Gene Gene information from NCBI Gene database.
Entrez ID 651
Gene name Bone morphogenetic protein 3
Gene symbol BMP3
Synonyms (NCBI Gene)
BMP-3A
Chromosome 4
Chromosome location 4q21.21
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
miRNA miRNA information provided by mirtarbase database.
461
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
112263 1070 ENSG00000152785
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
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 of prostate Prostate adenocarcinoma BEFREE 7880444, 8146069
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20027224, 20238409 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31665064
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18086775, 18311777, 24441198, 26401070, 29775793, 31097151, 31665064
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms BEFREE 18311777
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 18311777
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 23347191, 24441198, 24645800, 24993691, 27114416, 28700744, 29775793, 34621892, 35963995, 37338022, 37438612 Associate
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 31306149 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 24077349 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma Pubtator 31816047 Associate
★☆☆☆☆
Found in Text Mining only