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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
2
Cytoband
q14.2
Chromosome location (bp)
120013077 - 120179119
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000904[cell morphogenesis involved in differentiation] GO:0001701[in utero embryonic development] GO:0001756[somitogenesis] GO:0001837[epithelial to mesenchymal transition] GO:0001839[neural plate morphogenesis] GO:0001917[photoreceptor inner segment] GO:0001954[positive regulation of cell-matrix adhesion] GO:0003382[epithelial cell morphogenesis] GO:0003383[apical constriction] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005912[adherens junction] GO:0005925[focal adhesion] GO:0006931[substrate-dependent cell migration, cell attachment to substrate] GO:0007398[ectoderm development] GO:0007492[endoderm development] GO:0007498[mesoderm development] GO:0007509[mesoderm migration involved in gastrulation] GO:0008092[cytoskeletal protein binding] GO:0009826[unidimensional cell growth] GO:0010608[post-transcriptional regulation of gene expression] GO:0010634[positive regulation of epithelial cell migration] GO:0016020[membrane] GO:0019904[protein domain specific binding] GO:0022408[negative regulation of cell-cell adhesion] GO:0030036[actin cytoskeleton organization] GO:0031032[actomyosin structure organization] GO:0031252[cell leading edge] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0032525[somite rostral/caudal axis specification] GO:0032587[ruffle membrane] GO:0048318[axial mesoderm development] GO:0048319[axial mesoderm morphogenesis] GO:0048339[paraxial mesoderm development] GO:0048617[embryonic foregut morphogenesis] GO:0051894[positive regulation of focal adhesion assembly] GO:0070161[anchoring junction] GO:0070201[regulation of establishment of protein localization] GO:0070986[left/right axis specification] GO:0071560[cellular response to transforming growth factor beta stimulus]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
