Gene Gene information from NCBI Gene database.
Entrez ID 93
Gene name Activin A receptor type 2B
Gene symbol ACVR2B
Synonyms (NCBI Gene)
ACTRIIBActR-IIBHTX4
Chromosome 3
Chromosome location 3p22.2
Summary 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 i
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121434438 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1537
miRTarBase ID miRNA Experiments Reference
MIRT006339 hsa-miR-192-5p Luciferase reporter assayWestern blot 22431721
MIRT006339 hsa-miR-192-5p Luciferase reporter assayWestern blot 22431721
MIRT006339 hsa-miR-192-5p Luciferase reporter assayWestern blot 22431721
MIRT006340 hsa-miR-215-5p Luciferase reporter assayWestern blot 22431721
MIRT006340 hsa-miR-215-5p Luciferase reporter assayWestern blot 22431721
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 18326817
GO:0000166 Function Nucleotide binding IEA
GO:0001501 Process Skeletal system development IEA
GO:0001702 Process Gastrulation with mouth forming second IEA
GO:0001822 Process Kidney development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602730 174 ENSG00000114739
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13705
Protein name Activin receptor type-2B (EC 2.7.11.30) (Activin receptor type IIB) (ACTR-IIB)
Protein function Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytopla
PDB 2H62 , 2QLU , 4FAO , 5NGV , 5NHR , 7MRZ , 7OLY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 15 113 Activin types I and II receptor domain Domain
PF00069 Pkinase 193 477 Protein kinase domain Domain
Sequence
Sequence length 512
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.).
12
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Heterotaxy, visceral, 4, autosomal Likely pathogenic rs1710030273, rs1559655653 RCV001324509
RCV000754875
★★★★☆
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
ACVR2B-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar
★★☆☆☆
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
Asplenia Syndrome Asplenia CTD_human_DG 9916847
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17004110
★☆☆☆☆
Found in Text Mining only
Cachexia Cachexia Pubtator 31271588 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31886217 Stimulate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular abnormalities Pubtator 21864452 Associate
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19638618, 22465712 Associate
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 30044042
★☆☆☆☆
Found in Text Mining only
Dextrocardia Dextrocardia HPO_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 11334431
★☆☆☆☆
Found in Text Mining only