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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
5
Cytoband
q23.3
Chromosome location (bp)
128257909 - 128659185
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Fibrillin-2]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]...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.
THUMBUP predicted membrane proteins TMHMM predicted membrane proteins 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 Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations 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:0001527[microfibril] GO:0005201[extracellular matrix structural constituent] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0009653[anatomical structure morphogenesis] GO:0030023[extracellular matrix constituent conferring elasticity] GO:0030326[embryonic limb morphogenesis] GO:0030501[positive regulation of bone mineralization] GO:0031012[extracellular matrix] GO:0035108[limb morphogenesis] GO:0035583[sequestering of TGFbeta in extracellular matrix] GO:0043010[camera-type eye development] GO:0045669[positive regulation of osteoblast differentiation] GO:0048048[embryonic eye morphogenesis] GO:0060346[bone trabecula formation] GO:0062023[collagen-containing extracellular matrix]
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins 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 Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001527[microfibril] GO:0005201[extracellular matrix structural constituent] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0009653[anatomical structure morphogenesis] GO:0030023[extracellular matrix constituent conferring elasticity] GO:0030501[positive regulation of bone mineralization] GO:0031012[extracellular matrix] GO:0035583[sequestering of TGFbeta in extracellular matrix] GO:0043010[camera-type eye development] GO:0045669[positive regulation of osteoblast differentiation] GO:0048048[embryonic eye morphogenesis] GO:0060346[bone trabecula formation] GO:0062023[collagen-containing extracellular matrix]
The Human Protein Atlas project is funded
