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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).
Disease related genes Human disease related genes
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
20
Cytoband
p12.3
Chromosome location (bp)
6074845 - 6123214
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 cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression....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 a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 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 intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Skin diseases Skin and soft tissue 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:0001954[positive regulation of cell-matrix adhesion] GO:0005178[integrin binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0007155[cell adhesion] GO:0007160[cell-matrix adhesion] GO:0007229[integrin-mediated signaling pathway] GO:0010629[negative regulation of gene expression] GO:0016020[membrane] GO:0030054[cell junction] GO:0030055[cell-substrate junction] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0032587[ruffle membrane] GO:0033625[positive regulation of integrin activation] GO:0033630[positive regulation of cell adhesion mediated by integrin] GO:0042308[negative regulation of protein import into nucleus] GO:0042995[cell projection] GO:0043616[keratinocyte proliferation] GO:0051015[actin filament binding] GO:0051546[keratinocyte migration] GO:0051886[negative regulation of timing of anagen] GO:0070161[anchoring junction] GO:0071636[positive regulation of transforming growth factor beta production] GO:0071711[basement membrane organization] GO:0071944[cell periphery] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090162[establishment of epithelial cell polarity] GO:1903691[positive regulation of wound healing, spreading of epidermal cells] GO:2000647[negative regulation of stem cell proliferation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
