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mutLBSgeneDB |
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| Gene summary for ACVR2B |
 Gene summary |
| Basic gene Info. | Gene symbol | ACVR2B |
| Gene name | activin A receptor, type IIB | |
| Synonyms | ACTRIIB|ActR-IIB|HTX4 | |
| Cytomap | UCSC genome browser: 3p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001106.3, | |
| Description | activin receptor type-2B | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602730 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000114739 | ||
| HPRD : 04106 | ||
| Vega : OTTHUMG00000131291 | ||
| Protein | UniProt: Q13705 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACVR2B | |
| BioGPS: 93 | ||
| Pathway | NCI Pathway Interaction Database: ACVR2B | |
| KEGG: ACVR2B | ||
| REACTOME: ACVR2B | ||
| Pathway Commons: ACVR2B | ||
| Context | iHOP: ACVR2B | |
| ligand binding site mutation search in PubMed: ACVR2B | ||
| UCL Cancer Institute: ACVR2B | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006355 | regulation of transcription, DNA-templated | 8622651 | GO:0007165 | signal transduction | 8622651 | GO:0030509 | BMP signaling pathway | 18436533 | GO:0032927 | positive regulation of activin receptor signaling pathway | 8622651 |
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| Ligand binding site mutations for ACVR2B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A266 | A266T | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ACVR2B |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | A266 | A266T | -0.97429508 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ACVR2B from PDB |
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| Differential gene expression and gene-gene network for ACVR2B |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ACVR2B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3178805 | Heterotaxy Syndrome | 2 | Biomarker |
| umls:C3151057 | HETEROTAXY, VISCERAL, 4, AUTOSOMAL | 1 | Biomarker, GeneticVariation |
| umls:C0037221 | Situs Inversus | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACVR2B |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACVR2B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADE | ADENINE | 2qlu | A | A266 |
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| Conservation information for LBS of ACVR2B |
| Multiple alignments for Q13705 in multiple species |
| LBS | AA sequence | # species | Species | A215 | MNDFVAVKIFP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A215 | MNDYVAVKIFP | 1 | Gallus gallus | A266 | LWLITAFHDKG | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F267 | WLITAFHDKGS | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | H268 | LITAFHDKGSL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L245 | KHENLLQFIAA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L328 | KSKNVLLKSDL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L328 | KSKNVLLKNDL | 1 | Gallus gallus | T265 | ELWLITAFHDK | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus |
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