Hs03758505_cn

• Gene Symbol: BMPR1A
• Assay Reference Genome Location: Chr.10:86755775 on build GRCh38
• Cytoband: 10q23.2

Target Gene Details

• Entrez Gene ID: 657
• Gene Name: bone morphogenetic protein receptor type 1A
• Gene Aliases: 10q23del, ACVRLK3, ALK3, CD292, SKR5
• Location: Chr.10:86755786-86927969 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BMPR1A	XM_011540103.2			XP_011538405.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759774	Chr.10:86755301 - 87550005 on Build GRCh38	Gain+Loss	NUTM2A GLUD1 LINC00864 NUTM2A-AS1 MINPP1 LINC00863 MMRN2 NUTM2D ADIRF BMPR1A MIR4678 AGAP11 FAM25A SNCG FAM35A

More Information

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

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Process(es)

in utero embryonic development
mesoderm formation
somitogenesis
Mullerian duct regression
positive regulation of mesenchymal cell proliferation
chondrocyte differentiation
outflow tract septum morphogenesis
outflow tract morphogenesis
cardiac conduction system development
mitral valve morphogenesis
tricuspid valve morphogenesis
endocardial cushion morphogenesis
cardiac right ventricle morphogenesis
ventricular trabecula myocardium morphogenesis
ventricular compact myocardium morphogenesis
endocardial cushion formation
protein phosphorylation
immune response
transforming growth factor beta receptor signaling pathway
ectoderm development
dorsal/ventral axis specification
regulation of cardiac muscle cell apoptotic process
positive regulation of pathway-restricted SMAD protein phosphorylation
neural crest cell development
negative regulation of smooth muscle cell migration
stem cell population maintenance
pituitary gland development
neural plate mediolateral regionalization
signal transduction by protein phosphorylation
lung development
positive regulation of bone mineralization
BMP signaling pathway
hindlimb morphogenesis
dorsal aorta morphogenesis
odontogenesis of dentin-containing tooth
embryonic digit morphogenesis
positive regulation of osteoblast differentiation
positive regulation of transcription from RNA polymerase II promoter
paraxial mesoderm structural organization
lateral mesoderm development
regulation of lateral mesodermal cell fate specification
mesendoderm development
embryonic organ development
developmental growth
positive regulation of epithelial cell proliferation
negative regulation of neurogenesis
palate development
regulation of cardiac muscle cell proliferation
positive regulation of cardiac muscle cell proliferation
positive regulation of SMAD protein import into nucleus
heart formation
pharyngeal arch artery morphogenesis
cellular response to BMP stimulus
positive regulation of cardiac ventricle development
positive regulation of vascular smooth muscle cell proliferation
regulation of cellular senescence

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
glycoprotein binding
protein serine/threonine kinase activity
transmembrane receptor protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
protein binding
ATP binding
protein homodimerization activity
SMAD binding
metal ion binding
BMP receptor activity