BMP2

Summary

BMP2 (bone morphogenetic protein 2, HGNC:1069) is a protein-coding gene on chromosome 20p12.3, encoding Bone morphogenetic protein 2 (P12643). Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis.

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 each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients.

Source: NCBI Gene 650 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 94
• Clinical variants (ClinVar): 257 total — 25 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 102
• Druggable target: yes
• Transcription factor: yes — 20 downstream targets (CollecTRI)
• MANE Select transcript: NM_001200

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1069
Approved symbol	BMP2
Name	bone morphogenetic protein 2
Location	20p12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000125845
Ensembl biotype	protein_coding
OMIM	112261
Entrez	650

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000378827, ENST00000936876, ENST00000953442, ENST00000953443

RefSeq mRNA: 1 — MANE Select: NM_001200 NM_001200

CCDS: CCDS13099

Canonical transcript exons

ENST00000378827 — 3 exons

Exon	Start	End
ENSE00001478936	6778245	6780246
ENSE00001478945	6770120	6770472
ENSE00001478949	6767686	6768875

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 97.26.

FANTOM5 (CAGE): breadth broad, TPM avg 3.3308 / max 108.5483, expressed in 828 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183402	2.4683	725
183407	0.3984	177
183405	0.2130	86
183404	0.1026	39
183406	0.0774	36
183403	0.0711	21

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	97.26	gold quality
pancreatic ductal cell	CL:0002079	96.33	gold quality
pigmented layer of retina	UBERON:0001782	94.47	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.39	gold quality
colonic mucosa	UBERON:0000317	93.20	gold quality
lower lobe of lung	UBERON:0008949	91.80	gold quality
pylorus	UBERON:0001166	90.72	gold quality
periodontal ligament	UBERON:0008266	90.21	gold quality
mucosa of urinary bladder	UBERON:0001259	89.62	gold quality
stromal cell of endometrium	CL:0002255	88.59	gold quality
renal glomerulus	UBERON:0000074	88.52	gold quality
metanephric glomerulus	UBERON:0004736	88.27	gold quality
jejunal mucosa	UBERON:0000399	88.17	gold quality
epithelial cell of pancreas	CL:0000083	86.95	gold quality
cervix squamous epithelium	UBERON:0006922	84.90	silver quality
parietal pleura	UBERON:0002400	84.76	gold quality
mucosa of transverse colon	UBERON:0004991	84.53	gold quality
gall bladder	UBERON:0002110	84.23	gold quality
rectum	UBERON:0001052	84.01	gold quality
lung	UBERON:0002048	83.71	gold quality
germinal epithelium of ovary	UBERON:0001304	83.49	gold quality
pleura	UBERON:0000977	82.34	gold quality
upper lobe of lung	UBERON:0008948	81.98	gold quality
upper lobe of left lung	UBERON:0008952	81.73	gold quality
visceral pleura	UBERON:0002401	80.78	gold quality
urinary bladder	UBERON:0001255	80.64	gold quality
islet of Langerhans	UBERON:0000006	80.58	gold quality
kidney epithelium	UBERON:0004819	79.79	gold quality
nipple	UBERON:0002030	79.60	gold quality
right lung	UBERON:0002167	79.55	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.52

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

20 targets.

Target	Regulation
APOE	Activation
BGLAP	Activation
CEBPA	Repression
FABP4	Repression
GATA4	Activation
HAMP	Activation
ID1	Activation
ID2	Activation
LEF1	Activation
LPL	Repression
MSX2	Activation
NOTCH1	Activation
OMD	Activation
PPARG	Repression
RUNX2	Activation
SHH	Repression
SP7	Activation
TBX2	Activation
TMEM119	Activation
WWTR1	Activation

Upstream regulators (CollecTRI, top): AIRE, AP1, BARX1, BMP4, BMP5, BMP6, CREB1, CTNNB1, DLX3, DLX5, DNMT1, ENG, ESR1, ESR2, FGF2, FGF9, FOS, FOXA1, FOXC1, FOXL1, GATA3, GATA4, GATA6, GLI2, HAND2, HBP1, HEY1, HNF4A, HOXC8, HOXD13, ID3, JUN, MEF2A, MEF2C, MSX1, NFKB1, NFKB, NFKBIA, NKX2-5, NOTCH1

miRNA regulators (miRDB)

120 targeting BMP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-548E-5P	99.89	72.73	4486

Literature-anchored findings (GeneRIF, showing 40)

• The expression signals of BMP-2 mRNA in malignant schwannoma were not lower than in benign lesions (PMID:11642720)
• BMP-2 gene transfection tends to accelerate HPDLFs into osteoblast-like cells. (PMID:11718007)
• promotes chondrogenic differentiation of multipotential mesenchymal cells (PMID:11748585)
• Macrophage cell lines produce osteoinductive signals that include bone morphogenetic protein-2. (PMID:11792561)
• BMP-2 and TGF-beta activate both Ras/MAPK/AP-1 and Smad signaling in osteoblasts with Smads modulating AP-1 activity. (PMID:11854297)
• RT-PCR analysis of human bone marrow stromal cells during osteogenesis in vitro: the mRNA levels of bone morphogenetic protein-2 (BMP-2), bone sialoprotein-II (BSP), osteopontin (OP) and cbfa-1 increased with culture time in osteogenic medium. (PMID:11968014)
• REVIEW:Bone morphogenetic protein (BMP)-2 cell cycle arrest and apoptosis in human myeloma cells. (PMID:12002771)
• Local application of recombinant human BMP2 from coated titanium implants significantly improves fracture healing, biomechanical torsional stability, and callus remodeling in a rat model. (PMID:12052447)
• induces osteocalcin expression in osteoblasts (PMID:12082094)
• BMP2 binds to collagen II at a specific binding domain and has a role in embryo development, organogenesis, and regeneration of damaged tissues (PMID:12126644)
• BMP2 has a role in controlling normal and premature cranial ossification in humans [review] (PMID:12168799)
• rhBMP-2 promotes MSC activity and reverses bone and cartilage loss in osteopenic mice (PMID:12210753)
• BMP2 can recruit progenitors to the cementoblastic lineage and regulate differentiation by inducing and enhancing the expression of cementum attachment protein, a cell lineage-specific regulator. (PMID:12489168)
• BMP-2 inhibits PDGF-stimulated proliferation of HASMCs through induction of p21. p21-mediated induction of cell cycle arrest by BMP-2 may initiate osteogenic differentiation of vascular smooth muscle cells, ultimately leading to vascular mineralization. (PMID:12527559)
• BMP2 and BMP4 differently affect activin A induction of erythropoiesis; follistatin and FLRG proteins downmodulate the effects of activin A and BMP2. (PMID:12531697)
• results show that expression of a dominant negative type II TGFbeta receptor impairs BMP2 signaling in MDA-MB-231 breast cancer cells, resulting in an attenuation of the anti-proliferative effects of BMP2 on these cells (PMID:12535648)
• BMP2 exposure can regulate PTEN protein levels by decreasing PTEN’s association with the degradative pathway (PMID:12620973)
• In pulmonary artery smooth muscle cells from pulmonary hypertension patients, the BMP-2- or BMP-7-induced apoptosis was significantly inhibited compared with PASMCs from patients with secondary pulmonary hypertension. (PMID:12740218)
• expression of the mature BMP-2 protein is disregulated in the majority of NSCLC. BMP-2 enhancement of tumor cell migration and invasion, as well as stimulating tumor growth in vivo, suggests it has important biological activity in lung carcinomas. (PMID:12819188)
• BMP-2 exerts both positive and negative effects on osteoblasts, possibly depending on the differentiation stage and/or the existing BMP signaling (PMID:12854828)
• Results suggest that rHuIL-11 acts synergistically with rHuBMP-2 to more rapidly stimulate bone formation compared with rHuBMP-2 alone. (PMID:12856332)
• Data show that retinoid-induced expression of bone morphogenetic protein-2 is necessary and sufficient for apoptosis of retinoid-responsive cells. (PMID:12872164)
• Study evaluates several aspects of the osteogenic effect of human BMP-2 protein injected into quadriceps of female C57B1/6J SCID mice. (PMID:12919699)
• In cell culture, IL-1beta and TNF-alpha increased BMP-2 mRNA and protein levels by eightfold and fifteenfold, respectively, whereas IGF-1 and TGF-beta1 had no effect. In cartilage explant cultures, IL-1beta and TNF-alpha increased BMP-2 levels. (PMID:12925611)
• brief exposure to recombinant human bone morphogenetic protein-2 (rhBMP-2)is sufficient to induce irreversible commitment to mineralization in dexamethasone-treated osteoblast cultures (PMID:12933820)
• BMP-2 stimulated Placental growth factor secretion from MG63 osteosarcoma and mesenchymal stem cells (PMID:13678785)
• These results indicate that the 73-92 peptide of bone morphogenetic protein-2 (BMP-2) may be a receptor-binding site and may stimulate bone precursor cells to induce calcification. (PMID:14499589)
• BMP-2 and BMP-6 are expressed in arthritic synovium and are strongly up-regulated by proinflammatory cytokines. (PMID:14558086)
• the effect of MGP on calcification and osteogenic differentiation is determined by availability of BMP-2 (PMID:14587031)
• a region on the short arm of Chromosome 20 contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures, including BMP2 (PMID:14691541)
• BMP2 acts as a tumor suppressor promoting apoptosis in mature colonic epithelial cells. (PMID:14699493)
• BMP-2 enhanced the angiogenic response in developing tumors (PMID:15037653)
• Decreased BMP2 expression associated with progression to prostate cancer; loss of BMP2 and Smad4 related to progression to a more aggressive phenotype (PMID:15042598)
• BMP2 or 4 in pilomatricoma is responsible for induction of proalpha(1)(II) collagen mRNA in overlying epidermal cells resulting in deposition of type II collagen in dermo-epidermal junction. (PMID:15102076)
• bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation requires menin, Smads and Runx2 (PMID:15150273)
• Myogenin protein stability is decreased by BMP-2 through a mechanism implicating Id1. (PMID:15322112)
• The Bmp2 3’ UTR contains essential regulatory elements that act post-transcriptionally (PMID:15358784)
• The expression of tenascin-W is induced by BMP-2 in mammary canacer. (PMID:15592496)
• In the presence of 10 microg rHuBMP-2, muscle-derived mesenchymal cells expressed type II collagen messenger RNA at 4 days after transplantation, and a mature cartilage mass was formed 5 weeks after transplantation in the diffusion chamber. (PMID:15641068)
• BMP-2 upregulates the expression of alphavbeta integrins, and these integrins, in turn, play a critical role in BMP-2 function in osteoblasts (PMID:15647827)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bmp2a	ENSDARG00000013409
danio_rerio	bmp2b	ENSDARG00000041430
mus_musculus	Bmp2	ENSMUSG00000027358
rattus_norvegicus	Bmp2	ENSRNOG00000071010

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Bone morphogenetic protein 2 — P12643 (reviewed: P12643)

Alternative names: Bone morphogenetic protein 2A

All UniProt accessions (2): P12643, C8C060

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3. Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation. Also stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN. Interacts with MAFP5. Interacts with FBN1 (via N-terminal domain) and FBN2. Interacts with type I receptor BMPR1A. Interacts with type II receptor BMPR2. Interacts with SCUBE3. Interacts with TNFAIP6 (primarily via Link domain); this interaction is inhibited by hyaluronan. Interacts with ERFE. Interacts with BMPR1A/ALK3; the interaction may induce HAMP expression. Forms heterodimers with BMP6 in vitro; the heterodimer then binds to its receptor BMPR1A /ALK3 and may induce HAMP expression. Interacts with TGFBR3.

Subcellular location. Secreted.

Tissue specificity. Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine.

Disease relevance. Brachydactyly A2 (BDA2) [MIM:112600] A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences. Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (SSFSC1) [MIM:617877] An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TGF-beta family.

RefSeq proteins (1): NP_001191* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001111	TGF-b_propeptide	Domain
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily
IPR047953	BMP2_TGF_beta-like	Domain

Pfam: PF00019, PF00688

UniProt features (40 total): sequence variant 9, strand 9, glycosylation site 5, disulfide bond 4, helix 4, region of interest 2, signal peptide 1, propeptide 1, chain 1, mutagenesis site 1, turn 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
2H62	X-RAY DIFFRACTION	1.85
1REW	X-RAY DIFFRACTION	1.86
4N1D	X-RAY DIFFRACTION	1.91
2H64	X-RAY DIFFRACTION	1.92
4MID	X-RAY DIFFRACTION	2.14
2GOO	X-RAY DIFFRACTION	2.2
4UI1	X-RAY DIFFRACTION	2.35
2QJ9	X-RAY DIFFRACTION	2.44
2QJB	X-RAY DIFFRACTION	2.5
2QJA	X-RAY DIFFRACTION	2.6
1REU	X-RAY DIFFRACTION	2.65
6OMN	X-RAY DIFFRACTION	2.68
3BK3	X-RAY DIFFRACTION	2.7
3BMP	X-RAY DIFFRACTION	2.7
4UI0	X-RAY DIFFRACTION	2.8
8E3G	X-RAY DIFFRACTION	2.8
4UHZ	X-RAY DIFFRACTION	2.85
1ES7	X-RAY DIFFRACTION	2.9
7AG0	X-RAY DIFFRACTION	3.1
4UI2	X-RAY DIFFRACTION	3.15
4UHY	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12643-F1	80.37	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 87

Disulfide bonds (4): 296–361, 325–393, 329–395, 360

Glycosylation sites (5): 200, 338, 135, 163, 164

Mutagenesis-validated functional residues (1):

Position	Phenotype
333	complete loss of type i receptor binding.

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-201451	Signaling by BMP
R-HSA-2129379	Molecules associated with elastic fibres
R-HSA-8878166	Transcriptional regulation by RUNX2
R-HSA-8939902	Regulation of RUNX2 expression and activity
R-HSA-1474244	Extracellular matrix organization
R-HSA-1566948	Elastic fibre formation
R-HSA-162582	Signal Transduction
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9006936	Signaling by TGFB family members

MSigDB gene sets: 917 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, MODULE_92, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT

GO Biological Process (109): negative regulation of transcription by RNA polymerase II (GO:0000122), MAPK cascade (GO:0000165), skeletal system development (GO:0001501), osteoblast differentiation (GO:0001649), branching involved in ureteric bud morphogenesis (GO:0001658), response to hypoxia (GO:0001666), in utero embryonic development (GO:0001701), epithelial to mesenchymal transition (GO:0001837), positive regulation of protein phosphorylation (GO:0001934), chondrocyte differentiation (GO:0002062), heart morphogenesis (GO:0003007), heart induction (GO:0003129), endodermal-mesodermal cell signaling (GO:0003133), aortic valve development (GO:0003176), atrioventricular valve morphogenesis (GO:0003181), endocardial cushion morphogenesis (GO:0003203), cardiac atrium formation (GO:0003210), endocardial cushion formation (GO:0003272), positive regulation of extracellular matrix constituent secretion (GO:0003331), proteoglycan metabolic process (GO:0006029), regulation of DNA-templated transcription (GO:0006355), transcription by RNA polymerase II (GO:0006366), protein import into nucleus (GO:0006606), inflammatory response (GO:0006954), Notch signaling pathway (GO:0007219), cell-cell signaling (GO:0007267), heart development (GO:0007507), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), response to bacterium (GO:0009617), animal organ morphogenesis (GO:0009887), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of epithelial to mesenchymal transition (GO:0010718), negative regulation of steroid biosynthetic process (GO:0010894), positive regulation of phosphatase activity (GO:0010922), telencephalon development (GO:0021537), telencephalon regionalization (GO:0021978), positive regulation of Wnt signaling pathway (GO:0030177), bone mineralization (GO:0030282)

GO Molecular Function (9): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), growth factor activity (GO:0008083), phosphatase activator activity (GO:0019211), co-receptor binding (GO:0039706), protein serine/threonine kinase activator activity (GO:0043539), BMP receptor binding (GO:0070700), protein binding (GO:0005515), receptor ligand activity (GO:0048018)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cilium (GO:0005929), cell surface (GO:0009986), protein-containing complex (GO:0032991), ciliary transition zone (GO:0035869), BMP receptor complex (GO:0070724), enzyme activator complex (GO:0150005)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Signaling by TGFB family members	1
Elastic fibre formation	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX2	1
Extracellular matrix organization	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell differentiation	2
protein binding	2
receptor ligand activity	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
intracellular signaling cassette	1
system development	1
ossification	1
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
response to stress	1
response to decreased oxygen levels	1
chordate embryonic development	1
mesenchymal cell differentiation	1
regulation of protein phosphorylation	1
protein phosphorylation	1
positive regulation of protein modification process	1
positive regulation of phosphorylation	1
cartilage development	1
heart development	1
animal organ morphogenesis	1
organ induction	1
heart field specification	1
regulation of heart morphogenesis	1
cell-cell signaling	1
semi-lunar valve development	1
atrioventricular valve development	1
heart valve morphogenesis	1
heart morphogenesis	1
endocardial cushion development	1
mesenchyme morphogenesis	1
cardiac chamber formation	1
cardiac atrium morphogenesis	1
endocardial cushion morphogenesis	1
anatomical structure formation involved in morphogenesis	1
regulation of extracellular matrix constituent secretion	1
extracellular matrix constituent secretion	1
positive regulation of extracellular matrix organization	1

Protein interactions and networks

STRING

3054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BMP2	BMPR1A	P36894	998
BMP2	NOG	Q13253	996
BMP2	BMPR2	Q13873	996
BMP2	BMPR1B	P78366	996
BMP2	GREM1	O60565	988
BMP2	CHRD	Q9H2X0	986
BMP2	BMP7	P18075	975
BMP2	ACVR2B	Q13705	954
BMP2	FGF2	P09038	935
BMP2	BGLAP	P02818	932
BMP2	RUNX2	Q13950	931
BMP2	SPP1	P10451	920
BMP2	MGP	P08493	918
BMP2	FN1	P02751	898
BMP2	GREM2	Q9H772	897

IntAct

49 interactions, top by confidence:

A	B	Type	Score
BMP2	BMPR1A	psi-mi:“MI:0407”(direct interaction)	0.970
BMPR1A	BMP2	psi-mi:“MI:0407”(direct interaction)	0.970
BMP2	BMPR1A	psi-mi:“MI:0915”(physical association)	0.970
BMPR1A	BMP2	psi-mi:“MI:0915”(physical association)	0.970
BMP2	RGMB	psi-mi:“MI:0407”(direct interaction)	0.690
BMP2	Neo1	psi-mi:“MI:0915”(physical association)	0.600
BMP2	Neo1	psi-mi:“MI:0407”(direct interaction)	0.600
RGMA	BMP2	psi-mi:“MI:0407”(direct interaction)	0.560
BMP2	HJV	psi-mi:“MI:0407”(direct interaction)	0.560
BMP2	HJV	psi-mi:“MI:0915”(physical association)	0.540
HJV	BMP2	psi-mi:“MI:0407”(direct interaction)	0.540

BioGRID (28): BMP2 (Co-localization), BMP2 (Reconstituted Complex), BMP2 (Co-crystal Structure), BMPR2 (Affinity Capture-Western), BMP2 (Reconstituted Complex), BMPR1A (Reconstituted Complex), BMPR1B (Reconstituted Complex), ACVR2A (Reconstituted Complex), BMP2 (Affinity Capture-Western), COL2A1 (Affinity Capture-Western), COL2A1 (Reconstituted Complex), BMP2 (Affinity Capture-Western), BMP2 (Affinity Capture-Western), BMPR1A (Reconstituted Complex), BMPR1A (Reconstituted Complex)

ESM2 similar proteins: G7PWZ3, I6M4H4, O08717, O19006, O46564, O46576, O77755, O88959, O95390, P04087, P05111, P07994, P12643, P12644, P17490, P20863, P21274, P21275, P27106, P43021, P43028, P43029, P45657, P49000, P49001, P55101, P55105, P55106, P58166, Q04912, Q04997, Q06826, Q07104, Q29607, Q2KJH1, Q3HRV3, Q3S2X5, Q6HA10, Q6KF10, Q6PX77

Diamond homologs: A8E7N9, G5EEL5, O08717, O18828, O18830, O19006, O42222, O46564, O46576, O88959, O95390, O95393, O95972, P03970, P07713, P07995, P08476, P09534, P12643, P12644, P12645, P18075, P18331, P20722, P20863, P21274, P21275, P22003, P22004, P22444, P23359, P25703, P27092, P27539, P30884, P30885, P30886, P34820, P34821, P34822

SIGNOR signaling

25 interactions.

A	Effect	B	Mechanism
NOG	down-regulates	BMP2	binding
BMP2	up-regulates	ALPL
IHH	up-regulates	BMP2
RUNX2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
FGF2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
FGF9	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
GLI2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
BMP2	“up-regulates quantity by expression”	OMD	“transcriptional regulation”
BMP2	up-regulates	SMAD2
BMP2	“down-regulates quantity by repression”	SHH	“transcriptional regulation”
BMP2	up-regulates	SMAD1
BMP2	up-regulates	SMAD5
BMP2	up-regulates	SMAD9
BMP2	up-regulates	BMPR1A/1B/2	binding
BMP2	up-regulates	BMP2	binding
BMP2	up-regulates	SMAD1/5/8
BMP2	up-regulates	BMPR2	binding
BMP2	up-regulates	MAPK14
SOSTDC1	“down-regulates activity”	BMP2
BMP2	“up-regulates activity”	BMPR2	binding
BMP2	up-regulates	BMPR1A	binding
BMP2	“up-regulates activity”	BMPR1A	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by BMP	6	194.7×	4e-12
Signaling by TGFB family members	5	52.4×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
cellular response to BMP stimulus	5	200.6×	4e-09
BMP signaling pathway	8	114.6×	2e-13
osteoblast differentiation	5	43.3×	3e-06
positive regulation of gene expression	5	13.8×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

257 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	25
Likely pathogenic	11
Uncertain significance	150
Likely benign	47
Benign	8

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1075203	NM_001200.4(BMP2):c.197_198del (p.Arg66fs)	Pathogenic
1451444	NM_001200.4(BMP2):c.142G>T (p.Glu48Ter)	Pathogenic
1452466	NM_001200.4(BMP2):c.265C>T (p.Gln89Ter)	Pathogenic
1453645	NM_001200.4(BMP2):c.346+2T>C	Pathogenic
148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	Pathogenic
1697002	NM_001200.4(BMP2):c.754C>T (p.Gln252Ter)	Pathogenic
1703210	NM_001200.4(BMP2):c.962A>T (p.His321Leu)	Pathogenic
1703211	NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)	Pathogenic
2127008	NM_001200.4(BMP2):c.613G>T (p.Glu205Ter)	Pathogenic
253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	Pathogenic
2573988	NM_001200.4(BMP2):c.231dup (p.Tyr78fs)	Pathogenic
2574129	NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)	Pathogenic
2809346	NM_001200.4(BMP2):c.834_835del (p.Glu280fs)	Pathogenic
29614	NC_000020.11:g.6879489_6885384dup	Pathogenic
3062408	GRCh37/hg19 20p12.3(chr20:6296284-7092386)x1	Pathogenic
3248323	NC_000020.10:g.(?6302016)(7096518_?)del	Pathogenic
3248324	NC_000020.10:g.(?6758872)(6760201_?)del	Pathogenic
3384676	NM_001200.4(BMP2):c.217_218dup (p.Val74fs)	Pathogenic
3391939	GRCh37/hg19 20p12.3(chr20:6289592-8586513)x1	Pathogenic
3654432	NM_001200.4(BMP2):c.892A>T (p.Arg298Ter)	Pathogenic
393758	GRCh37/hg19 20p12.3(chr20:6713937-7303989)x1	Pathogenic
492935	NM_001200.4(BMP2):c.953dup (p.Tyr320fs)	Pathogenic
492936	NM_001200.4(BMP2):c.-7-2_-7-1delinsCC	Pathogenic
57236	GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1	Pathogenic
620208	NM_001200.4(BMP2):c.43C>T (p.Gln15Ter)	Pathogenic
1699318	NM_001200.4(BMP2):c.1191G>C (p.Ter397Tyr)	Likely pathogenic
2636252	NM_001200.4(BMP2):c.1026dup (p.Ala343fs)	Likely pathogenic
3029839	NM_001200.4(BMP2):c.326del (p.Val109fs)	Likely pathogenic
3362909	NM_001200.4(BMP2):c.843dup (p.Arg282fs)	Likely pathogenic
4083375	NM_001200.4(BMP2):c.326_327del (p.Val109fs)	Likely pathogenic

SpliceAI

670 predictions. Top by Δscore:

Variant	Effect	Δscore
20:6768871:TAAAG:T	donor_loss	1.0000
20:6768872:AAAGG:A	donor_loss	1.0000
20:6768873:AAGGT:A	donor_loss	1.0000
20:6768876:G:GA	donor_loss	1.0000
20:6768877:T:G	donor_loss	1.0000
20:6772086:G:GT	donor_gain	1.0000
20:6772099:G:GG	donor_gain	1.0000
20:6772748:A:G	donor_gain	1.0000
20:6778224:T:TA	acceptor_gain	1.0000
20:6778238:A:AG	acceptor_gain	1.0000
20:6778239:A:AG	acceptor_gain	1.0000
20:6778244:GA:G	acceptor_gain	1.0000
20:6768882:G:GT	donor_gain	0.9900
20:6770470:AAGG:A	donor_loss	0.9900
20:6770471:AGGTG:A	donor_loss	0.9900
20:6770472:GGTGA:G	donor_loss	0.9900
20:6770473:GTGAG:G	donor_loss	0.9900
20:6770474:T:A	donor_loss	0.9900
20:6770825:G:T	donor_gain	0.9900
20:6772748:A:AG	donor_gain	0.9900
20:6772796:GTT:G	donor_gain	0.9900
20:6778235:A:AG	acceptor_gain	0.9900
20:6778236:T:G	acceptor_gain	0.9900
20:6778243:A:AG	acceptor_gain	0.9900
20:6778244:G:GT	acceptor_gain	0.9900
20:6778244:GAAT:G	acceptor_gain	0.9900
20:6778244:GAATC:G	acceptor_gain	0.9900
20:6768831:G:GT	donor_gain	0.9800
20:6770750:G:T	donor_gain	0.9800
20:6770824:G:GT	donor_gain	0.9800

AlphaMissense

2606 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:6778784:T:A	C296S	1.000
20:6778784:T:C	C296R	1.000
20:6778785:G:A	C296Y	1.000
20:6778785:G:C	C296S	1.000
20:6778785:G:T	C296F	1.000
20:6778786:T:G	C296W	1.000
20:6778811:T:C	F305L	1.000
20:6778811:T:G	F305V	1.000
20:6778812:T:C	F305S	1.000
20:6778812:T:G	F305C	1.000
20:6778813:C:A	F305L	1.000
20:6778813:C:G	F305L	1.000
20:6778826:T:A	W310R	1.000
20:6778826:T:C	W310R	1.000
20:6778828:G:C	W310C	1.000
20:6778828:G:T	W310C	1.000
20:6778835:T:A	W313R	1.000
20:6778835:T:C	W313R	1.000
20:6778837:G:C	W313C	1.000
20:6778837:G:T	W313C	1.000
20:6778839:T:A	I314N	1.000
20:6778839:T:G	I314S	1.000
20:6778856:T:C	Y320H	1.000
20:6778856:T:G	Y320D	1.000
20:6778863:C:A	A322D	1.000
20:6778871:T:A	C325S	1.000
20:6778871:T:C	C325R	1.000
20:6778872:G:A	C325Y	1.000
20:6778872:G:C	C325S	1.000
20:6778872:G:T	C325F	1.000

dbSNP variants (sampled 300 via entrez): RS1000513364 (20:6765751 C>A,T), RS1001121450 (20:6767308 A>T), RS1001452454 (20:6770985 T>A,G), RS1001483355 (20:6770627 A>C), RS1001594647 (20:6777835 T>C), RS1001706585 (20:6767366 A>T), RS1002042069 (20:6768957 A>C,T), RS1002047205 (20:6777448 A>G), RS1002078965 (20:6776030 T>C), RS1002286710 (20:6766911 C>T), RS1002745666 (20:6766703 G>T), RS1003126041 (20:6769737 G>C), RS1003532224 (20:6779940 A>G), RS1003594856 (20:6772722 A>G), RS1003695532 (20:6776000 A>G)

Disease associations

OMIM: gene MIM:112261 | disease phenotypes: MIM:617877, MIM:607411, MIM:608808, MIM:108800, MIM:614429, MIM:112600, MIM:617439, MIM:211980

GenCC curated gene-disease

Disease	Classification	Inheritance
brachydactyly type A2	Strong	Autosomal dominant
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Strong	Autosomal dominant

Mondo (10): short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (MONDO:0100297), PDA1 (MONDO:0024560), dextro-looped transposition of the great arteries (MONDO:0019443), atrial septal defect 1 (MONDO:0007172), short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MONDO:0031439), ventricular septal defect 1 (MONDO:0013746), brachydactyly type A2 (MONDO:0007216), craniosynostosis 7 (MONDO:0044315), hearing loss disorder (MONDO:0005365), lung cancer (MONDO:0008903)

Orphanet (3): Congenitally uncorrected transposition of the great arteries (Orphanet:860), Interatrial communication (Orphanet:1478), Brachydactyly type A2 (Orphanet:93396)

HPO phenotypes

102 total (30 of 102 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000029	Testicular atrophy
HP:0000044	Hypogonadotropic hypogonadism
HP:0000141	Amenorrhea
HP:0000160	Narrow mouth
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000337	Broad forehead
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000391	Thickened helices
HP:0000405	Conductive hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000664	Synophrys
HP:0000678	Dental crowding
HP:0000767	Pectus excavatum

GWAS associations

94 associations (top):

Study	Trait	p-value
GCST000175_17	Height	2.000000e-08
GCST000298_7	Body mass index	6.000000e-06
GCST000817_124	Height	2.000000e-24
GCST001745_1	Sagittal craniosynostosis	1.000000e-39
GCST001762_3	Obesity-related traits	1.000000e-06
GCST001787_5	Colorectal cancer	7.000000e-06
GCST001858_5	Refractive error	2.000000e-08
GCST001956_16	Height	5.000000e-18
GCST002021_2	Body mass index	2.000000e-06
GCST002115_20	Axial length	4.000000e-07
GCST002411_5	Colorectal cancer	3.000000e-06
GCST002626_14	Vertical cup-disc ratio	2.000000e-07
GCST002647_166	Height	1.000000e-48
GCST002647_3	Height	3.000000e-29
GCST002702_106	Height	9.000000e-15
GCST002762_20	Optic cup area	2.000000e-10
GCST002762_5	Optic cup area	2.000000e-09
GCST002782_67	Waist-to-hip ratio adjusted for body mass index	1.000000e-07
GCST002782_68	Waist-to-hip ratio adjusted for body mass index	7.000000e-08
GCST002782_69	Waist-to-hip ratio adjusted for body mass index	3.000000e-14
GCST002782_70	Waist-to-hip ratio adjusted for body mass index	3.000000e-08
GCST002782_71	Waist-to-hip ratio adjusted for body mass index	2.000000e-07
GCST002782_72	Waist-to-hip ratio adjusted for body mass index	3.000000e-14
GCST002783_306	Body mass index	1.000000e-06
GCST002783_611	Body mass index	7.000000e-07
GCST002919_17	Colorectal cancer	5.000000e-07
GCST002919_18	Colorectal cancer	2.000000e-06
GCST002938_12	Copper levels	1.000000e-06
GCST003017_22	Colorectal cancer	1.000000e-07
GCST003319_2	Major depressive disorder (stressful life events interaction)	8.000000e-09

EFO canonical traits (26, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0700076	isolated scaphocephaly
EFO:0004626	IGFBP-3 measurement
EFO:0005318	axial length measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004778	self rated health
EFO:0007781	stressful life event measurement
EFO:0005054	QRS complex
EFO:0007742	QRS amplitude
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0006939	cup-to-disc ratio measurement
EFO:0004312	vital capacity
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0009270	heel bone mineral density
EFO:0004847	age at onset
EFO:0005763	pulse pressure measurement
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0004530	triglyceride measurement
EFO:0010698	retinal break
EFO:0004327	electrocardiography
EFO:0009819	comparative body size at age 10, self-reported
EFO:0600008	mitochondrial heteroplasmy measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C537089	Brachydactyly type A2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1926496 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

132 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects expression, affects cotreatment, decreases expression	5
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression, decreases expression	5
Dexamethasone	decreases reaction, increases reaction, affects reaction, affects cotreatment, increases expression	4
Tretinoin	increases expression, increases reaction	4
Cadmium Chloride	decreases expression, increases abundance, increases expression, affects cotreatment	4
Simvastatin	decreases reaction, increases expression, increases secretion	4
methylmercuric chloride	decreases expression, increases expression	3
icariin	increases expression	3
Cadmium	decreases expression, increases abundance, increases expression	3
Progesterone	affects cotreatment, decreases expression, decreases reaction, decreases abundance	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, affects expression, affects reaction	3
cobaltiprotoporphyrin	decreases expression, decreases reaction, affects cotreatment, increases expression	2
ascorbate-2-phosphate	increases reaction, decreases reaction, affects cotreatment, increases expression, affects reaction	2
trichostatin A	affects cotreatment, increases expression	2
cobaltous chloride	affects reaction, increases expression, affects cotreatment	2
beta-glycerophosphoric acid	affects cotreatment, increases expression, affects reaction, increases reaction, decreases reaction	2
entinostat	increases expression, affects cotreatment	2
Atorvastatin	increases secretion, increases expression	2
Resveratrol	decreases reaction, increases reaction, increases expression, affects binding	2
Zoledronic Acid	increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	increases response to substance, decreases expression, increases abundance	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Calcitriol	increases expression, increases reaction	2
Chelating Agents	affects binding, decreases expression	2
Cisplatin	decreases response to substance, increases expression, affects cotreatment, decreases expression	2
Copper	affects binding, decreases expression	2
Estradiol	affects cotreatment, decreases expression, decreases reaction, increases abundance	2
Lipopolysaccharides	affects response to substance, increases expression, increases reaction	2

ChEMBL screening assays

22 unique, capped per target: 18 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1930799	Binding	Increase in human recombinant BMP2-mediated osteoblastogenesis in mouse C2C12 cells assessed as induction of alkaline phosphatase activity after 6 days	Butamben derivatives enhance BMP-2-stimulated commitment of C2C12 cells into osteoblasts with induction of voltage-gated potassium channel expression. — Bioorg Med Chem Lett
CHEMBL1930809	Functional	Increase in human recombinant BMP2-mediated osteoblastogenesis assessed as increase in alkaline phosphatase mRNA expression in mouse C2C12 at 10 uM co-treated with BMP2 antagonist noggin on day 3 measured after 6 days by SYBR-based RT-PCR	Butamben derivatives enhance BMP-2-stimulated commitment of C2C12 cells into osteoblasts with induction of voltage-gated potassium channel expression. — Bioorg Med Chem Lett

Cellosaurus cell lines

10 cell lines: 4 transformed cell line, 3 embryonic stem cell, 2 cancer cell line, 1 telomerase immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0I9	SEES3-1V human BMP2, clone1	Embryonic stem cell	Male
CVCL_A0J0	SEES3-1V human BMP2, clone2	Embryonic stem cell	Male
CVCL_A0J1	SEES3-1V human BMP2, clone3	Embryonic stem cell	Male
CVCL_B1LC	Abcam HeLa BMP2 KO	Cancer cell line	Female
CVCL_C0BL	Abcam Caco-2 BMP2 KO	Cancer cell line	Male
CVCL_C3ND	rCHO(hBMP2)-C8	Transformed cell line	Female
CVCL_C6VX	MSOD-B	Telomerase immortalized cell line	Female
CVCL_D9A4	Ubigene HEK293 BMP2 KO	Transformed cell line	Female
CVCL_E4IF	EMC-G5	Transformed cell line	Female
CVCL_E4IG	EMC-G5 G5P.7A 3C9	Transformed cell line	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01755728	PHASE3	COMPLETED	Paracetamol (Acetaminophen) for Closure of PDA in Preterm Infants
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
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