GENE REFERENCE / HGNC:1078

BMPR2

bone morphogenetic protein receptor type 2

protein-coding gene2q33.1-q33.2Gene information

What does this gene do?

The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type 2. The BMPR2 gene belongs to a family of genes originally identified for its role in regulating the growth and maturation (differentiation) of bone and cartilage. Recently, researchers have found that this gene family plays a broader role in regulating the growth and differentiation of numerous types of cells.

Bone morphogenetic protein receptor type 2 spans the cell membrane, so that one end of the protein is on the outer surface of the cell and the other end remains inside the cell. This positioning allows the protein to receive and transmit signals that help the cell respond to its environment by growing and dividing (cell proliferation) or by undergoing controlled cell death (apoptosis). This balance of cell proliferation and apoptosis regulates the number of cells in tissues.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-13. Source review: 2016-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
congenital heart diseaseMONDO:0005453 · Evaluated 2023-09-18	Autosomal dominant	LimitedCongenital Heart Disease Gene Curation Expert Panel
pulmonary arterial hypertensionMONDO:0015924 · Evaluated 2020-12-07	Autosomal dominant	DefinitivePulmonary Hypertension Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,322
Submissions for variants in or overlapping this gene: 3,237
Submissions explicitly reporting this gene: 3,153
Alleles reported pathogenic / likely pathogenic: 604
VariationIDs with uncertain significance: 975
VariationIDs with conflicting classifications: 72

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about BMPR2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 604 alleles in BMPR2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in BMPR2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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