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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital heart defects, multiple types, 4 Pathogenic rs1476787716 RCV002279853
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular septal defect 1 Pathogenic rs2146036001 RCV002279852
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial septal defect 8 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BMP7-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE RESORPTION CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15994952
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24299561
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26337467
★☆☆☆☆
Found in Text Mining only
Alveolitis, Fibrosing Alveolitis CTD_human_DG 17975199
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34556089 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28303752
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 27068510
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26824441, 30107156
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 33250156 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26215036 Associate
★☆☆☆☆
Found in Text Mining only