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Aliases for ACVR2A Gene

Aliases for ACVR2A Gene

  • Activin A Receptor Type 2A 2 3 5
  • Activin A Receptor, Type IIA 2 3
  • ACVR2 3 4
  • Activin A Receptor, Type II 2
  • Activin Receptor Type IIA 4
  • Activin Receptor Type-2A 3
  • EC 2.7.11.30 4
  • 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 and Pre-Eclampsia. Among its related pathways are TGF-beta signaling pathway (KEGG) and ALK1 signaling events. Gene Ontology (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 ACVR2B.

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

Additional gene information for ACVR2A Gene

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

Genomics for ACVR2A Gene

GeneHancer (GH) Regulatory Elements for ACVR2A Gene

Promoters and enhancers for ACVR2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J147843 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655.5 +0.6 649 3.7 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 SP3 ACVR2A GC02M147843 ORC4 GC02P147878
GH02J147809 Enhancer 1.1 Ensembl ENCODE 21.6 -34.7 -34716 0.4 ELF3 FOXA2 MLX ZBTB40 ZSCAN9 RARA ETS1 GTF3C2 ATF7 FOS GC02P147810 ACVR2A RPL26P14
GH02J147689 Enhancer 1 FANTOM5 Ensembl 21.7 -154.8 -154794 1 BACH1 BMI1 BATF IRF4 RELA EED ATF7 IKZF2 RUNX3 CREM ACVR2A ORC4 GC02M147665 GC02P147669
GH02J147635 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.7 -208.2 -208209 2.2 HDGF PKNOX1 BATF RELA EED NFATC1 ATF7 IKZF2 CREM RUNX3 ACVR2A ORC4 GC02M147592 GC02P147666
GH02J148259 Enhancer 0.8 FANTOM5 20.5 +415.3 415309 0.3 BACH1 CHAMP1 ZNF316 RBAK ZNF26 ZNF169 ZNF143 NFE2 ATF7 TRIM24 ENSG00000212181 GC02M148261 ACVR2A EPC2 GC02M148193 MBD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACVR2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACVR2A gene promoter:
  • Nkx2-5
  • S8
  • AREB6
  • Olf-1
  • FOXL1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for ACVR2A Gene

Genomic Locations for ACVR2A Gene
chr2:147,844,517-147,930,827
(GRCh38/hg38)
Size:
86,311 bases
Orientation:
Plus strand
chr2:148,602,086-148,688,393
(GRCh37/hg19)
Size:
86,308 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

Post-translational modifications for ACVR2A Gene

  • Glycosylation at Asn66 and Asn43
  • 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)

No data available for DME Specific Peptides for ACVR2A Gene

Domains & Families for ACVR2A Gene

Gene 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 :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Enzyme Numbers (IUBMB) for ACVR2A Gene

Phenotypes From GWAS Catalog 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:0004674 protein serine/threonine kinase activity EXP 8622651
GO:0004675 transmembrane receptor protein serine/threonine kinase activity TAS 1314589
GO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
GO:0005515 contributes_to protein binding IPI 10746731
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

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACVR2A gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACVR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 14738881
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1314589
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
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

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:0001934 positive regulation of protein phosphorylation IMP 17472960
GO:0006468 protein phosphorylation IEA --
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway TAS 1314589
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with ACVR2A: view

Drugs & Compounds for ACVR2A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
Sotatercept Investigational Pharma Target Others 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
ACE-011 Pharma inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ACVR2A: view

Transcripts for ACVR2A Gene

mRNA/cDNA for ACVR2A Gene

Unigene Clusters for ACVR2A Gene

Activin A receptor, type IIA:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ACVR2A Gene



Protein tissue co-expression partners for ACVR2A Gene

NURSA nuclear receptor signaling pathways regulating expression of ACVR2A Gene:

ACVR2A

SOURCE GeneReport for Unigene cluster for ACVR2A Gene:

Hs.470174

Evidence on tissue expression from TISSUES for ACVR2A Gene

  • Nervous system(4.6)
  • Intestine(4.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ACVR2A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ACVR2A 34 33
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR2A 34 33
  • 95.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR2A 34 33
  • 95.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR2A 34
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr2a 16 34 33
  • 94.61 (n)
rat
(Rattus norvegicus)
Mammalia Acvr2a 33
  • 94.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR2A 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR2A 34 33
  • 83.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR2A 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr2a 33
  • 75.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1080 33
zebrafish
(Danio rerio)
Actinopterygii acvr2ab 34
  • 73 (a)
OneToMany
acvr2aa 34 33
  • 69.79 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta put 34 33
  • 55.2 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000763 33
  • 53.65 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-1 34
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9355 34
  • 39 (a)
OneToMany
Cin.12636 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12636 33
Species where no ortholog for ACVR2A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACVR2A: view image

Paralogs for ACVR2A Gene

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

  • AVR2A_HUMAN
  • B4DWQ2_HUMAN
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 Variation AA Info Type
rs764255410 A gastric adenocarcinoma sample 147,918,546(+) G/A coding_sequence_variant, missense_variant
rs1000016806 -- 147,878,678(+) G/A intron_variant
rs1000024278 -- 147,882,060(+) A/G intron_variant
rs1000095860 -- 147,853,501(+) G/T intron_variant
rs1000118055 -- 147,906,451(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv955261 CNV duplication 24416366
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)

Additional Variant Information for ACVR2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACVR2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR2A Gene

Disorders for ACVR2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACVR2A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple synostoses syndrome
  • symphalangism-brachydactyly syndrome
pre-eclampsia
  • toxemia of pregnancy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACVR2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PMID: 16380996) Jung B … Carethers JM (International journal of cancer 2006) 3 22 44 58
  2. Molecular cloning and binding properties of the human type II activin receptor. (PMID: 1314589) Donaldson CJ … Vale WW (Biochemical and biophysical research communications 1992) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. 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. (PMID: 20634197) Canzian F … Feigelson HS (Human molecular genetics 2010) 3 44 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for ACVR2A Gene

Sources for ACVR2A Gene

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