BMP6
Bone morphogenetic protein 6
Also known as: BMP6_HUMAN, VGR, VGR1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22004
- Gene
- BMP6
- Ensembl
- ENSG00000153162
- Chromosome
- 6
- Canonical length
- 513 aa
- Protein class
- Predicted secreted proteins
- Subcellular location
- Mitochondria
- Secretome location
- Secreted to blood
OverviewNCBI 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 gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
513 residues, UniProt reviewed canonical sequence.
>P22004|BMP6
1 MPGLGRRAQW LCWWWGLLCS CCGPPPLRPP LPAAAAAAAG GQLLGDGGSP GRTEQPPPSP
61 QSSSGFLYRR LKTQEKREMQ KEILSVLGLP HRPRPLHGLQ QPQPPALRQQ EEQQQQQQLP
121 RGEPPPGRLK SAPLFMLDLY NALSADNDED GASEGERQQS WPHEAASSSQ RRQPPPGAAH
181 PLNRKSLLAP GSGSGGASPL TSAQDSAFLN DADMVMSFVN LVEYDKEFSP RQRHHKEFKF
241 NLSQIPEGEV VTAAEFRIYK DCVMGSFKNQ TFLISIYQVL QEHQHRDSDL FLLDTRVVWA
301 SEEGWLEFDI TATSNLWVVT PQHNMGLQLS VVTRDGVHVH PRAAGLVGRD GPYDKQPFMV
361 AFFKVSEVHV RTTRSASSRR RQQSRNRSTQ SQDVARVSSA SDYNSSELKT ACRKHELYVS
421 FQDLGWQDWI IAPKGYAANY CDGECSFPLN AHMNATNHAI VQTLVHLMNP EYVPKPCCAP
481 TKLNAISVLY FDDNSNVILK KYRNMVVRAC GCHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BMP6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- ovary: 19 nTPM
- placenta: 17 nTPM
- adipose tissue: 14 nTPM
- kidney: 12 nTPM
- breast: 11 nTPM
- choroid plexus: 7.8 nTPM
Single-cell type
- pituitary stem cells: 364 nCPM
- plasma cells: 349 nCPM
- platelets: 344 nCPM
- oocytes: 170 nCPM
- vascular endothelial cells: 164 nCPM
- neutrophils: 156 nCPM
Immune cell
- basophil: 1.1 nTPM
- neutrophil: 0.6 nTPM
- total PBMC: 0.5 nTPM
- myeloid DC: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- choroid plexus: 13 nTPM
- cerebral cortex: 9.9 nTPM
- basal ganglia: 8.7 nTPM
- thalamus: 8.7 nTPM
- amygdala: 7.1 nTPM
- medulla oblongata: 6.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BMP6.
Disease | AllUniProt
Conditions BMP6 is implicated in, by any mechanism.
- Iron overload (IO) MIM:620121
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 134 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.76
- gnomAD missense Z
- -1.03
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- BMP signaling pathway
- bone development
- cartilage development
- cellular response to BMP stimulus
- cellular response to iron ion
- cellular response to mechanical stimulus
- endochondral ossification
- eye development
- heart development
- immune response
- inflammatory response
- intracellular iron ion homeostasis
- kidney development
- male genitalia development
- multicellular organismal-level iron ion homeostasis
- negative regulation of adherens junction organization
- negative regulation of cell-cell adhesion mediated by cadherin
- negative regulation of transcription by RNA polymerase II
- neuron differentiation
- osteoblast differentiation
- positive regulation of aldosterone biosynthetic process
- positive regulation of aldosterone secretion
- positive regulation of bone mineralization
- positive regulation of cell population proliferation
- positive regulation of chondrocyte differentiation
- positive regulation of endothelial cell differentiation
- positive regulation of endothelial cell proliferation
- positive regulation of epithelial cell proliferation
- positive regulation of gene expression
- positive regulation of intracellular signal transduction
- positive regulation of lipopolysaccharide-mediated signaling pathway
- positive regulation of neuron differentiation
- positive regulation of osteoblast differentiation
- positive regulation of protein secretion
- positive regulation of SMAD protein signal transduction
- positive regulation of transcription by RNA polymerase II
- positive regulation of vascular permeability
- response to activity
- response to glucocorticoid
- response to magnesium ion
- response to retinoic acid
- skeletal system development
- type B pancreatic cell development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BMP6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BMP6 as an antibody target. Whether an autoantibody or antibody against BMP6 could matter depends on whether native BMP6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BMP6 is annotated as secreted, so native BMP6 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label BMP6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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