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Gene: ACVR2B |
Gene summary for ACVR2B |
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Gene information | Species | Human | Gene symbol | ACVR2B | Gene ID | 93 |
Gene name | activin A receptor type 2B | |
Gene Alias | ACTRIIB | |
Cytomap | 3p22.2 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q13705 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
93 | ACVR2B | HCC1_Meng | Human | Liver | HCC | 6.55e-46 | 1.09e-01 | 0.0246 |
93 | ACVR2B | cirrhotic3 | Human | Liver | Cirrhotic | 7.74e-04 | 1.48e-01 | 0.0215 |
93 | ACVR2B | S014 | Human | Liver | HCC | 1.42e-13 | 5.62e-01 | 0.2254 |
93 | ACVR2B | S015 | Human | Liver | HCC | 1.35e-11 | 7.17e-01 | 0.2375 |
93 | ACVR2B | S016 | Human | Liver | HCC | 6.71e-13 | 4.58e-01 | 0.2243 |
93 | ACVR2B | S028 | Human | Liver | HCC | 8.81e-09 | 3.60e-01 | 0.2503 |
93 | ACVR2B | S029 | Human | Liver | HCC | 4.92e-02 | 2.43e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00016495 | Liver | Cirrhotic | osteoblast differentiation | 80/4634 | 229/18723 | 3.39e-04 | 2.91e-03 | 80 |
GO:00015035 | Liver | Cirrhotic | ossification | 127/4634 | 408/18723 | 1.89e-03 | 1.19e-02 | 127 |
GO:00031586 | Liver | Cirrhotic | endothelium development | 49/4634 | 136/18723 | 2.14e-03 | 1.32e-02 | 49 |
GO:00487711 | Liver | Cirrhotic | tissue remodeling | 60/4634 | 175/18723 | 2.86e-03 | 1.65e-02 | 60 |
GO:000717811 | Liver | Cirrhotic | transmembrane receptor protein serine/threonine kinase signaling pathway | 111/4634 | 355/18723 | 2.98e-03 | 1.70e-02 | 111 |
GO:00454465 | Liver | Cirrhotic | endothelial cell differentiation | 43/4634 | 118/18723 | 3.03e-03 | 1.72e-02 | 43 |
GO:010610611 | Liver | HCC | cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:012016111 | Liver | HCC | regulation of cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:000164911 | Liver | HCC | osteoblast differentiation | 115/7958 | 229/18723 | 1.08e-02 | 3.99e-02 | 115 |
GO:199084511 | Liver | HCC | adaptive thermogenesis | 81/7958 | 157/18723 | 1.32e-02 | 4.72e-02 | 81 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541822 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
hsa0541832 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
hsa0541842 | Liver | HCC | Fluid shear stress and atherosclerosis | 89/4020 | 139/8465 | 5.58e-05 | 2.88e-04 | 1.60e-04 | 89 |
hsa0541852 | Liver | HCC | Fluid shear stress and atherosclerosis | 89/4020 | 139/8465 | 5.58e-05 | 2.88e-04 | 1.60e-04 | 89 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
BMP4 | BMPR1A_ACVR2B | BMP4_BMPR1A_ACVR2B | BMP | CRC | MSI-H |
BMP6 | ACVR1_ACVR2B | BMP6_ACVR1_ACVR2B | BMP | CRC | MSI-H |
BMP6 | BMPR1A_ACVR2B | BMP6_BMPR1A_ACVR2B | BMP | CRC | MSI-H |
INHBB | ACVR1B_ACVR2B | INHBB_ACVR1B_ACVR2B | ACTIVIN | CRC | MSI-H |
GDF7 | BMPR1B_ACVR2B | GDF7_BMPR1B_ACVR2B | BMP | Endometrium | Healthy |
BMP2 | BMPR1A_ACVR2B | BMP2_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
BMP4 | BMPR1A_ACVR2B | BMP4_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
GDF6 | BMPR1A_ACVR2B | GDF6_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
BMP7 | BMPR1A_ACVR2B | BMP7_BMPR1A_ACVR2B | BMP | Esophagus | ESCC |
BMP5 | ACVR1_ACVR2B | BMP5_ACVR1_ACVR2B | BMP | Liver | Healthy |
BMP5 | BMPR1A_ACVR2B | BMP5_BMPR1A_ACVR2B | BMP | Liver | Healthy |
BMP5 | BMPR1B_ACVR2B | BMP5_BMPR1B_ACVR2B | BMP | Liver | Healthy |
BMP6 | ACVR1_ACVR2B | BMP6_ACVR1_ACVR2B | BMP | Liver | Healthy |
BMP6 | BMPR1A_ACVR2B | BMP6_BMPR1A_ACVR2B | BMP | Liver | Healthy |
BMP6 | BMPR1B_ACVR2B | BMP6_BMPR1B_ACVR2B | BMP | Liver | Healthy |
INHBC | ACVR1B_ACVR2B | INHBC_ACVR1B_ACVR2B | ACTIVIN | Liver | Healthy |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ACVR2B | SNV | Missense_Mutation | c.856N>A | p.Glu286Lys | p.E286K | Q13705 | protein_coding | deleterious(0.03) | benign(0.233) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
ACVR2B | SNV | Missense_Mutation | rs121434438 | c.1480N>A | p.Val494Ile | p.V494I | Q13705 | protein_coding | tolerated(0.05) | benign(0.009) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACVR2B | SNV | Missense_Mutation | novel | c.1531N>G | p.Ser511Gly | p.S511G | Q13705 | protein_coding | deleterious(0.03) | possibly_damaging(0.818) | TCGA-K6-A3WQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
ACVR2B | SNV | Missense_Mutation | rs770339569 | c.331N>A | p.Glu111Lys | p.E111K | Q13705 | protein_coding | tolerated(0.44) | benign(0.009) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
ACVR2B | insertion | Frame_Shift_Ins | novel | c.1291_1292insGAGTTACAGCCTC | p.Val431GlyfsTer15 | p.V431Gfs*15 | Q13705 | protein_coding | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
ACVR2B | SNV | Missense_Mutation | c.407N>C | p.Leu136Pro | p.L136P | Q13705 | protein_coding | tolerated(0.15) | benign(0.04) | TCGA-DD-A4NR-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ACVR2B | SNV | Missense_Mutation | novel | c.674N>G | p.Gln225Arg | p.Q225R | Q13705 | protein_coding | tolerated(0.12) | benign(0.024) | TCGA-DD-AACJ-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ACVR2B | SNV | Missense_Mutation | novel | c.362N>T | p.Gly121Val | p.G121V | Q13705 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-05-4382-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ACVR2B | SNV | Missense_Mutation | c.264G>T | p.Gln88His | p.Q88H | Q13705 | protein_coding | tolerated(0.21) | benign(0.062) | TCGA-99-8028-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ACVR2B | SNV | Missense_Mutation | novel | c.418N>T | p.Ala140Ser | p.A140S | Q13705 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-NC-A5HL-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | antagonist | CHEMBL3137353 | BIMAGRUMAB | |
93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | antibody | 249565766 | BIMAGRUMAB | |
93 | ACVR2B | KINASE, SERINE THREONINE KINASE, DRUGGABLE GENOME, ENZYME | ACE-031 | RAMATERCEPT |
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