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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).
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
2
Cytoband
p23.3
Chromosome location (bp)
27078615 - 27086403
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell adhesion
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]...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.
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 Plasma proteins Human disease related genes Nervous system diseases Neurodegenerative diseases 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:0003180[aortic valve morphogenesis] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005615[extracellular space] GO:0007155[cell adhesion] GO:0007160[cell-matrix adhesion] GO:0008217[regulation of blood pressure] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010811[positive regulation of cell-substrate adhesion] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0030023[extracellular matrix constituent conferring elasticity] GO:0030194[positive regulation of blood coagulation] GO:0030198[extracellular matrix organization] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031012[extracellular matrix] GO:0032966[negative regulation of collagen biosynthetic process] GO:0033627[cell adhesion mediated by integrin] GO:0034668[integrin alpha4-beta1 complex] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0043065[positive regulation of apoptotic process] GO:0045766[positive regulation of angiogenesis] GO:0048251[elastic fiber assembly] GO:0048583[regulation of response to stimulus] GO:0050866[negative regulation of cell activation] GO:0060090[molecular adaptor activity] GO:0060394[negative regulation of pathway-restricted SMAD protein phosphorylation] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071944[cell periphery] GO:0098640[integrin binding involved in cell-matrix adhesion] GO:1900426[positive regulation of defense response to bacterium] GO:1901203[positive regulation of extracellular matrix assembly] GO:1901731[positive regulation of platelet aggregation] GO:1904027[negative regulation of collagen fibril organization] GO:1905522[negative regulation of macrophage migration] GO:1990971[EMILIN complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
