Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
651
Gene name Gene Name - the full gene name approved by the HGNC.
Bone morphogenetic protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BMP3
Synonyms (NCBI Gene) Gene synonyms aliases
BMP-3A
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.21
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT053680 hsa-miR-181a-5p Microarray 22942087
MIRT480764 hsa-miR-508-5p HITS-CLIP 23824327
MIRT480763 hsa-miR-194-3p HITS-CLIP 23824327
MIRT480762 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT480761 hsa-miR-6849-3p HITS-CLIP 23824327
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 3201241
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0005102 Function Signaling receptor binding TAS 3201241
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
112263 1070 ENSG00000152785
Protein
UniProt ID P12645
Protein name Bone morphogenetic protein 3 (BMP-3) (Bone morphogenetic protein 3A) (BMP-3A) (Osteogenin)
Protein function Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density. Antagonizes the ability of certain osteogenic BMPs to
PDB 2QCQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 369 471 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult and fetal cartilage. {ECO:0000269|PubMed:15475196}.
Sequence
MAGASRLLFLWLGCFCVSLAQGERPKPPFPELRKAVPGDRTAGGGPDSELQPQDKVSEHM
LRLYDRYSTVQAARTPGSLEGGSQPWRPRLLREGNTVRSFRAAAAETLERKGLYIFNLTS
LTKSENILSATLYFCIGELGNISLSCPVSGGCSHHAQRKHIQIDLSAWTLKFSRNQSQLL
GHLSVDMAKSHRDIMSWLSKDITQLLRKAKENEEFLIGFNITSKGRQLPKRRLPFPEPYI
LVYANDAAISEPESVVSSLQGHRNFPTGTVPKWDSHIRAALSIERRKKRSTGVLLPLQNN
ELPGAEYQYKKDEVWEERKPYKTLQAQAPEKSKNKKKQRKGPHRKSQTLQFDEQTLKKAR
RKQWIEPRNCARRYLKVDFADIGWSEWIISPKSFDAYYCSGACQFPMPKSLKPSNHATIQ
SIVRAVGVVPGIPEPCCVPEKMSSLSILFFDENKNVVLKVYPNMTVESCAC
R
Sequence length 472
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytokine-cytokine receptor interaction  
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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
Alopecia Areata Alopecia areata N/A N/A GWAS
Myopia Myopia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Axial osteomalacia Associate 26689798
Carcinogenesis Associate 20027224, 20238409
Colorectal Neoplasms Associate 23347191, 24441198, 24645800, 24993691, 27114416, 28700744, 29775793, 34621892, 35963995, 37338022, 37438612
Cystic Fibrosis Associate 31306149
Endometrial Neoplasms Associate 24077349
Giant Cell Tumors Associate 19528484
Glaucoma Associate 31816047
Inflammatory Bowel Diseases Associate 23347191
Lymphoma Non Hodgkin Associate 29775793
Neointima Associate 2004778