Gene Gene information from NCBI Gene database.
Entrez ID 353500
Gene name Bone morphogenetic protein 8a
Gene symbol BMP8A
Synonyms (NCBI Gene)
OP-2Op2
Chromosome 1
Chromosome location 1p34.3
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.
477
miRTarBase ID miRNA Experiments Reference
MIRT021585 hsa-miR-142-3p Microarray 17612493
MIRT517421 hsa-miR-1910-3p PAR-CLIP 23446348
MIRT517420 hsa-miR-6511a-5p PAR-CLIP 23446348
MIRT517419 hsa-miR-25-3p PAR-CLIP 23446348
MIRT517418 hsa-miR-32-5p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0002024 Process Diet induced thermogenesis IDA 22579288
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620847 21650 ENSG00000183682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5Y6
Protein name Bone morphogenetic protein 8A (BMP-8A)
Protein function Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation o
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 29 251 TGF-beta propeptide Family
PF00019 TGF_beta 300 401 Transforming growth factor beta like domain Domain
Sequence
Sequence length 402
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
Thermogenesis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY 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
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 30485530
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30940143
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of thyroid Thyroid cancer BEFREE 31656161
★☆☆☆☆
Found in Text Mining only
Peripheral Arterial Disease Peripheral arterial disease Pubtator 27082954 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases Vascular Diseases BEFREE 27082954
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases Vascular Diseases GWASCAT_DG 27082954
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases Vascular Diseases CTD_human_DG 27082954
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma Rhabdomyosarcoma Pubtator 22419069 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid carcinoma Thyroid Carcinoma BEFREE 31656161
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasm Thyroid Neoplasm BEFREE 31656161
★☆☆☆☆
Found in Text Mining only