BMP7
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Also known as OP-1
Summary
BMP7 (bone morphogenetic protein 7, HGNC:1074) is a protein-coding gene on chromosome 20q13.31, encoding Bone morphogenetic protein 7 (P18075). Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, hematopoiesis, neurogenesis and skeletal morphogenesis.
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, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients.
Source: NCBI Gene 655 — RefSeq curated summary.
At a glance
- Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Moderate, GenCC) — +4 more curated relationships
- GWAS associations: 23
- Clinical variants (ClinVar): 140 total — 2 pathogenic
- Transcription factor: yes — 10 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001719
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1074 |
| Approved symbol | BMP7 |
| Name | bone morphogenetic protein 7 |
| Location | 20q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OP-1 |
| Ensembl gene | ENSG00000101144 |
| Ensembl biotype | protein_coding |
| OMIM | 112267 |
| Entrez | 655 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000395863, ENST00000395864, ENST00000433911, ENST00000450594, ENST00000460817, ENST00000463939, ENST00000476877, ENST00000524700, ENST00000530870
RefSeq mRNA: 1 — MANE Select: NM_001719
NM_001719
CCDS: CCDS13455
Canonical transcript exons
ENST00000395863 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001523115 | 57168753 | 57171108 |
| ENSE00001908937 | 57265705 | 57266641 |
| ENSE00003463644 | 57228229 | 57228421 |
| ENSE00003586843 | 57202475 | 57202623 |
| ENSE00003601695 | 57183722 | 57183919 |
| ENSE00003614759 | 57174931 | 57175007 |
| ENSE00003620144 | 57173200 | 57173310 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 97.34.
FANTOM5 (CAGE): breadth broad, TPM avg 18.7444 / max 326.3417, expressed in 599 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188100 | 11.9953 | 566 |
| 188098 | 3.9152 | 512 |
| 188097 | 1.6663 | 463 |
| 188096 | 0.5525 | 283 |
| 188099 | 0.3044 | 177 |
| 209174 | 0.1707 | 110 |
| 188095 | 0.1401 | 75 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 97.34 | gold quality |
| ventricular zone | UBERON:0003053 | 96.79 | gold quality |
| endometrium epithelium | UBERON:0004811 | 94.32 | gold quality |
| cranial nerve II | UBERON:0000941 | 93.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.83 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.64 | silver quality |
| thyroid gland | UBERON:0002046 | 89.41 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.19 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.98 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.79 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.73 | silver quality |
| esophagus mucosa | UBERON:0002469 | 87.61 | gold quality |
| type B pancreatic cell | CL:0000169 | 87.49 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.37 | gold quality |
| amygdala | UBERON:0001876 | 86.97 | gold quality |
| medial globus pallidus | UBERON:0002477 | 86.90 | gold quality |
| sural nerve | UBERON:0015488 | 86.59 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.35 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.83 | gold quality |
| skin of leg | UBERON:0001511 | 85.52 | gold quality |
| putamen | UBERON:0001874 | 85.25 | gold quality |
| embryo | UBERON:0000922 | 84.94 | gold quality |
| spinal cord | UBERON:0002240 | 84.78 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.48 | gold quality |
| gingival epithelium | UBERON:0001949 | 84.28 | gold quality |
| placenta | UBERON:0001987 | 84.22 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 83.93 | gold quality |
| globus pallidus | UBERON:0001875 | 83.78 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.73 | gold quality |
| zone of skin | UBERON:0000014 | 83.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-36552 | no | 63.56 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
10 targets.
| Target | Regulation |
|---|---|
| DLK1 | Unknown |
| HAS2 | Activation |
| HYAL1 | Repression |
| HYAL2 | Repression |
| MMP13 | Repression |
| NEUROG2 | Activation |
| PPARG | Activation |
| PPARGC1A | Unknown |
| PRDM16 | Unknown |
| UCP1 | Unknown |
Upstream regulators (CollecTRI, top): BMP4, GLI2, HAND2, HDAC2, HOXA13, LDB1, LMO4, NFATC1, SMAD1, SP1, TCF4, TP53, VDR, YBX1
miRNA regulators (miRDB)
77 targeting BMP7, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
Literature-anchored findings (GeneRIF, showing 40)
- Transforming growth factor-beta1 supports the rapid morphogenesis of heterotopic endochondral bone initiated by human osteogenic protein-1 via the synergistic upregulation of molecular markers (PMID:11769973)
- age related decline in level may contribute to the elevated susceptibility of cartilage to the degenerative process. (PMID:12385776)
- crystal structure of the antagonist Noggin bound to BMP-7, which shows that Noggin inhibits BMP signalling by blocking the molecular interfaces of the binding epitopes for both type I and type II receptors (PMID:12478285)
- BMP-7 signaling is inhibited by glypican 3 in hepatocellular carcinoma cells (PMID:12478660)
- BMP-7 inhibits constitutive and IL-1 beta-induced expression of monocyte chemoattractant protein-1 in mesangial cells, partly through suppression of c-Jun N-terminal kinase activity and AP-1 binding activity. (PMID:12594282)
- crystal structure of BMP7 in complex with the extracellular domain (ECD) of the activin type II receptor (PMID:12667445)
- IGF-1 and OP-1 could be key physiological regulators of MMP-13 gene expression (PMID:12734180)
- 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)
- BMP-7 is expressed in various breast cancer cell lines in a cell line-specific manner (PMID:12792780)
- BMP-7 plays an important role in the regulation of anti-inflammatory response in the adult gut tissue. (PMID:12811818)
- Overall decrease in endogenous OP-1 in degenerated and OA tissue suggests that OP-1 could be one of the factors responsible for normal homeostasis and matrix integrity in cartilage. (PMID:12919879)
- Modulation of endogenous osteogenic protein-1 (OP-1) by interleukin-1 in adult human articular cartilage. (PMID:12925612)
- OP-1 stimulated cell proliferation and mRNA expression of several biochemical markers in this ligament cell culture model (PMID:14587033)
- In the extraskeletal model, newly formed bone was evident in the presence of rhBMP-7 (PMID:14751565)
- results suggest expression of the Ihh gene, which contains multiple Smad binding sites, may be finely regulated by a gradient of bone morphogenetic protein BMP7 (PMID:14981086)
- Stimulation of kidney cells with BMP-7 induced hyaluronan synthase 2 mRNA expression and decreased the expression of Hyal1 and Hyal2. (PMID:15100360)
- The effect of BMP-7 on TGF-beta1 synthesis in TNF-alpha-stimulated cells was abrogated by disruption of CD44-hyaluronan interactions, suggesting that it was due to increased monocyte binding to hyaluronan on the cell surface. (PMID:15574511)
- To analyze the expression of bone morphogenetic proteins (BMPs) in prostate and breast cancers with established metastasis in bone (PMID:15861517)
- the prodomain of BMP-7 has a role in targeting the BMP-7 complex to the extracellular matrix (PMID:15929982)
- BMP7 induced Smad phosphorylation in a dose-dependent manner, with Smad activation clearly demonstrable in prostate adenocarcinoma. (PMID:15994952)
- BMPs influence the formation of the osteolytic prostate cancer metastases, and treatment modalities that inhibit BMP activity may limit the progression of the lytic component of prostate cancer metastases. (PMID:16126463)
- Our results are suggesting a possible functional role for BMP7 in breast cancer development. (PMID:16419056)
- Measurement of OP-1 in joint fluid may have value in the clinical evaluation of joint diseases. (PMID:16646979)
- BMP7 could restore the homeostatic balance of pSmad signaling found in normal kidneys, thereby preventing or reversing the development of chronic allograft nephropathy. (PMID:16686760)
- Topical and differential expression of BMP-2/4 and BMP-7 mRNA and protein was found in bursa tissue. (PMID:16719933)
- BMP-7 expression in the adult human kidney appears to be more restricted than in the fetal situation and predominantly found in the distal nephron. (PMID:16807538)
- Osteogenic protein-1 (OP-1 has shown particular potential in clinical trials as a bone graft substitute . (PMID:16831023)
- Recombinant human BMP-7 plays a role in the migration of bone-forming cells. (PMID:16846353)
- maintenance of renal BMP-7 during the evolution of diabetic nephropathy reduces diabetic renal injury, especially podocyte dropout. The findings also establish a role for endogenous glomerular BMP-7 as an autocrine regulator of podocyte integrity in vivo. (PMID:16899516)
- BMP7 expression was almost completely absent at the invasive margin of esophageal tumors, but present in the central area. It may antagonize TGF-beta1’s role in invasiveness. (PMID:17018615)
- strong BMP staining is seen in maturing chondrocytes, and thus may play a role in chondrocyte differentiation and/or apoptosis; BMP release by osteoclasts may promote osteoblastic differentiation at sites of bone remodeling (PMID:17262821)
- These results indicate that mutations are rare in FGF8 and FGFR2 in hypospadias, but gene variants may influence the risk. (PMID:17264867)
- Immunohistochemistry of cirrhotic human liver demonstrated upregulated BMP7 protein expression in hepatocytes as compared with normal human liver. (PMID:17415633)
- Proinvasive activity of BMP7 through SMAD4/src-independent and ERK/Rac/JNK-dependent signaling pathways in colon cancer cells is reported. (PMID:17478078)
- BMP7 promotes the adipogenic and not the osteogenic or chondrogenic lineage development of human stem cells (PMID:17497692)
- induction of BMP7 expression is frequent in melanomas and may serve as a novel prognostic marker of progression in melanoma patients (PMID:17522432)
- BMP-7 was more potent than BMP-2 in inducing chondrogenesis, but the properties of the differentiated tissue were similar in each case (PMID:17530715)
- The presence of BMP-7 and IL-1Ra antagonized the anti-anabolic effects of lipopolysaccharide (PMID:17530716)
- Expression of BMP-4 and BMP-7 and their receptors in human ovaries from fetuses as well as adults. (PMID:17624341)
- Approximately half of the prostate tumors displayed increased copy numbers of the BMP2, BMP5, BMP7, and UC28 gene loci, which may account for their abnormal gene expression patterns in neoplastic prostate tissue. (PMID:17656261)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bmp7a | ENSDARG00000018260 |
| danio_rerio | bmp7b | ENSDARG00000063230 |
| mus_musculus | Bmp7 | ENSMUSG00000008999 |
| rattus_norvegicus | Bmp7 | ENSRNOG00000053384 |
Paralogs (31): TGFB2 (ENSG00000092969), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), 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 7 — P18075 (reviewed: P18075)
Alternative names: Osteogenic protein 1
All UniProt accessions (5): P18075, A8K571, B1AKZ9, B1AL00, H0Y4B5
UniProt curated annotations — full annotation on UniProt →
Function. Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, hematopoiesis, neurogenesis and skeletal morphogenesis. Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2A. Once all three components are bound together in a complex at the cell surface, ACVR2A phosphorylates and activates ACVR1. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. For specific functions such as growth cone collapse in developing spinal neurons and chemotaxis of monocytes, also uses BMPR2 as type II receptor. Can also signal through non-canonical pathways such as P38 MAP kinase signaling cascade that promotes brown adipocyte differentiation through activation of target genes, including members of the SOX family of transcription factors. Promotes the expression of HAMP, this is repressed by its interaction with ERFE.
Subunit / interactions. Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with TWSG1. Interacts with FBN1 (via N-terminal domain) and FBN2. Interacts with type I receptor ACVR1. Interacts with type II receptor ACVR2A. Interacts with NOG; this interaction inhibits canonical BMP signaling. Interacts with SCUBE3. Interacts with ERFE; the interaction inhibits BMP-induced transcription of HAMP. Interacts with TGFBR3.
Subcellular location. Secreted.
Tissue specificity. Expressed in the kidney and bladder. Lower levels seen in the brain.
Post-translational modifications. Several N-termini starting at positions 293, 300, 315 and 316 have been identified by direct sequencing resulting in secretion of different mature forms.
Similarity. Belongs to the TGF-beta family.
RefSeq proteins (1): NP_001710* (*=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 |
Pfam: PF00019, PF00688
UniProt features (28 total): strand 8, disulfide bond 4, helix 4, glycosylation site 4, sequence variant 2, turn 2, signal peptide 1, propeptide 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1LXI | X-RAY DIFFRACTION | 2 |
| 1M4U | X-RAY DIFFRACTION | 2.42 |
| 1BMP | X-RAY DIFFRACTION | 2.8 |
| 1LX5 | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P18075-F1 | 76.50 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 363–430, 395, 330–396, 359–428
Glycosylation sites (4): 187, 302, 321, 372
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-2129379 | Molecules associated with elastic fibres |
| R-HSA-9844594 | Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-1566948 | Elastic fibre formation |
| R-HSA-9843743 | Transcriptional regulation of brown and beige adipocyte differentiation |
| R-HSA-9843745 | Adipogenesis |
MSigDB gene sets: 553 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_DENDRITE_DEVELOPMENT, GOBP_LABYRINTHINE_LAYER_DEVELOPMENT, GOBP_HINDBRAIN_DEVELOPMENT, E2F_Q4_01, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CELL_MIGRATION_INVOLVED_IN_HEART_DEVELOPMENT, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION
GO Biological Process (93): skeletal system development (GO:0001501), osteoblast differentiation (GO:0001649), metanephros development (GO:0001656), ureteric bud development (GO:0001657), mesoderm formation (GO:0001707), mesonephros development (GO:0001823), epithelial to mesenchymal transition (GO:0001837), endocardial cushion formation (GO:0003272), pericardium morphogenesis (GO:0003344), axon guidance (GO:0007411), heart development (GO:0007507), embryonic pattern specification (GO:0009880), positive regulation of gene expression (GO:0010628), negative regulation of striated muscle cell apoptotic process (GO:0010664), positive regulation of epithelial to mesenchymal transition (GO:0010718), dendrite development (GO:0016358), neural fold elevation formation (GO:0021502), embryonic limb morphogenesis (GO:0030326), positive regulation of bone mineralization (GO:0030501), BMP signaling pathway (GO:0030509), positive regulation of epithelial cell differentiation (GO:0030858), hindbrain development (GO:0030902), response to estradiol (GO:0032355), response to vitamin D (GO:0033280), positive regulation of heterotypic cell-cell adhesion (GO:0034116), ameloblast differentiation (GO:0036305), odontogenesis of dentin-containing tooth (GO:0042475), positive regulation of apoptotic process (GO:0043065), response to peptide hormone (GO:0043434), negative regulation of neuron differentiation (GO:0045665), positive regulation of neuron differentiation (GO:0045666), positive regulation of osteoblast differentiation (GO:0045669), negative regulation of Notch signaling pathway (GO:0045746), negative regulation of cell cycle (GO:0045786), negative regulation of mitotic nuclear division (GO:0045839), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic camera-type eye morphogenesis (GO:0048596), cardiac muscle tissue development (GO:0048738)
GO Molecular Function (7): cytokine activity (GO:0005125), growth factor activity (GO:0008083), heparin binding (GO:0008201), BMP receptor binding (GO:0070700), protein binding (GO:0005515), protein serine/threonine kinase activator activity (GO:0043539), receptor ligand activity (GO:0048018)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), vesicle (GO:0031982)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Elastic fibre formation | 1 |
| Transcriptional regulation of brown and beige adipocyte differentiation | 1 |
| Extracellular matrix organization | 1 |
| Adipogenesis | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| kidney development | 2 |
| anatomical structure formation involved in morphogenesis | 2 |
| receptor ligand activity | 2 |
| system development | 1 |
| ossification | 1 |
| cell differentiation | 1 |
| mesonephric tubule development | 1 |
| formation of primary germ layer | 1 |
| mesoderm morphogenesis | 1 |
| mesenchymal cell differentiation | 1 |
| endocardial cushion morphogenesis | 1 |
| morphogenesis of an epithelial sheet | 1 |
| embryonic morphogenesis | 1 |
| pericardium development | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| animal organ development | 1 |
| circulatory system development | 1 |
| pattern specification process | 1 |
| embryo development | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of muscle cell apoptotic process | 1 |
| striated muscle cell apoptotic process | 1 |
| regulation of striated muscle cell apoptotic process | 1 |
| epithelial to mesenchymal transition | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| positive regulation of cell differentiation | 1 |
| positive regulation of multicellular organismal process | 1 |
| neuron projection development | 1 |
| anatomical structure development | 1 |
| neural fold formation | 1 |
| limb morphogenesis | 1 |
| embryonic appendage morphogenesis | 1 |
| bone mineralization | 1 |
| regulation of bone mineralization | 1 |
| positive regulation of ossification | 1 |
| positive regulation of biomineral tissue development | 1 |
| cellular response to BMP stimulus | 1 |
Protein interactions and networks
STRING
2952 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BMP7 | NOG | Q13253 | 997 |
| BMP7 | BMPR2 | Q13873 | 997 |
| BMP7 | BMPR1A | P36894 | 996 |
| BMP7 | ACVR1 | Q04771 | 995 |
| BMP7 | ACVR2A | P27037 | 993 |
| BMP7 | BMPR1B | P78366 | 993 |
| BMP7 | FST | P19883 | 989 |
| BMP7 | ACVR2B | Q13705 | 985 |
| BMP7 | BMP2 | P12643 | 975 |
| BMP7 | BMP4 | P12644 | 953 |
| BMP7 | CHRD | Q9H2X0 | 900 |
| BMP7 | BMP8A | Q7Z5Y6 | 882 |
| BMP7 | BMP8B | P34820 | 879 |
| BMP7 | ADARB1 | P78555 | 871 |
| BMP7 | FBN1 | P35555 | 859 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BMP7 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRIM27 | BMP7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BMP7 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | BMP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP12-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | BEGAIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | BMP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | BMP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | CCDC125 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP9-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP7 | KRTAP3-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAC | COCH | psi-mi:“MI:0914”(association) | 0.530 |
| PLAUR | XRCC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PRG3 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| BMP7 | NOG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BMP7 | Acvr2a | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BMP7 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BMP7 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BMP7 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.370 |
| BMP7 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| DKKL1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM4 | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRK | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| TAZ | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| SLAMF1 | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (108): BMP7 (Two-hybrid), KRTAP5-9 (Two-hybrid), TRIM27 (Two-hybrid), MTUS2 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), BMP7 (Affinity Capture-MS), BMP7 (Affinity Capture-MS), BMP7 (Affinity Capture-MS), UBR1 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), GSTCD (Affinity Capture-MS)
ESM2 similar proteins: A8WCC4, O19011, O93449, P01137, P03970, P04088, P04202, P07200, P07995, P08476, P09529, P09531, P09533, P10600, P15203, P16047, P17125, P17246, P17247, P17491, P18075, P18331, P18341, P23359, P27092, P27093, P34820, P34821, P42917, P43032, P49002, P50414, P54831, P55102, P55103, P55104, P57785, Q04906, Q04998, Q04999
Diamond homologs: A1C2U3, A1C2U6, A1C2U7, A1C2V0, A1C2V5, A8E7N9, G5EEL5, O08689, O14793, O18828, O18830, O18831, O18836, O35312, O42220, O42221, O42222, O46576, O61643, O95390, O95393, P09534, P12644, P12645, P17491, P18075, P20722, P20863, P22003, P22004, P22444, P23359, P27091, P27539, P35621, P43026, P43027, P43028, P43029, P48970
SIGNOR signaling
25 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| BMP7 | up-regulates | ACTR2 | binding |
| BMP7 | “down-regulates quantity by repression” | DLK1 | “transcriptional regulation” |
| BMP7 | up-regulates | Brown_adipogenesis | |
| BMP7 | up-regulates | MAPK14 | |
| BMP7 | “up-regulates quantity by expression” | PPARGC1A | “transcriptional regulation” |
| BMP7 | “up-regulates quantity by expression” | PRDM16 | “transcriptional regulation” |
| BMP7 | “up-regulates quantity by expression” | UCP1 | “transcriptional regulation” |
| BMP7 | up-regulates | PRDM16 | “transcriptional regulation” |
| BMP7 | up-regulates | PPARGC1A | “transcriptional regulation” |
| BMP7 | up-regulates | UCP1 | “transcriptional regulation” |
| BMP7 | down-regulates | DLK1 | “transcriptional regulation” |
| BMP7 | up-regulates | BMPR1A/1B/2 | binding |
| BMP7 | “up-regulates activity” | BMPR1A/1B/2 | binding |
| BMP7 | up-regulates | BMP7 | binding |
| BMP7 | “down-regulates quantity by repression” | MMP13 | “transcriptional regulation” |
| BMP7 | up-regulates | BMPR2 | binding |
| BMP7 | up-regulates | ACVR2A | binding |
| BMP7 | up-regulates | ACVR2B | binding |
| BMP7 | “up-regulates quantity by expression” | PPARG | “transcriptional regulation” |
| BMP7 | up-regulates | ACVR1/BMPR2 | binding |
| BMP7 | up-regulates | ACVR1 | binding |
| SOSTDC1 | “down-regulates activity” | BMP7 | |
| SMAD1/4 | “up-regulates quantity by expression” | BMP7 | “transcriptional regulation” |
| NOG | “down-regulates activity” | BMP7 | binding |
| SOX17/POU5F1 | “up-regulates quantity by expression” | BMP7 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 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 |
|---|---|---|---|
| Keratinization | 7 | 11.5× | 3e-04 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 25 |
| Benign | 34 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1702933 | NM_001719.3(BMP7):c.254A>T (p.Asp85Val) | Pathogenic |
| 1702934 | NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) | Pathogenic |
SpliceAI
2055 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:57171105:GGACC:G | acceptor_loss | 1.0000 |
| 20:57171106:GACC:G | acceptor_loss | 1.0000 |
| 20:57171107:ACCTG:A | acceptor_loss | 1.0000 |
| 20:57171108:CCT:C | acceptor_loss | 1.0000 |
| 20:57171109:C:CC | acceptor_gain | 1.0000 |
| 20:57171109:C:G | acceptor_loss | 1.0000 |
| 20:57171110:T:C | acceptor_loss | 1.0000 |
| 20:57171115:C:CT | acceptor_gain | 1.0000 |
| 20:57171117:C:CT | acceptor_gain | 1.0000 |
| 20:57173198:A:AC | donor_gain | 1.0000 |
| 20:57173199:C:CC | donor_gain | 1.0000 |
| 20:57173199:CCAG:C | donor_gain | 1.0000 |
| 20:57173306:CAGTC:C | acceptor_gain | 1.0000 |
| 20:57173309:TC:T | acceptor_gain | 1.0000 |
| 20:57173309:TCC:T | acceptor_loss | 1.0000 |
| 20:57173310:CC:C | acceptor_gain | 1.0000 |
| 20:57173310:CCT:C | acceptor_loss | 1.0000 |
| 20:57173311:C:CC | acceptor_gain | 1.0000 |
| 20:57174925:CCTTA:C | donor_loss | 1.0000 |
| 20:57174926:CTTAC:C | donor_loss | 1.0000 |
| 20:57174927:TTACC:T | donor_loss | 1.0000 |
| 20:57174928:TAC:T | donor_loss | 1.0000 |
| 20:57174929:A:AT | donor_loss | 1.0000 |
| 20:57175039:CCAG:C | acceptor_gain | 1.0000 |
| 20:57175040:CAG:C | acceptor_gain | 1.0000 |
| 20:57175041:A:T | acceptor_gain | 1.0000 |
| 20:57183748:T:TA | donor_gain | 1.0000 |
| 20:57202473:A:AC | donor_gain | 1.0000 |
| 20:57202473:ACCAT:A | donor_gain | 1.0000 |
| 20:57202474:C:CC | donor_gain | 1.0000 |
AlphaMissense
2872 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:57170965:G:C | C430W | 1.000 |
| 20:57170966:C:A | C430F | 1.000 |
| 20:57170966:C:G | C430S | 1.000 |
| 20:57170966:C:T | C430Y | 1.000 |
| 20:57170967:A:G | C430R | 1.000 |
| 20:57170967:A:T | C430S | 1.000 |
| 20:57170969:C:T | G429D | 1.000 |
| 20:57170970:C:A | G429C | 1.000 |
| 20:57170970:C:G | G429R | 1.000 |
| 20:57170971:A:C | C428W | 1.000 |
| 20:57170972:C:A | C428F | 1.000 |
| 20:57170972:C:G | C428S | 1.000 |
| 20:57170972:C:T | C428Y | 1.000 |
| 20:57170973:A:G | C428R | 1.000 |
| 20:57170973:A:T | C428S | 1.000 |
| 20:57170981:A:T | V425D | 1.000 |
| 20:57171005:A:G | L417P | 1.000 |
| 20:57171011:A:T | V415D | 1.000 |
| 20:57171035:A:G | L407P | 1.000 |
| 20:57171035:A:T | L407H | 1.000 |
| 20:57171038:A:T | V406D | 1.000 |
| 20:57171053:A:G | L401P | 1.000 |
| 20:57171062:G:T | P398H | 1.000 |
| 20:57171067:A:C | C396W | 1.000 |
| 20:57171068:C:A | C396F | 1.000 |
| 20:57171068:C:G | C396S | 1.000 |
| 20:57171068:C:T | C396Y | 1.000 |
| 20:57171069:A:G | C396R | 1.000 |
| 20:57171069:A:T | C396S | 1.000 |
| 20:57173201:A:G | L382P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000069852 (20:57256642 T>A,G), RS1000074303 (20:57225309 A>G), RS1000085727 (20:57219658 G>T), RS1000085941 (20:57180904 A>G), RS1000131296 (20:57245172 T>C), RS1000135703 (20:57254321 C>G), RS1000155338 (20:57220913 G>A), RS1000227383 (20:57213545 C>T), RS1000240693 (20:57216670 G>A), RS1000259280 (20:57252960 G>A), RS1000336983 (20:57247965 T>C), RS1000350194 (20:57256967 G>A), RS1000354552 (20:57192350 G>A), RS1000365857 (20:57174315 C>T), RS1000449807 (20:57185250 G>A)
Disease associations
OMIM: gene MIM:112267 | disease phenotypes: MIM:614429, MIM:615779, MIM:187500, MIM:614433, MIM:610805, MIM:616892, MIM:106700
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| multiple congenital anomalies/dysmorphic syndrome | Moderate | Autosomal dominant |
| hypospadias | Limited | Autosomal dominant |
| isolated craniosynostosis | Limited | Autosomal dominant |
| Mayer-Rokitansky-Kuster-Hauser syndrome | Limited | Autosomal dominant |
| congenital anomaly of kidney and urinary tract | Limited | Autosomal dominant |
Mondo (11): ventricular septal defect 1 (MONDO:0013746), congenital heart defects, multiple types, 4 (MONDO:0014344), tetralogy of fallot (MONDO:0008542), atrial septal defect 8 (MONDO:0013750), congenital anomaly of kidney and urinary tract (MONDO:0019719), nephrotic syndrome, type 12 (MONDO:0014817), congenital total pulmonary venous return anomaly (MONDO:0007130), hypospadias (MONDO:0005345), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042), isolated craniosynostosis (MONDO:0015337), Mayer-Rokitansky-Kuster-Hauser syndrome (MONDO:0017771)
Orphanet (5): Tetralogy of Fallot (Orphanet:3303), Interatrial communication (Orphanet:1478), Renal or urinary tract malformation (Orphanet:93545), Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Congenital total pulmonary venous return anomaly (Orphanet:99125)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000509_3 | Response to citalopram treatment | 3.000000e-06 |
| GCST000509_5 | Response to citalopram treatment | 1.000000e-06 |
| GCST001134_20 | White blood cell types | 9.000000e-07 |
| GCST003075_72 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-07 |
| GCST003472_3 | Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder | 5.000000e-06 |
| GCST003996_35 | Monobrow | 2.000000e-19 |
| GCST003999_9 | Nose size | 3.000000e-09 |
| GCST004070_4 | Cerebrospinal P-tau181p levels | 8.000000e-08 |
| GCST004611_164 | High light scatter reticulocyte count | 6.000000e-14 |
| GCST004612_184 | High light scatter reticulocyte percentage of red cells | 7.000000e-13 |
| GCST004619_14 | Reticulocyte fraction of red cells | 4.000000e-20 |
| GCST004622_89 | Reticulocyte count | 8.000000e-22 |
| GCST004780_2 | Cortisol levels (saliva) | 9.000000e-06 |
| GCST006186_8 | Systolic blood pressure x smoking status (current vs non-current) interaction (1df test) | 3.000000e-08 |
| GCST006193_7 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 6.000000e-07 |
| GCST006194_9 | Diastolic blood pressure x smoking status (current vs non-current) interaction (1df test) | 7.000000e-06 |
| GCST006195_94 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 4.000000e-12 |
| GCST009281_5 | Microalbuminuria in type 1 diabetes | 3.000000e-09 |
| GCST010241_423 | Apolipoprotein A1 levels | 2.000000e-12 |
| GCST010242_336 | HDL cholesterol levels | 3.000000e-13 |
| GCST010298_2 | Metopic nonsyndromic craniosynostosis | 3.000000e-09 |
| GCST012202_6 | Distal/Left-sided colorectal cancer | 5.000000e-09 |
| GCST012205_6 | Distal colorectal cancer | 9.000000e-08 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004842 | eosinophil count |
| EFO:0007710 | cognitive decline measurement |
| EFO:0007679 | oppositional defiant disorder measurement |
| EFO:0007906 | synophrys measurement |
| EFO:0004763 | p-tau measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0005843 | cortisol measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0008511 | metopic craniosynostosis |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007021 | Hypospadias | C12.050.351.875.466; C12.100.500.494.400; C12.200.294.494.400; C12.200.706.516; C12.800.516; C16.131.939.516 |
| D013771 | Tetralogy of Fallot | C14.240.400.849; C14.280.400.849; C16.131.240.400.849 |
| C566906 | Cakut (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs79085477 | Toxicity | 3 | cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;methotrexate;pegaspargase;prednisone;thioguanine;vincristine | Acute lymphoblastic leukemia;Osteonecrosis |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs79085477 | BMP7 | 3 | 0.00 | 1 | cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;methotrexate;pegaspargase;prednisone;thioguanine;vincristine |
CTD chemical–gene interactions
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases reaction, increases expression, increases secretion, decreases expression | 6 |
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Resveratrol | affects cotreatment, decreases expression, increases chemical synthesis, increases reaction | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| aristolochic acid I | decreases expression, affects cotreatment, decreases reaction, increases expression, increases reaction (+2 more) | 2 |
| sodium arsenite | affects methylation, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Decitabine | decreases methylation, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases reaction, increases expression, decreases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | increases expression | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation, increases methylation | 1 |
| 5,5’-bis(8-(phenylamino)-1-naphthalenesulfonate) | affects binding, increases reaction | 1 |
| aristolochic acid II | decreases reaction, increases expression, increases reaction, affects cotreatment | 1 |
| pentanal | increases expression | 1 |
| octa-2,4,6-trienoic acid | decreases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
6 cell lines: 3 embryonic stem cell, 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0J5 | SEES3-1V human BMP7, clone1 | Embryonic stem cell | Male |
| CVCL_A0J6 | SEES3-1V human BMP7, clone2 | Embryonic stem cell | Male |
| CVCL_A0J7 | SEES3-1V human BMP7, clone3 | Embryonic stem cell | Male |
| CVCL_D9A5 | Ubigene HEK293 BMP7 KO | Transformed cell line | Female |
| CVCL_SF37 | HAP1 BMP7 (-) 1 | Cancer cell line | Male |
| CVCL_XM04 | HAP1 BMP7 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
180 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02848157 | PHASE4 | COMPLETED | Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery |
| NCT02861950 | PHASE4 | COMPLETED | Does Caudal Block Increase the Incidence of Urethrocutaneous Fistula Formation Following Hypospadias Repair in Infants? |
| NCT03902249 | PHASE4 | COMPLETED | Effect of Intravenous Dexamethasone With Pudendal Nerve Block on Postoperative Pain in Pediatric Hypospadias Repair |
| NCT05708989 | PHASE4 | WITHDRAWN | Caudal vs. Pudendal Block in Peds GU |
| NCT05837000 | PHASE4 | UNKNOWN | Dexmedetomidine, Ketamine and Magnesium Sulphate in Caudal Block for Hypospadias Repair |
| NCT05922605 | PHASE4 | UNKNOWN | Analgesic Effects of Caudal S-ketamine for Supplementation of Ropivacaine Caudal Analgesia in Children With Hypospadias |
| NCT07121764 | PHASE4 | COMPLETED | Postoperative Pain Relief in Children: Comparing Caudal Bupivacaine Alone Versus Bupivacaine With Dexmedetomidine for Infra-Umbilical Surgeries Under General Anesthesia |
| NCT07240649 | PHASE4 | NOT_YET_RECRUITING | Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications |
| NCT01971593 | PHASE4 | TERMINATED | The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease |
| NCT01370798 | PHASE3 | COMPLETED | Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications |
| NCT04423107 | PHASE3 | UNKNOWN | Assessment of Postop Hypospadias Pain |
| NCT04826484 | PHASE3 | TERMINATED | Opioid Reduction Initiative During Outpatient Pediatric Urologic Procedures Using Exparel |
| NCT07197203 | PHASE3 | NOT_YET_RECRUITING | Comparison of Caudal Block and Sacral Erector Spinae Plane Block With Dexmedetomidine in Pediatric Penile Hypospadias Repair |
| NCT03277430 | PHASE3 | UNKNOWN | Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study |
| NCT00564993 | PHASE3 | TERMINATED | Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot |
| NCT05253456 | PHASE2 | COMPLETED | Modified Second Layer Repair for Distal Penile Hypospadias |
| NCT00848393 | PHASE2 | COMPLETED | Measures to Lower the Stress Response in Pediatric Cardiac Surgery |
| NCT02010905 | PHASE2 | UNKNOWN | Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System |
| NCT04479371 | PHASE1 | WITHDRAWN | Liposomal Bupivacaine vs Standard Penile Block for Hypospadias Repair |
| NCT04115345 | PHASE1 | COMPLETED | A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). |
| NCT05694169 | PHASE1 | TERMINATED | A Study of Participants With Chronic Kidney Disease Previously Treated With REACT |
| NCT00573066 | PHASE1 | COMPLETED | Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery |
| NCT01915277 | PHASE1 | COMPLETED | A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics |
| NCT04713657 | PHASE1 | RECRUITING | Beta-blocker Administration for Cardiomyocyte Division |
| NCT02752308 | PHASE2/PHASE3 | COMPLETED | Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair |
| NCT04876976 | PHASE2/PHASE3 | COMPLETED | Isoamyl 2-Cyanoacrylate in the Urethro-cutaneous Fistula Repair |
| NCT05093166 | PHASE1/PHASE2 | TERMINATED | Clinical Trial to Assess the Safety and Efficacy of Investigational Product in Patients Due to Hypospadias Treatment Failure |
| NCT04196400 | EARLY_PHASE1 | UNKNOWN | The Role of Local Long Acting Corticosteroid Injection in Hypospadias Surgery. |
| NCT01762007 | Not specified | WITHDRAWN | The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group |
| NCT01875640 | Not specified | COMPLETED | Decision Support for Parents Receiving Information About Child’s Rare Disease |
| NCT02040389 | Not specified | COMPLETED | Visual Guidelines and Tutoring in Pediatric Urological Surgery |
| NCT02096159 | Not specified | ACTIVE_NOT_RECRUITING | Prophylactic Antibiotics or Placebo After Hypospadias Repair |
| NCT02103712 | Not specified | COMPLETED | Long Term Outcome of Hypospadias Repair |
| NCT02162810 | Not specified | TERMINATED | Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair |
| NCT02164682 | Not specified | COMPLETED | The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair |
| NCT02495090 | Not specified | COMPLETED | Hypospadias and Exome: Identification of New Genes for Familial Hypospadias |
| NCT02497963 | Not specified | UNKNOWN | Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) |
| NCT02512887 | Not specified | UNKNOWN | Caudal vs Local Anesthesia in Hypospadias |
| NCT02593903 | Not specified | COMPLETED | Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair |
| NCT02805491 | Not specified | COMPLETED | Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie |
Related Atlas pages
- Associated diseases: hypospadias, multiple congenital anomalies/dysmorphic syndrome, isolated craniosynostosis, Mayer-Rokitansky-Kuster-Hauser syndrome, congenital anomaly of kidney and urinary tract
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial septal defect 8, congenital anomaly of kidney and urinary tract, congenital heart defects, multiple types, 4, congenital total pulmonary venous return anomaly, hypospadias, isolated craniosynostosis, Mayer-Rokitansky-Kuster-Hauser syndrome, multiple congenital anomalies/dysmorphic syndrome, nephrotic syndrome, type 12, tetralogy of fallot, ventricular septal defect 1