Hs05856570_cn

• Gene Symbol: BMPR2
• Assay Reference Genome Location: Chr.2:202387549 on build GRCh38
• Cytoband: 2q33.1

Target Gene Details

• Entrez Gene ID: 659
• Gene Name: bone morphogenetic protein receptor type 2
• Gene Aliases: BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
• Location: Chr.2:202376310-202567751 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BMPR2	NM_001204.6			NP_001195.2
	XM_011511687.1			XP_011509989.1
	AK292430.1
	BC052985.2			AAH52985.1
	D50516.1			BAA09094.1
	U20165.1			AAC50105.1
	Z48923.1			CAA88759.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2763060	Chr.2:202380954 - 202421699 on Build GRCh38	Loss	BMPR2
nsv1007686	Chr.2:202370673 - 202421699 on Build GRCh38	Loss	BMPR2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Process(es)

mesoderm formation
maternal placenta development
endothelial cell proliferation
positive regulation of endothelial cell proliferation
lymphangiogenesis
blood vessel remodeling
chondrocyte development
negative regulation of systemic arterial blood pressure
transcription from RNA polymerase II promoter
transmembrane receptor protein serine/threonine kinase signaling pathway
brain development
cellular response to starvation
anterior/posterior pattern specification
positive regulation of endothelial cell migration
positive regulation of epithelial cell migration
positive regulation of pathway-restricted SMAD protein phosphorylation
regulation of lung blood pressure
signal transduction by protein phosphorylation
proteoglycan biosynthetic process
negative regulation of cell growth
positive regulation of bone mineralization
BMP signaling pathway
positive regulation of BMP signaling pathway
activin receptor signaling pathway
regulation of cell proliferation
positive regulation of osteoblast differentiation
negative regulation of vasoconstriction
positive regulation of transcription from RNA polymerase II promoter
vascular endothelial growth factor receptor signaling pathway
lung alveolus development
positive regulation of axon extension involved in axon guidance
limb development
endochondral bone morphogenesis
lymphatic endothelial cell differentiation
artery development
venous blood vessel development
positive regulation of cartilage development
retina vasculature development in camera-type eye
cellular response to BMP stimulus
endothelial cell apoptotic process
negative regulation of chondrocyte proliferation
negative regulation of DNA biosynthetic process

Function(s)

receptor signaling protein serine/threonine kinase activity
protein binding
ATP binding
activin receptor activity, type II
growth factor binding
BMP binding
metal ion binding
BMP receptor activity