mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	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 symbol	BMPR2
	Gene name	bone morphogenetic protein receptor, type II (serine/threonine kinase)
	Synonyms	BMPR-II\|BMPR3\|BMR2\|BRK-3\|POVD1\|PPH1\|T-ALK
	Cytomap	UCSC genome browser: 2q33-q34
	Type of gene	protein-coding
	RefGenes	NM_001204.6, NM_033346.2,
	Description	BMP 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 date	20141219
dbXrefs	MIM : 600799
	HGNC : HGNC
	Ensembl : ENSG00000204217
	HPRD : 02880
	Vega : OTTHUMG00000133617
Protein	UniProt: Q13873 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_BMPR2
	BioGPS: 659
Pathway	NCI Pathway Interaction Database: BMPR2
	KEGG: BMPR2
	REACTOME: BMPR2
	Pathway Commons: BMPR2
Context	iHOP: BMPR2
	ligand binding site mutation search in PubMed: BMPR2
	UCL Cancer Institute: BMPR2
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 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 ID	GO Term	PubMed ID
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	12045205
GO:0010634	positive regulation of epithelial cell migration	12819188
GO:0030308	negative regulation of cell growth	12819188
GO:0030509	BMP signaling pathway	18436533

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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

LBS	AAchange of nsSNV	Cancer type	# samples
Y282	P283L	COAD	1
L340	L340Q	COAD	1
Y282	P283T	OV	1
R211	R211Q	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 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.

LBS	AAchange of nsSNV	Relative stability change
L340	L340Q	-1.600341
Y282	P283T	-1.1941226
R211	R211Q	-1.0046782
Y282	P283L	-0.66987753

(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

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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.

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Phenotype information for BMPR2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0152171	Idiopathic Pulmonary Hypertension	107	Biomarker, GeneticVariation
umls:C3714844	PULMONARY HYPERTENSION, PRIMARY, 1	83	Biomarker, GeneticVariation
umls:C0020542	Hypertension, Pulmonary	43	Biomarker, GeneticVariation
umls:C1458155	Breast Neoplasms	2	AlteredExpression, Biomarker
umls:C0034091	Pulmonary Veno-Occlusive Disease	2	Biomarker
umls:C0206081	Hyperandrogenism	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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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.