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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 Plasma proteins 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
1
Cytoband
q32.1
Chromosome location (bp)
205042937 - 205078289
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion....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 contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]...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.
Transporters Accessory Factors Involved in Transport Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy 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:0000226[microtubule cytoskeleton organization] GO:0001764[neuron migration] GO:0001973[G protein-coupled adenosine receptor signaling pathway] GO:0002021[response to dietary excess] GO:0002023[reduction of food intake in response to dietary excess] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0007155[cell adhesion] GO:0007156[homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007399[nervous system development] GO:0007411[axon guidance] GO:0007413[axonal fasciculation] GO:0007612[learning] GO:0007628[adult walking behavior] GO:0009986[cell surface] GO:0010769[regulation of cell morphogenesis involved in differentiation] GO:0010954[positive regulation of protein processing] GO:0016020[membrane] GO:0016485[protein processing] GO:0021853[cerebral cortex GABAergic interneuron migration] GO:0022010[central nervous system myelination] GO:0030182[neuron differentiation] GO:0030246[carbohydrate binding] GO:0030424[axon] GO:0031133[regulation of axon diameter] GO:0031175[neuron projection development] GO:0031623[receptor internalization] GO:0033268[node of Ranvier] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043194[axon initial segment] GO:0043209[myelin sheath] GO:0043621[protein self-association] GO:0044224[juxtaparanode region of axon] GO:0045163[clustering of voltage-gated potassium channels] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0045444[fat cell differentiation] GO:0045665[negative regulation of neuron differentiation] GO:0048168[regulation of neuronal synaptic plasticity] GO:0048710[regulation of astrocyte differentiation] GO:0051649[establishment of localization in cell] GO:0060168[positive regulation of adenosine receptor signaling pathway] GO:0070593[dendrite self-avoidance] GO:0071205[protein localization to juxtaparanode region of axon] GO:0071206[establishment of protein localization to juxtaparanode region of axon] GO:0097090[presynaptic membrane organization] GO:0098632[cell-cell adhesion mediator activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Transporters Accessory Factors Involved in Transport Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
