BMP15 Chromosome X
Bone morphogenetic protein 15
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What This Gene Does
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Bone morphogenetic proteins
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000130385
Associated Conditions (4)
Premature ovarian failure 4
Ovarian dysgenesis 2
BMP15-related disorder
Genetic non-acquired premature ovarian failure
Key Variants
RS104894763
Conflicting classifications of pathogenicity
Premature ovarian failure 4, Ovarian dysgenesis 2, BMP15-related disorder
Health Risk
RS104894766
Conflicting classifications of pathogenicity
Premature ovarian failure 4, Ovarian dysgenesis 2, Premature ovarian failure 4
Health Risk
RS104894767
Conflicting classifications of pathogenicity
Premature ovarian failure 4, Ovarian dysgenesis 2, Premature ovarian failure 4
Health Risk
RS1923115287
Likely pathogenic
Ovarian dysgenesis 2, Ovarian dysgenesis 2
Health Risk
RS782325962
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS782540417
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS104894765
Pathogenic
Ovarian dysgenesis 2, Ovarian dysgenesis 2
Health Risk
RS137853320
Pathogenic
Premature ovarian failure 4, Premature ovarian failure 4
Health Risk
RS2519174814
Pathogenic
Health Risk
RS371418883
Pathogenic
Ovarian dysgenesis 2, Ovarian dysgenesis 2
Health Risk
RS375284458
Pathogenic
Ovarian dysgenesis 2, Ovarian dysgenesis 2
Health Risk
RS782379521
Pathogenic
Ovarian dysgenesis 2, Ovarian dysgenesis 2
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894763 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 4, Ovarian dysgenesis 2, BMP15-related disorder |
| RS104894766 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 4, Ovarian dysgenesis 2, Premature ovarian failure 4 |
| RS104894767 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 4, Ovarian dysgenesis 2, Premature ovarian failure 4 |
| RS1923115287 | Health Risk | Likely pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |
| RS782325962 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS782540417 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS104894765 | Health Risk | Pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |
| RS137853320 | Health Risk | Pathogenic | Premature ovarian failure 4, Premature ovarian failure 4 |
| RS2519174814 | Health Risk | Pathogenic | — |
| RS371418883 | Health Risk | Pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |
| RS375284458 | Health Risk | Pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |
| RS782379521 | Health Risk | Pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |
| RS782516193 | Health Risk | Pathogenic | Ovarian dysgenesis 2, Ovarian dysgenesis 2 |