BMP5 Gene Summary [Human]

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 gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
BMP5
Official Name
bone morphogenetic protein 5 [Source:HGNC Symbol;Acc:HGNC:1072]
Ensembl ID
ENSG00000112175
Bio databases IDs NCBI: 653 Ensembl: ENSG00000112175
Aliases bone morphogenetic protein 5
Synonyms bone morphogenetic protein 5, se
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BMP5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • TGF_beta_SF
  • Transforming growth factor beta like domain
  • protein binding
  • receptor binding
  • growth factor
  • TGF-beta propeptide

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • proteinuria
  • prostate cancer
  • colorectal cancer
  • rheumatoid arthritis
  • adrenal cortex carcinoma
  • adrenocortical carcinoma
  • inguinal hernia
  • colorectal adenoma
  • colorectal adenoma formation
  • osteoarthritis
regulated by
  • beta-estradiol
  • dexamethasone
  • Immunoglobulin
  • ESR2
  • RBM5
  • tamoxifen
  • TGFBR2
  • decitabine
  • RC-3940-II
  • EIF6
regulates
role in cell
  • phosphorylation in
  • expression in
  • proliferation
  • apoptosis
  • production in
  • differentiation
  • invasion
  • cell viability
  • development
  • steroidogenesis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BMP5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of cortisol biosynthetic process
  • negative regulation of cell proliferation
  • positive regulation of cell proliferation
  • endocardial cushion formation
  • positive regulation of transcription from RNA polymerase II promoter
  • cardiac muscle tissue development
  • negative regulation of insulin-like growth factor receptor signaling pathway
  • skeletal system development
  • negative regulation of epithelial to mesenchymal transition
  • ossification
  • hindbrain development
  • BMP signaling pathway
  • positive regulation of SMAD protein import into nucleus
  • negative regulation of mononuclear cell migration
  • negative regulation of aldosterone biosynthetic process
  • positive regulation of epithelial cell proliferation
  • negative regulation of steroid biosynthetic process
  • heart trabecula morphogenesis
  • pattern specification process
  • neural fold elevation formation
  • cardiac septum morphogenesis
  • pharyngeal system development
  • positive regulation of dendrite development
  • pericardium morphogenesis
  • anterior head development
  • chorio-allantoic fusion
  • type B pancreatic cell development
  • male genitalia development
  • ear development
  • cartilage development

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • vesicle

Molecular Function

What the gene product does at the molecular level
  • growth factor activity
  • protein binding
  • cytokine activity
  • BMP receptor binding

Gene-Specific Assays for Results You Can Trust

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