Gene Gene information from NCBI Gene database.
Entrez ID 92
Gene name Activin A receptor type 2A
Gene symbol ACVR2A
Synonyms (NCBI Gene)
ACTRIIACVR2
Chromosome 2
Chromosome location 2q22.3-q23.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
799
miRTarBase ID miRNA Experiments Reference
MIRT000536 hsa-miR-16-5p ReviewLuciferase reporter assayWestern blot 20216554
MIRT021134 hsa-miR-186-5p Sequencing 20371350
MIRT025616 hsa-miR-10a-5p Sequencing 20371350
MIRT026448 hsa-miR-192-5p Microarray 19074876
MIRT568636 hsa-miR-561-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001649 Process Osteoblast differentiation IDA 18436533, 34948289
GO:0001649 Process Osteoblast differentiation IDA 18436533
GO:0001702 Process Gastrulation with mouth forming second IEA
GO:0001934 Process Positive regulation of protein phosphorylation IMP 17472960
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102581 173 ENSG00000121989
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27037
Protein name Activin receptor type-2A (EC 2.7.11.30) (Activin receptor type IIA) (ACTR-IIA) (ACTRIIA)
Protein 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 trans
PDB 3Q4T , 3SOC , 4ASX , 5NH3 , 7U5P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 23 114 Activin types I and II receptor domain Domain
PF00069 Pkinase 196 481 Protein kinase domain Domain
Sequence
Sequence length 513
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis
  Signaling by Activin
Signaling by BMP
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alport Syndrome Alport Syndrome BEFREE 28843411
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 16380996, 17258738 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 32652377 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27106170
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 27666759
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 7670558 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17004110
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29114882, 35589867 Associate
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Bronchiectasis Pubtator 40536885 Associate
★☆☆☆☆
Found in Text Mining only