Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93
Gene name Gene Name - the full gene name approved by the HGNC.
Activin A receptor type 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACVR2B
Synonyms (NCBI Gene) Gene synonyms aliases
ACTRIIB, ActR-IIB, HTX4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs121434438 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006339 hsa-miR-192-5p Luciferase reporter assay, Western blot 22431721
MIRT006339 hsa-miR-192-5p Luciferase reporter assay, Western blot 22431721
MIRT006339 hsa-miR-192-5p Luciferase reporter assay, Western blot 22431721
MIRT006340 hsa-miR-215-5p Luciferase reporter assay, Western blot 22431721
MIRT006340 hsa-miR-215-5p Luciferase reporter assay, Western blot 22431721
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602730 174 ENSG00000114739
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Heterotaxy, Visceral heterotaxy, visceral, 4, autosomal rs1559655653 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomyosis Associate 26086422
Cachexia Associate 31271588
Carcinoma Hepatocellular Stimulate 31886217
Cardiovascular Abnormalities Associate 21864452
Colorectal Neoplasms Associate 19638618, 22465712
Fibrosis Associate 40355814
Heart Diseases Associate 21864452
Heterotaxy Syndrome Associate 21864452
Infertility Associate 26086422
Muscular Atrophy Associate 31271588