Gene Gene information from NCBI Gene database.
Entrez ID 653
Gene name Bone morphogenetic protein 5
Gene symbol BMP5
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6p12.1
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.
134
miRTarBase ID miRNA Experiments Reference
MIRT610487 hsa-miR-8485 HITS-CLIP 23313552
MIRT610486 hsa-miR-5003-5p HITS-CLIP 23313552
MIRT610487 hsa-miR-8485 HITS-CLIP 23313552
MIRT610486 hsa-miR-5003-5p HITS-CLIP 23313552
MIRT610487 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development NAS 2263636
GO:0001503 Process Ossification IEA
GO:0003272 Process Endocardial cushion formation IEA
GO:0003272 Process Endocardial cushion formation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
112265 1072 ENSG00000112175
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22003
Protein name Bone morphogenetic protein 5 (BMP-5)
Protein function Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis (PubMed:11580864, PubMed:29321139). Initiates the canonical BMP signaling cascade by ass
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 31 304 TGF-beta propeptide Family
PF00019 TGF_beta 352 453 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the lung and liver.
Sequence
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
BMP5-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER 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 large intestine Colorectal Cancer GWASCAT_DG 30510241, 31089142
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 19584291
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16542506 Inhibit
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 24384427
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 32968094 Stimulate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 31094703
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 17900349 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23054396
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35054776 Associate
★☆☆☆☆
Found in Text Mining only