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Aliases for ACVR2A Gene

Aliases for ACVR2A Gene

  • Activin A Receptor, Type IIA 2 3
  • ACVR2 3 4 6
  • EC 2.7.11.30 4 64
  • Activin A Receptor, Type II 2
  • Activin Receptor Type IIA 4
  • Activin Receptor Type-2A 3
  • EC 2.7.11 64
  • ACTR-IIA 4
  • ACTRIIA 4
  • ACTRII 3

External Ids for ACVR2A Gene

Previous Symbols for ACVR2A Gene

  • ACVR2

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 IIA) is a Protein Coding gene. Diseases associated with ACVR2A include multiple synostoses syndrome. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include PDZ domain binding and growth factor binding. 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

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

Genomic Location for ACVR2A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVR2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR2A Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn43 and Asn66

Other Protein References for ACVR2A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ACVR2A Gene

UniProtKB/Swiss-Prot:

AVR2A_HUMAN
Domain:
  • Contains 1 protein kinase domain.:
    • P27037
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • P27037
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

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 --
GO:0004674 protein serine/threonine kinase activity EXP --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity TAS 1314589
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
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:

miRNA for ACVR2A Gene

No data available for Transcription Factor Targeting 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 4
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: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 --
genes like me logo Genes that share ontologies with ACVR2A: view

Pathways for ACVR2A Gene

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

Pathways by source for ACVR2A Gene

1 Sino Biological pathway for ACVR2A Gene
1 Qiagen pathway for ACVR2A Gene

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

Compounds for ACVR2A Gene

(4) HMDB Compounds for ACVR2A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(4) Novoseek inferred chemical compound relationships for ACVR2A Gene

Compound -log(P) Hits PubMed IDs
threonine 62.4 2
serine 48 3
ribonucleic acid 37.4 1
alanine 24.7 4
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

Integrated Proteomics: protein expression 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 expressions with ACVR2A: view

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 36
  • 99.81 (n)
  • 99.8 (a)
ACVR2A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR2A 36
  • 95.19 (n)
  • 98.64 (a)
ACVR2A 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR2A 36
  • 95.26 (n)
  • 98.83 (a)
ACVR2A 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr2a 36
  • 94.61 (n)
  • 99.61 (a)
Acvr2a 16
Acvr2a 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR2A 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR2A 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr2a 36
  • 94.02 (n)
  • 99.42 (a)
chicken
(Gallus gallus)
Aves ACVR2A 36
  • 83.43 (n)
  • 92.59 (a)
ACVR2A 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR2A 37
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1080 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr2a 36
  • 75.31 (n)
  • 88.3 (a)
zebrafish
(Danio rerio)
Actinopterygii acvr2aa 36
  • 69.79 (n)
  • 78.95 (a)
acvr2aa 37
  • 80 (a)
OneToMany
acvr2ab 37
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000763 36
  • 53.65 (n)
  • 53.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta put 36
  • 55.2 (n)
  • 51.07 (a)
put 37
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-1 37
  • 21 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12636 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9355 37
  • 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

Selected 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 MAF
rs13224 -- 147,845,115(+) ATCTA(G/T)CGAGA utr-variant-5-prime, intron-variant
rs714879 -- 147,867,458(-) TGACA(A/G)AACTT intron-variant
rs723681 -- 147,910,940(-) TATGT(A/G)CGTGC intron-variant
rs929939 -- 147,869,959(-) TAATT(G/T)ACCCT intron-variant
rs929940 -- 147,864,261(-) CACAG(A/T)TAGAC intron-variant

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

Relevant External Links for ACVR2A Gene

HapMap Linkage Disequilibrium report
ACVR2A

Disorders for ACVR2A Gene

(10) Novoseek inferred disease relationships for ACVR2A Gene

Disease -log(P) Hits PubMed IDs
microsatellite instability 50.5 1
colon cancer 35.9 8
preeclampsia 23.9 1
pheochromocytoma 6.93 1
colorectal cancer 4.08 3

Relevant External Links for ACVR2A

Genetic Association Database (GAD)
ACVR2A
Human Genome Epidemiology (HuGE) Navigator
ACVR2A
genes like me logo Genes that share disorders with ACVR2A: view

No data available for UniProtKB/Swiss-Prot 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 J.M. (Int. J. Cancer 2006) 3 23 49
  2. 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
  3. Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia. (PMID: 19126782) Fitzpatrick E. … Moses E.K. (Mol. Hum. Reprod. 2009) 3 23 49
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. 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

Products for ACVR2A Gene

Sources for ACVR2A Gene

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