BMP15 (bone morphogenetic protein 15)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9210
Gene name Bone morphogenetic protein 15
Gene symbol BMP15
Synonyms (NCBI Gene)
GDF9BODG2POF4
Chromosome X
Chromosome location Xp11.22
Summary 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
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs104894763 C>T Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs104894765 A>C,G Pathogenic Coding sequence variant, missense variant
rs104894766 C>T Pathogenic Coding sequence variant, missense variant
rs104894767 G>A,T Likely-benign, pathogenic, uncertain-significance Coding sequence variant, missense variant
rs137853320 C>T Pathogenic Coding sequence variant, stop gained
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IEA
GO:0005515 Function Protein binding IPI 33961781
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300247 1068 ENSG00000130385
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95972
Protein name Bone morphogenetic protein 15 (BMP-15) (Growth/differentiation factor 9B) (GDF-9B)
Protein function May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 290 → 391 Transforming growth factor beta like domain Domain
Sequence 
MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKP
RLLGHSLRYMLELYRRSADSHGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFP
LRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNPTNHFPSSEGDSSKPSLMSNA
WKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTH
KSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISF
RQLGWDHWIIAPPFYTPNYCKGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPY
KYVPISVLMIEANGSILYKEYEGMIAESCTCR
Sequence length 392
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Ovarian steroidogenesis 		  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Genetic non-acquired premature ovarian failure Likely pathogenic rs782325962, rs782540417 RCV001661770
RCV001663380
Ovarian dysgenesis 2 Pathogenic; Likely pathogenic rs371418883, rs782516193, rs375284458, rs782379521, rs104894765, rs1923115287 RCV002249300
RCV002249301
RCV002249302
RCV002249303
RCV000012225
RCV001249552
Premature ovarian failure 4 Pathogenic rs137853320 RCV000012228
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BMP15-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs104894763, rs782213080, rs151186104, rs202165852, rs141218518 RCV003944814
RCV003899470
RCV003959138
RCV004757226
RCV003957882
Ovarian dysgenesis Benign rs371124071 RCV000374288
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amenorrhea Associate 19263482, 31957178, 35232444
Anovulation Associate 17905236
Heart Diseases Associate 35861920
Infertility Associate 17905236
Ovarian Dysgenesis 2 Associate 15136966
Ovarian Neoplasms Associate 35232444, 38358476
Polycystic Ovary Syndrome Associate 19376510, 21669410, 22825968, 23912750, 25172094, 36151730
Primary Ovarian Insufficiency Associate 17027369, 17464588, 18614612, 19263482, 25954833, 29916099, 30689869, 31392662, 31745224, 31957178, 34187539, 35232444, 35861920
Respiratory Distress Syndrome Associate 27095254
Severe Acute Respiratory Syndrome Associate 27095254