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ACVR2B (activin A receptor type 2B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93
Gene nameGene Name - the full gene name approved by the HGNC.
Activin A receptor type 2B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ACVR2B
SynonymsGene synonyms aliases
ACTRIIB, ActR-IIB, HTX4
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434438 G>A Pathogenic Missense variant, coding sequence variant
miRNAmiRNA 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:0001946 Process Lymphangiogenesis ISS
GO:0001974 Process Blood vessel remodeling ISS
GO:0004674 Function Protein serine/threonine kinase activity EXP 8622651, 8721982
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Atrial isomerism Right Atrial Isomerism rs121434422, rs606231383, rs1555702261, rs753643819 9916847
Dextrocardia Dextrocardia rs1555672928
Heterotaxia Heterotaxy Syndrome rs200321595, rs775946081, rs1060501464, rs1560086701 9916847
Heterotaxy, visceral HETEROTAXY, VISCERAL, 4, AUTOSOMAL rs104893611, rs863223280, rs2144412496, rs375801610, rs528302390, rs878855044, rs145119918, rs886041273, rs137955225, rs1559655653, rs1564667180, rs1564667617, rs1447874899, rs145789868, rs1312300020, rs1564667078, rs1589152470, rs753911740 9916847
Unknown
Disease name Disease term dbSNP ID References
Asplenia Asplenia Syndrome 9916847
Ciliopathies Ciliopathies
Ectopic spleen Ectopic spleen
Left atrial isomerism Left Atrial Isomerism 9916847

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