BMP15 (bone morphogenetic protein 15)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9210
Gene name Gene Name - the full gene name approved by the HGNC.
Bone morphogenetic protein 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BMP15
Synonyms (NCBI Gene) Gene synonyms aliases
GDF9B, ODG2, POF4
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300247 1068 ENSG00000130385
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ovarian Dysgenesis ovarian dysgenesis 2 rs104894765 N/A
Premature Ovarian Failure premature ovarian failure 4 rs137853320 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gonadal Dysgenesis 46 XX gonadal dysgenesis N/A N/A GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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