238(+) ATTACA/GTGCAA 1 -- us2k10--------
    rs1876599041,2
    --148601239(+) TTACGA/TGCAAA 1 -- us2k10--------
    rs1508149601,2
    --148601324(+) GCGTGA/GATATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACVR2A (148602086 - 148688393 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACVR2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1299810CNV Insertion17803354
    esv273299CNV Insertion20981092
    esv268425CNV Insertion20981092
    nsv875275CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 102581    OMIM disorders: --

    1 disease for ACVR2A:    
    About MalaCards
    multiple synostoses syndrome


    Find genes that share disorders with ACVR2A           About GenesLikeMe

    10 Novoseek inferred disease relationships for ACVR2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 50.5 1 12615714 (1)
    colon cancer 35.9 13 15520171 (2), 14988818 (2), 19293232 (1), 16380996 (1) (see all 6)
    preeclampsia 23.9 2 19126782 (1)
    pheochromocytoma 6.93 1 10810314 (1)
    colorectal cancer 4.08 3 14988818 (2), 17609433 (1)
    tumors 3.58 21 14988818 (3), 16380996 (3), 8636304 (2), 16337854 (2) (see all 9)
    ovarian cancer 0 1 11306176 (1)
    pancreatic cancer 0 3 12615714 (2), 9714055 (1)
    carcinoma 0 3 18077314 (1), 17121532 (1), 17478078 (1)
    cancer 0 2 14988818 (1), 9714055 (1)

    Genetic Association Database (GAD): ACVR2A
    Human Genome Epidemiology (HuGE) Navigator: ACVR2A (9 documents)

    Export disorders for ACVR2A 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)
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    PubMed articles for ACVR2A gene, integrated from 10 sources (see all 190):
    (articles sorted by number of sources associating them with ACVR2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and binding properties of the human type II activin receptor. (PubMed id 1314589)1, 2, 3 Donaldson C.J.... Vale W.W. (Biochem. Biophys. Res. Commun. 1992)
    2. Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996)1, 4, 9 Jung B....Carethers J.M. (Int. J. Cancer 2006)
    3. Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia. (PubMed id 19126782)1, 4, 9 Fitzpatrick E....Moses E.K. (Mol. Hum. Reprod. 2009)
    4. 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)
    5. 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)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)
    8. Family-based analysis of candidate genes for polycystic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (J. Clin. Endocrinol. Metab. 2010)
    9. Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3). (PubMed id 19574343)1, 4 Ahn J....Hayes R.B. (Hum. Mol. Genet. 2009)
    10. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)

    (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: 92 HGNC: 173 AceView: ACVR2 Ensembl:ENSG00000121989 euGenes: HUgn92
    ECgene: ACVR2A Kegg: 92 H-InvDB: ACVR2A

    (According to HUGE)
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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 ACVR2A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVR2A Genetics and Cytogenetics in Oncology and Haematology
    CGP resequencing studieshttp://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ACVR2

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

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    Patent Information for ACVR2A gene:
    Search GeneIP for patents involving ACVR2A

    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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