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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
p24.3
Chromosome location (bp)
7726099 - 7881728
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation 1. Also plays an important role in the regulation of HAMP/hepcidin expression and iron metabolism by acting as a ligand for hemojuvelin/HJV 2. Also acts to promote expression of HAMP, potentially via the interaction with its receptor BMPR1A/ALK3 3,4. Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2B 5. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target. Can also signal through non-canonical pathway such as TAZ-Hippo signaling cascade to modulate VEGF signaling by regulating VEGFR2 expression 6....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine, Developmental protein, Growth factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Chondrogenesis, Differentiation, Osteogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P22004 [Direct mapping] Bone morphogenetic protein 6
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Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001501[skeletal system development] GO:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0001654[eye development] GO:0001822[kidney development] GO:0001938[positive regulation of endothelial cell proliferation] GO:0001958[endochondral ossification] GO:0003323[type B pancreatic cell development] GO:0005125[cytokine activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0006879[cellular iron ion homeostasis] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0010039[response to iron ion] GO:0010628[positive regulation of gene expression] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0014823[response to activity] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030501[positive regulation of bone mineralization] GO:0030509[BMP signaling pathway] GO:0030539[male genitalia development] GO:0031666[positive regulation of lipopolysaccharide-mediated signaling pathway] GO:0031982[vesicle] GO:0032026[response to magnesium ion] GO:0032332[positive regulation of chondrocyte differentiation] GO:0032349[positive regulation of aldosterone biosynthetic process] GO:0032526[response to retinoic acid] GO:0043117[positive regulation of vascular permeability] GO:0045603[positive regulation of endothelial cell differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0050679[positive regulation of epithelial cell proliferation] GO:0050714[positive regulation of protein secretion] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051216[cartilage development] GO:0051384[response to glucocorticoid] GO:0060348[bone development] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060395[SMAD protein signal transduction] GO:0060586[multicellular organismal iron ion homeostasis] GO:0070700[BMP receptor binding] GO:0071260[cellular response to mechanical stimulus] GO:0071281[cellular response to iron ion] GO:0071773[cellular response to BMP stimulus] GO:1903392[negative regulation of adherens junction organization] GO:2000048[negative regulation of cell-cell adhesion mediated by cadherin] GO:2000860[positive regulation of aldosterone secretion]
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