mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for BMPR2
Gene summary
Basic gene Info.Gene symbolBMPR2
Gene namebone morphogenetic protein receptor, type II (serine/threonine kinase)
CytomapUCSC genome browser: 2q33-q34
Type of geneprotein-coding
DescriptionBMP type II receptorBMP type-2 receptorBMPR-2bone morphogenetic protein receptor type IIbone morphogenetic protein receptor type-2type II activin receptor-like kinasetype II receptor for bone morphogenetic protein-4
Modification date20141219
dbXrefs MIM : 600799
Ensembl : ENSG00000204217
HPRD : 02880
Vega : OTTHUMG00000133617
ProteinUniProt: Q13873
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BMPR2
BioGPS: 659
PathwayNCI Pathway Interaction Database: BMPR2
Pathway Commons: BMPR2
ContextiHOP: BMPR2
ligand binding site mutation search in PubMed: BMPR2
UCL Cancer Institute: BMPR2
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for BMPR2.1. "Lane KL, Talati M, Austin E, Hemnes AR, Johnson JA, Fessel JP, Blackwell T, Mernaugh RL, Robinson L, Fike C, Roberts LJ 2nd, West J. Oxidative injury is a common consequence of BMPR2 mutations. Pulm Circ. 2011;1(1):72-83. PubMed PMID: 21904662; PubMed Central PMCID: PMC3167174. " 21904662

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0007178transmembrane receptor protein serine/threonine kinase signaling pathway12045205
GO:0010634positive regulation of epithelial cell migration12819188
GO:0030308negative regulation of cell growth12819188
GO:0030509BMP signaling pathway18436533

Ligand binding site mutations for BMPR2
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for BMPR2
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

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.
LBSAAchange of nsSNVRelative stability change
(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 BMPR2 from PDB

Differential gene expression and gene-gene network for BMPR2
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)
* Left PPI network was created from samples with mutations in the LBS of BMPR2 and the right PPI network was created from samples without mutations in the LBS of BMPR2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for BMPR2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0152171Idiopathic Pulmonary Hypertension107Biomarker, GeneticVariation
umls:C3714844PULMONARY HYPERTENSION, PRIMARY, 183Biomarker, GeneticVariation
umls:C0020542Hypertension, Pulmonary43Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms2AlteredExpression, Biomarker
umls:C0034091Pulmonary Veno-Occlusive Disease2Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for BMPR2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BMPR2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP3g2fAR211 Y282 L340
ADPADP3g2fBY282 L340

Conservation information for LBS of BMPR2
Multiple alignments for Q13873 in multiple species
LBSAA sequence# speciesSpecies

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas