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Aliases for ACVR2A Gene

Aliases for ACVR2A Gene

  • Activin A Receptor Type 2A 2 3
  • Activin A Receptor, Type IIA 2 3
  • Activin A Receptor Type IIA 3 5
  • EC 2.7.11.30 4 63
  • ACVR2 3 4
  • Activin A Receptor, Type II 2
  • Activin Receptor Type IIA 4
  • EC 2.7.11 63
  • ACTR-IIA 4
  • ACTRIIA 4
  • ACTRII 3

External Ids for ACVR2A Gene

Previous HGNC Symbols for ACVR2A Gene

  • ACVR2

Previous GeneCards Identifiers for ACVR2A Gene

  • GC02P148437
  • GC02P148319
  • GC02P148602
  • GC02P140599

Summaries for ACVR2A Gene

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 2A) is a Protein Coding gene. Diseases associated with ACVR2A include Multiple Synostoses Syndrome. Among its related pathways are Signaling by NODAL and Developmental Biology. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for ACVR2A Gene

  • 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. Mediates induction of adipogenesis by GDF6 (By similarity).

Gene Wiki entry for ACVR2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR2A Gene

Genomics for ACVR2A Gene

Regulatory Elements for ACVR2A Gene

Enhancers for ACVR2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACVR2A on UCSC Golden Path with GeneCards custom track

Promoters for ACVR2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACVR2A on UCSC Golden Path with GeneCards custom track

Genomic Location for ACVR2A Gene

Chromosome:
2
Start:
147,844,517 bp from pter
End:
147,930,827 bp from pter
Size:
86,311 bases
Orientation:
Plus strand

Genomic View for ACVR2A Gene

Genes around ACVR2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR2A Gene

Proteins for ACVR2A Gene

  • Protein details for ACVR2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27037-AVR2A_HUMAN
    Recommended name:
    Activin receptor type-2A
    Protein Accession:
    P27037
    Secondary Accessions:
    • B2RAB8
    • B4DWQ2
    • D3DP85
    • Q53TH4
    • Q6NWV2
    • Q92474

    Protein attributes for ACVR2A Gene

    Size:
    513 amino acids
    Molecular mass:
    57848 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ACVR2A Gene

    Alternative splice isoforms for ACVR2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACVR2A Gene

Proteomics data for ACVR2A Gene at MOPED

Post-translational modifications for ACVR2A Gene

  • Glycosylation at Asn 43 and Asn 66
  • Modification sites at PhosphoSitePlus

Other Protein References for ACVR2A Gene

Antibody Products

  • R&D Systems Antibodies for ACVR2A (Activin RIIA)
  • R&D Systems Antibodies for ACVR2A (Activin RIIA/B)

Domains & Families for ACVR2A Gene

Suggested Antigen Peptide Sequences for ACVR2A Gene

Graphical View of Domain Structure for InterPro Entry

P27037

UniProtKB/Swiss-Prot:

AVR2A_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVR2A: view

Function for ACVR2A Gene

Molecular function for ACVR2A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot 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. Mediates induction of adipogenesis by GDF6 (By similarity).

Enzyme Numbers (IUBMB) for ACVR2A Gene

Gene Ontology (GO) - Molecular Function for ACVR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity TAS 1314589
GO:0015026 coreceptor activity IDA 10746731
GO:0017002 contributes_to activin-activated receptor activity IDA 12665502
GO:0034711 inhibin binding IEA --
genes like me logo Genes that share ontologies with ACVR2A: view
genes like me logo Genes that share phenotypes with ACVR2A: view

Animal Models for ACVR2A Gene

MGI Knock Outs for ACVR2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACVR2A

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACVR2A Gene

Localization for ACVR2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR2A Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVR2A Gene COMPARTMENTS Subcellular localization image for ACVR2A gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACVR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0034673 inhibin-betaglycan-ActRII complex IDA 10746731
genes like me logo Genes that share ontologies with ACVR2A: view

Pathways & Interactions for ACVR2A Gene

genes like me logo Genes that share pathways with ACVR2A: view

Pathways by source for ACVR2A Gene

SIGNOR curated interactions for ACVR2A Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ACVR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001702 gastrulation with mouth forming second IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway TAS 1314589
GO:0007368 determination of left/right symmetry IEA --
GO:0007498 mesoderm development IEA --
genes like me logo Genes that share ontologies with ACVR2A: view

Drugs & Compounds for ACVR2A Gene

(8) Drugs for ACVR2A Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
ACE-011 Pharma inhibitor 0
Sotatercept Pharma Others 0
Manganese Pharma 32
Magnesium Nutra 0

(2) Additional Compounds for ACVR2A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ACVR2A: view

Transcripts for ACVR2A Gene

Unigene Clusters for ACVR2A Gene

Activin A receptor, type IIA:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR2A Gene

No ASD Table

Relevant External Links for ACVR2A Gene

GeneLoc Exon Structure for
ACVR2A
ECgene alternative splicing isoforms for
ACVR2A

Expression for ACVR2A Gene

mRNA expression in normal human tissues for ACVR2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR2A Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACVR2A Gene



SOURCE GeneReport for Unigene cluster for ACVR2A Gene Hs.470174

genes like me logo Genes that share expression patterns with ACVR2A: view

Protein tissue co-expression partners for ACVR2A Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACVR2A Gene

Orthologs for ACVR2A Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACVR2A 35
  • 95.19 (n)
  • 98.64 (a)
ACVR2A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR2A 35
  • 95.26 (n)
  • 98.83 (a)
ACVR2A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr2a 35
  • 94.61 (n)
  • 99.61 (a)
Acvr2a 16
Acvr2a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACVR2A 35
  • 99.81 (n)
  • 99.8 (a)
ACVR2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr2a 35
  • 94.02 (n)
  • 99.42 (a)
oppossum
(Monodelphis domestica)
Mammalia ACVR2A 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR2A 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR2A 35
  • 83.43 (n)
  • 92.59 (a)
ACVR2A 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR2A 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr2a 35
  • 75.31 (n)
  • 88.3 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1080 35
zebrafish
(Danio rerio)
Actinopterygii acvr2aa 35
  • 69.79 (n)
  • 78.95 (a)
acvr2aa 36
  • 80 (a)
OneToMany
acvr2ab 36
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000763 35
  • 53.65 (n)
  • 53.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta put 35
  • 55.2 (n)
  • 51.07 (a)
put 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-1 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12636 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9355 36
  • 39 (a)
OneToMany
Species with no ortholog for ACVR2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVR2A Gene

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

Paralogs for ACVR2A Gene

(11) SIMAP similar genes for ACVR2A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACVR2A: view

Variants for ACVR2A Gene

Sequence variations from dbSNP and Humsavar for ACVR2A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs34917571 - 147,917,384(+) ACCAG(G/T)GTTGA reference, missense
VAR_032810 A gastric adenocarcinoma sample
VAR_064692 -
rs723681 -- 147,910,940(-) TATGT(A/G)CGTGC intron-variant
rs1803029 -- 147,927,404(+) GAAGA(A/C)CCTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ACVR2A Gene

Variant ID Type Subtype PubMed ID
nsv875275 CNV Gain 21882294
esv268425 CNV Insertion 20981092
esv273299 CNV Insertion 20981092
esv1299810 CNV Insertion 17803354

Variation tolerance for ACVR2A Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.95% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ACVR2A Gene

Disorders for ACVR2A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACVR2A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple synostoses syndrome
  • multiple synostosis syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ACVR2A

Genetic Association Database (GAD)
ACVR2A
Human Genome Epidemiology (HuGE) Navigator
ACVR2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR2A
genes like me logo Genes that share disorders with ACVR2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACVR2A Gene

Publications for ACVR2A Gene

  1. Molecular cloning and binding properties of the human type II activin receptor. (PMID: 1314589) Donaldson C.J. … Vale W.W. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 67
  2. Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells. (PMID: 19366699) Upton P.D. … Morrell N.W. (J. Biol. Chem. 2009) 3 23
  3. Activin A, activin receptor type II, nodal, and cripto mRNA are expressed by eutopic and ectopic endometrium in women with ovarian endometriosis. (PMID: 19386982) Torres P.B. … Petraglia F. (Reprod Sci 2009) 3 23
  4. Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin. (PMID: 18326817) Xia Y. … Lin H.Y. (Blood 2008) 3 23
  5. Activin type 2 receptor restoration in MSI-H colon cancer suppresses growth and enhances migration with activin. (PMID: 17258738) Jung B.H. … Carethers J.M. (Gastroenterology 2007) 3 23

Products for ACVR2A Gene

Sources for ACVR2A Gene

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