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mutLBSgeneDB |
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| Gene summary for BMPR1B |
 Gene summary |
| Basic gene Info. | Gene symbol | BMPR1B |
| Gene name | bone morphogenetic protein receptor, type IB | |
| Synonyms | ALK-6|ALK6|CDw293 | |
| Cytomap | UCSC genome browser: 4q22-q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001203.2, NM_001256792.1,NM_001256793.1,NM_001256794.1, | |
| Description | BMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor type-1Bserine/threonine receptor kinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603248 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138696 | ||
| HPRD : 04457 | ||
| Vega : OTTHUMG00000130991 | ||
| Protein | UniProt: O00238 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BMPR1B | |
| BioGPS: 658 | ||
| Pathway | NCI Pathway Interaction Database: BMPR1B | |
| KEGG: BMPR1B | ||
| REACTOME: BMPR1B | ||
| Pathway Commons: BMPR1B | ||
| Context | iHOP: BMPR1B | |
| ligand binding site mutation search in PubMed: BMPR1B | ||
| UCL Cancer Institute: BMPR1B | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for BMPR1B. | 1. "Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet. 2005 Apr;42(4):314-7. PubMed PMID: 15805157; PubMed Central PMCID: PMC1736042. " 15805157 2. "Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. PubMed PMID:24129431; PubMed Central PMCID: PMC4023204." 24129431 3. "Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5. PubMed PMID: 26105076; PubMed Central PMCID: PMC4482310. " 26105076 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006468 | protein phosphorylation | 12065756 | GO:0030509 | BMP signaling pathway | 18436533 |
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| Ligand binding site mutations for BMPR1B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I210 | G211E | BLCA | 1 | V218 | W219C | LUAD | 1 | T279 | T279I | UCEC | 1 | D350 | L351M | UCEC | 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 BMPR1B |
| 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 | D350 | L351M | 0.21828383 | V218 | W219C | -0.86842069 | I210 | G211E | -0.83251587 | T279 | T279I | -0.58910467 |
| (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 BMPR1B from PDB |
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| Differential gene expression and gene-gene network for BMPR1B |
| 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 BMPR1B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1832702 | Brachydactyly type A2 | 6 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | Biomarker, GeneticVariation |
| umls:C0005941 | Bone Diseases, Developmental | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0015393 | Eye Abnormalities | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BMPR1B |
| 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 BMPR1B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3mdy | A | I210 V218 T279 D350 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3mdy | C | I210 V218 T279 D350 |
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| Conservation information for LBS of BMPR1B |
| Multiple alignments for O00238 in multiple species |
| LBS | AA sequence | # species | Species | A229 | RGEKVAVKVFF | 3 | Homo sapiens, Gallus gallus, Mus musculus | A229 | RGSYVAVKTFY | 1 | Caenorhabditis elegans | A349 | GTCCIADLGLA | 3 | Homo sapiens, Gallus gallus, Mus musculus | A349 | NVCCIADLGLA | 1 | Caenorhabditis elegans | D280 | LYLITDYHENG | 3 | Homo sapiens, Gallus gallus, Mus musculus | D280 | MLLITDYHELG | 1 | Caenorhabditis elegans | D289 | NGSLYDYL-KS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D289 | LGSLSDYLCRE | 1 | Caenorhabditis elegans | D350 | TCCIADLGLAV | 3 | Homo sapiens, Gallus gallus, Mus musculus | D350 | VCCIADLGLAL | 1 | Caenorhabditis elegans | E283 | ITDYHENGSLY | 3 | Homo sapiens, Gallus gallus, Mus musculus | E283 | ITDYHELGSLS | 1 | Caenorhabditis elegans | G285 | DYHENGSLYDY | 3 | Homo sapiens, Gallus gallus, Mus musculus | G285 | DYHELGSLSDY | 1 | Caenorhabditis elegans | H282 | LITDYHENGSL | 3 | Homo sapiens, Gallus gallus, Mus musculus | H282 | LITDYHELGSL | 1 | Caenorhabditis elegans | I210 | QMVKQIGKGRY | 3 | Homo sapiens, Gallus gallus, Mus musculus | I210 | TIIKTIGQGRY | 1 | Caenorhabditis elegans | K336 | RDLKSKNILVK | 3 | Homo sapiens, Gallus gallus, Mus musculus | K336 | RDIKSKNIIVK | 1 | Caenorhabditis elegans | L259 | RHENILGFIAA | 3 | Homo sapiens, Gallus gallus, Mus musculus | L259 | NHENILQFVAA | 1 | Caenorhabditis elegans | L339 | KSKNILVKKNG | 3 | Homo sapiens, Gallus gallus, Mus musculus | L339 | KSKNIIVKRPN | 1 | Caenorhabditis elegans | N337 | DLKSKNILVKK | 3 | Homo sapiens, Gallus gallus, Mus musculus | N337 | DIKSKNIIVKR | 1 | Caenorhabditis elegans | T279 | QLYLITDYHEN | 3 | Homo sapiens, Gallus gallus, Mus musculus | T279 | KMLLITDYHEL | 1 | Caenorhabditis elegans | V218 | GRYGEVWMGKW | 3 | Homo sapiens, Gallus gallus, Mus musculus | V218 | GRYGEVRKALY | 1 | Caenorhabditis elegans | Y281 | YLITDYHENGS | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y281 | LLITDYHELGS | 1 | Caenorhabditis elegans |
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