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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
12
Cytoband
q24.31
Chromosome location (bp)
123973241 - 124316024
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
Predicted to enable filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to be located in cytoplasm. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022]...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 intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0031005[filamin binding] GO:0032432[actin filament bundle] GO:0048705[skeletal system morphogenesis] GO:0061181[regulation of chondrocyte development] GO:0061182[negative regulation of chondrocyte development] GO:0061572[actin filament bundle organization] GO:1900158[negative regulation of bone mineralization involved in bone maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0031005[filamin binding] GO:0032432[actin filament bundle] GO:0048705[skeletal system morphogenesis] GO:0061181[regulation of chondrocyte development] GO:0061182[negative regulation of chondrocyte development] GO:0061572[actin filament bundle organization] GO:1900158[negative regulation of bone mineralization involved in bone maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0031005[filamin binding] GO:0032432[actin filament bundle] GO:0048705[skeletal system morphogenesis] GO:0061181[regulation of chondrocyte development] GO:0061182[negative regulation of chondrocyte development] GO:0061572[actin filament bundle organization] GO:1900158[negative regulation of bone mineralization involved in bone maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0031005[filamin binding] GO:0032432[actin filament bundle] GO:0048705[skeletal system morphogenesis] GO:0061181[regulation of chondrocyte development] GO:0061182[negative regulation of chondrocyte development] GO:0061572[actin filament bundle organization] GO:1900158[negative regulation of bone mineralization involved in bone maturation]
The Human Protein Atlas project is funded
