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

ACVR2A Gene

protein-coding   GIFtS: 67
GCID: GC02P148602

activin A receptor, type IIA

(Previous names: activin A receptor, type II )
(Previous symbol: ACVR2)
 Explore 30 diseases affiliated with
ACVR2A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACVR2A    

Aliases
for ACVR2A 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 IIA1 2     Activin Receptor Type-2A2
ACVR21 2 3 5     ACTR-IIA3
ACTRII1 2     ACTRIIA3
EC 2.7.11.303 8     Activin Receptor Type IIA3
Activin A Receptor, Type II1     EC 2.7.118

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

Export aliases for ACVR2A gene to outside databases

Previous GC identifers: GC02P148437 GC02P148319 GC02P140599


Summaries
for ACVR2A 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 ACVR2A:
This gene encodes activin A type II receptor. 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. (provided by RefSeq, Jul 2008)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences 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 plasmid: ACVR2A promoter sequence
   Search SABiosciences Chromatin IP Primers for ACVR2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ACVR2A 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: 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)
Subcellular location: Membrane; Single-pass type I membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P27037

    • 4/27 DME Specific Peptides for ACVR2A (P27037) (see all 27)
     QDKQSWQ  FCCCEGN  WLITAFH  VAVKIFP 

    ACVR2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001607.1  
    ENSEMBL proteins: 
     ENSP00000241416   ENSP00000384338   ENSP00000439988  
    Reactome Protein details: P27037
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ACVR2A (Activin RIIA)
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: ACVR2A
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    Novus Biologicals ACVR2A Proteins
    Novus Biologicals ACVR2A Lysate
    Sino Biological Recombinant Protein for ACVR2A
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACVR2A

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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


    ACVR2A for ontologies           About GeneDecksing



    ACVR2A Antibody Products: 
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    Uscn ELISAs and CLIAs for ACVR2A

    Protein Domains /
    Families
    for ACVR2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACVR2A 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 P27037

    ProtoNet protein and cluster: P27037

    2 Blocks protein families:
    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


    Function
    for ACVR2A 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: 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

    miRNA
    Products:            		miRTarBase miRNAs that target ACVR2A:
    hsa-mir-16 (MIRT000536)

    OriGene 3'-UTR Clone: ACVR2A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVR2A
    8/113 QIAGEN miScript miRNA 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:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVR2A (see all 7)
    OriGene shRNA RFP: ACVR2A
    OriGene siRNA: ACVR2A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR2A

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR2A 

    Cell Line
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    Search LifeMap BioReagents cell lines for ACVR2A

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

    Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005515contributes to protein binding IPI10746731


    ACVR2A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for ACVR2A: Acvr2atm1Hsch Acvr2atm1Zuk
         14 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Acvr2a):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging  nervous system 
     reproductive system  respiratory system  skeleton  vision/eye 

    ACVR2A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACVR2A 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 - 5/9 super-pathways (see all 9) 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
    2Signal transduction Activin A signaling regulation
    		Signal transduction Activin A signaling regulation1.00
    		Signal transduction_Activin A signaling regulation0.96
    3PKA 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
    4ALK1 signaling events
    		ALK1 signaling events1.00
    5TGF-beta signaling pathway
    		TGF-beta signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ACVR2A
        Development Role of Activin A in cell differentiation and proliferation
    Signal transduction Activin A signaling regulation


    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

    5/6        Reactome Pathways for ACVR2A (see all 6)
        Signaling by Activin
    Developmental Biology
    Signal Transduction
    Signaling by NODAL
    Regulation of Signaling by NODAL


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


    ACVR2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVR2A

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

    5/40 Interacting proteins for ACVR2A (P270372, 3 ENSP000002414164) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGI2Q86UL83, ENSP000003461514I2D: score=3 STRING: ENSP00000346151
    SYNJ2BPP571053, ENSP000002563664I2D: score=3 STRING: ENSP00000256366
    ACVR1BP368963, ENSP000002579634I2D: score=2 STRING: ENSP00000257963
    GDF5P430263, ENSP000003634894I2D: score=2 STRING: ENSP00000363489
    INHBBP095293, ENSP000002952284I2D: score=2 STRING: ENSP00000295228
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0001934positive regulation of protein phosphorylation IMP17472960
    GO:0007178transmembrane receptor protein serine/threonine kinase signaling pathway TAS1314589
    GO:0007283spermatogenesis IEA--
    GO:0007368determination of left/right symmetry IEA--


    ACVR2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACVR2A 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

    ACVR2A for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACVR2A

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ACVR2A / AVR2A 

    Transcripts
    for ACVR2A 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 ACVR2A gene: 
    NM_001616.3  

    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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    8/113 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVR2A (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR2A
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVR2A
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    Additional cDNA 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 

    24/79 AceView cDNA sequences (see all 79):

    AL047127 BC069707 BC067417 BX645435 BM503220 BC067418 BE856769 X62381 
    AI554024 BX281966 BQ008322 BG616903 CB144602 CB142176 X63128 AI433757 
    CF271904 AI765370 AW162986 BX485334 AI636265 D31770 CF271903 AA952974 

    GeneLoc Exon Structure


    Expression
    for ACVR2A 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

    ACVR2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    ACVR2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 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
    TrophoblastExtraembryonic EctodermExtraembryonic Ectoderm CellsExtraembryonic Tissues, Placenta
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

    See ACVR2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACVR2A

    SOURCE GeneReport for Unigene cluster: Hs.470174
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACVR2A: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACVR2A
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    QIAGEN 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
    for ACVR2A 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 ACVR2A gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343278.1(450790-484996)
    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 55.39(n)
    50.43(a)    		   41772  NM_169591.2  NP_731926.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-46
    		 Cell surface receptor daf-4
    		 19(a)
    		 1 → many
    		 III(5624972-5632277)


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

    Paralogs
    for ACVR2A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACVR2A gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2B2  ACVR1B2  TGFBR12  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

    ACVR2A for paralogs           About GeneDecksing



    Genomic Variants
    for ACVR2A 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

    10/1189 NCBI SNPs in ACVR2A are shown (see all 1189)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1147104511,2
    		C,F,--140685543(+) TTGGTA/TAGCAG 6 -- ut311Minor allele frequency- T:0.02NA 120
    rs10470811,2
    		H--140685672(+) ACCCCA/CCCTTG 6 -- ut316Minor allele frequency- C:0.02MN NS EA NA 604
    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
    		--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--------

    HapMap Linkage Disequilibrium report for ACVR2A (148602086 - 148688393 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ACVR2A
         2 CNVs: 90068 90069

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    Disorders / Diseases
    for ACVR2A 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
    ACVR2A for disorders           About GeneDecksing

    OMIM gene information: 102581    OMIM disorders: --

    20/30 diseases for ACVR2A (see all 30):    About MalaCards
    maturity-onset diabetes of the young    maturity-onset diabetes of the young, type 2    pre-eclampsia    traumatic brain injury
    brain injury    primary pulmonary hypertension    pulmonary hypertension    epithelial ovarian cancer
    pituitary adenoma    ovarian cancer    eclampsia    pheochromocytoma
    pituitary tumor    embryonal carcinoma    goiter    colon cancer
    pancreatic cancer    hypertension    colorectal cancer    adenoma

    10 Novoseek 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

    Publications
    for ACVR2A 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 ACVR2A gene, integrated from 9 sources (see all 167):
    (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. (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. (2006)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. 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)
    5. Assignment of ACVR2 and ACVR2B the human activin rece ptor type II and IIB genes to chromosome bands 2q22.2-->q23.3 and 3p22 and t he human follistatin gene (FST) to chromosome 5q11.2 by FISH. (PubMed id 10702675)1, 3 Bondestam J....Aaltonen J. (1999)
    6. Cloning of the human activin receptor cDNA reveals high evolutionary conservation. (PubMed id 1311955)1, 2 Matzuk M.M. and Bradley A. (1992)
    7. Loss of activin receptor type 2 protein expression in microsatellite unstable colon cancers. (PubMed id 14988818)1, 9 Jung B....Carethers J.M. (2004)
    8. Truncating mutations in the ACVR2 gene attenuates activin signaling in prostate cancer cells. (PubMed id 16337854)1, 9 Rossi M.R....Cowell J.K. (2005)
    9. Activin type 2 receptor restoration in MSI-H colon cancer suppresses growth and enhances migration with activin. (PubMed id 17258738)1, 9 Jung B.H....Carethers J.M. (2007)
    10. Repulsive guidance molecule RGMa alters utilization of bone morphogenetic protein (BMP) type II receptors by BMP2 and BMP4. (PubMed id 17472960)1, 9 Xia Y....Lin H.Y. (2007)

    External Searches for ACVR2A 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 ACVR2A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92 HGNC: 173 AceView: ACVR2 Ensembl:ENSG00000121989 euGenes: HUgn92
    ECgene: ACVR2A Kegg: 92 H-InvDB: ACVR2A

    Other Databases showing ACVR2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACVR2A 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 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

    Intellectual Property
    for ACVR2A gene

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



    Products
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    About This Section

     
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