Gene Gene information from NCBI Gene database.
Entrez ID 655
Gene name Bone morphogenetic protein 7
Gene symbol BMP7
Synonyms (NCBI Gene)
OP-1
Chromosome 20
Chromosome location 20q13.31
Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1555815731 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
465
miRTarBase ID miRNA Experiments Reference
MIRT002000 hsa-miR-22-3p Luciferase reporter assay 19011694
MIRT002000 hsa-miR-22-3p qRT-PCRLuciferase reporter assayWestern blot 19011694
MIRT005882 hsa-miR-342-3p Luciferase reporter assayNorthern blotqRT-PCR 21172025
MIRT007204 hsa-miR-34a-5p Western blot 23226240
MIRT023527 hsa-miR-1-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HDAC2 Repression 17452977
LDB1 Unknown 17452977
LMO4 Activation 17452977
LMO4 Repression 17452977
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
136
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development TAS 2357959
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation IDA 18436533, 34948289
GO:0001649 Process Osteoblast differentiation IDA 18436533
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
112267 1074 ENSG00000101144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18075
Protein name Bone morphogenetic protein 7 (BMP-7) (Osteogenic protein 1) (OP-1) (Eptotermin alfa)
Protein function Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, hematopoiesis, neurogenesis and skeletal morphogenesis (PubMed:31208997). Initiates the canonical BMP signaling cascade
PDB 1BMP , 1LX5 , 1LXI , 1M4U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 34 280 TGF-beta propeptide Family
PF00019 TGF_beta 329 430 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the kidney and bladder. Lower levels seen in the brain.
Sequence
Sequence length 431
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Axon guidance
Hippo signaling pathway
  Molecules associated with elastic fibres
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital heart defects, multiple types, 4 Pathogenic rs1476787716 RCV002279853
Ventricular septal defect 1 Pathogenic rs2146036001 RCV002279852
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial septal defect 8 Benign rs183792918 RCV002279855
BMP7-related disorder Likely benign; Uncertain significance; Benign rs111656769, rs1463340387, rs994051225, rs202227032, rs145527493, rs139592459, rs766457017, rs151141435, rs61733438 RCV004747197
RCV003420707
RCV003399907
RCV003402643
RCV003392863
RCV003909005
RCV003939794
RCV003969511
RCV003925927
Congenital anomaly of kidney and urinary tract Uncertain significance rs540533068, rs112344257, rs755895161 RCV000416586
RCV000416579
RCV000416599
Congenital total pulmonary venous return anomaly Benign rs61733438 RCV002279734
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 18496506, 21080950
Adenocarcinoma Associate 24299561
Adenocarcinoma of Lung Associate 34036102
Allanson Pantzar McLeod syndrome Associate 22140272, 30027931
Alzheimer Disease Associate 34556089
Arthritis Psoriatic Associate 33250156
Arthritis Rheumatoid Associate 26215036
Asthma Associate 35731115
Atrial Fibrillation Associate 34737791
Breast Neoplasms Associate 15861517, 17895257, 21113658, 21935711, 22118688, 26431436, 27696331, 28407692, 34993493