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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 Potential drug targets Transporters
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
q13.2
Chromosome location (bp)
69492292 - 69558104
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]...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.
Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Nervous system diseases Other nervous and sensory system 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:0001933[negative regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005765[lysosomal membrane] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005923[bicellular tight junction] GO:0010592[positive regulation of lamellipodium assembly] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010827[regulation of glucose transmembrane transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016324[apical plasma membrane] GO:0019904[protein domain specific binding] GO:0030054[cell junction] GO:0031116[positive regulation of microtubule polymerization] GO:0031252[cell leading edge] GO:0031410[cytoplasmic vesicle] GO:0032991[protein-containing complex] GO:0035633[maintenance of blood-brain barrier] GO:0045216[cell-cell junction organization] GO:0046326[positive regulation of glucose import] GO:0065003[protein-containing complex assembly] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0070830[bicellular tight junction assembly] GO:0090303[positive regulation of wound healing] GO:0110165[cellular anatomical entity] GO:1902463[protein localization to cell leading edge] GO:1905605[positive regulation of blood-brain barrier permeability]
Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Nervous system diseases Other nervous and sensory system 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:0001933[negative regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005765[lysosomal membrane] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005923[bicellular tight junction] GO:0010592[positive regulation of lamellipodium assembly] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010827[regulation of glucose transmembrane transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016324[apical plasma membrane] GO:0016327[apicolateral plasma membrane] GO:0019904[protein domain specific binding] GO:0030054[cell junction] GO:0030139[endocytic vesicle] GO:0031116[positive regulation of microtubule polymerization] GO:0031252[cell leading edge] GO:0031410[cytoplasmic vesicle] GO:0032991[protein-containing complex] GO:0035633[maintenance of blood-brain barrier] GO:0045216[cell-cell junction organization] GO:0046326[positive regulation of glucose import] GO:0065003[protein-containing complex assembly] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0070830[bicellular tight junction assembly] GO:0090303[positive regulation of wound healing] GO:0110165[cellular anatomical entity] GO:0120193[tight junction organization] GO:1902463[protein localization to cell leading edge] GO:1905605[positive regulation of blood-brain barrier permeability]
Transporters MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001933[negative regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005765[lysosomal membrane] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005923[bicellular tight junction] GO:0010592[positive regulation of lamellipodium assembly] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010827[regulation of glucose transmembrane transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016324[apical plasma membrane] GO:0019904[protein domain specific binding] GO:0030054[cell junction] GO:0031116[positive regulation of microtubule polymerization] GO:0031252[cell leading edge] GO:0031410[cytoplasmic vesicle] GO:0032991[protein-containing complex] GO:0035633[maintenance of blood-brain barrier] GO:0045216[cell-cell junction organization] GO:0046326[positive regulation of glucose import] GO:0065003[protein-containing complex assembly] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0070830[bicellular tight junction assembly] GO:0090303[positive regulation of wound healing] GO:0110165[cellular anatomical entity] GO:1902463[protein localization to cell leading edge] GO:1905605[positive regulation of blood-brain barrier permeability]
The Human Protein Atlas project is funded
