Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
655
Gene name Gene Name - the full gene name approved by the HGNC.
Bone morphogenetic protein 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BMP7
Synonyms (NCBI Gene) Gene synonyms aliases
OP-1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555815731 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002000 hsa-miR-22-3p Luciferase reporter assay 19011694
MIRT002000 hsa-miR-22-3p qRT-PCR, Luciferase reporter assay, Western blot 19011694
MIRT005882 hsa-miR-342-3p Luciferase reporter assay, Northern blot, qRT-PCR 21172025
MIRT007204 hsa-miR-34a-5p Western blot 23226240
MIRT023527 hsa-miR-1-3p Microarray 18668037
Transcription factors
Transcription factor Regulation Reference
HDAC2 Repression 17452977
LDB1 Unknown 17452977
LMO4 Activation 17452977
LMO4 Repression 17452977
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
112267 1074 ENSG00000101144
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer, Distal/Left-sided colorectal cancer, Distal colorectal cancer N/A N/A GWAS
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract N/A N/A ClinVar
Dementia Dementia N/A N/A GWAS
Hypospadias hypospadias N/A N/A GenCC
Associations from Text Mining Disease 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