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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.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
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
12
Cytoband
q21.33
Chromosome location (bp)
91140484 - 91183217
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May affect the rate of fibrils formation....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005539[glycosaminoglycan binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0019800[peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050840[extracellular matrix binding] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0009887[animal organ morphogenesis] GO:0010508[positive regulation of autophagy] GO:0010596[negative regulation of endothelial cell migration] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016239[positive regulation of macroautophagy] GO:0016525[negative regulation of angiogenesis] GO:0030021[extracellular matrix structural constituent conferring compression resistance] GO:0043202[lysosomal lumen] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051901[positive regulation of mitochondrial depolarization] GO:0062023[collagen-containing extracellular matrix] GO:0090141[positive regulation of mitochondrial fission] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway]
The Human Protein Atlas project is funded
