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 TAS 2357959
GO:0001503 Process Ossification IEA
GO:0001656 Process Metanephros development IEP 18437684
GO:0001657 Process Ureteric bud development ISS
GO:0001707 Process Mesoderm formation IEA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital anomalies of kidney and urinary tract Cakut rs267606865, rs121908436, rs281875326, rs879255515, rs75462234, rs869320679, rs760905589, rs797045022, rs869320624, rs745597204, rs1114167358, rs1555879360, rs1577330805, rs1008555507 7590254
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
16367923
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 17003840, 20506283, 24429398
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881, 19283074
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 21063030 ClinVar
Mental depression Unipolar Depression, Major Depressive Disorder 21896235 ClinVar
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome GenCC
Hypospadias hypospadias GenCC
Associations from Text Mining
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