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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 FDA approved drug targets Human disease related genes 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
22
Cytoband
q12.3
Chromosome location (bp)
36560857 - 36703752
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Calcium channel, Ion channel, Voltage-gated channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Calcium transport, Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]...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 Accessory Factors Involved in Transport 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 FDA approved drug targets Small molecule drugs Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006612[protein targeting to membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007528[neuromuscular junction development] GO:0009986[cell surface] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016247[channel regulator activity] GO:0019226[transmission of nerve impulse] GO:0030666[endocytic vesicle membrane] GO:0032281[AMPA glutamate receptor complex] GO:0034765[regulation of ion transmembrane transport] GO:0035255[ionotropic glutamate receptor binding] GO:0036477[somatodendritic compartment] GO:0042391[regulation of membrane potential] GO:0043005[neuron projection] GO:0044300[cerebellar mossy fiber] GO:0045202[synapse] GO:0050877[nervous system process] GO:0051592[response to calcium ion] GO:0051899[membrane depolarization] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060081[membrane hyperpolarization] GO:0060082[eye blink reflex] GO:0070588[calcium ion transmembrane transport] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098686[hippocampal mossy fiber to CA3 synapse] GO:0098839[postsynaptic density membrane] GO:0098943[neurotransmitter receptor transport, postsynaptic endosome to lysosome] GO:0098970[postsynaptic neurotransmitter receptor diffusion trapping] GO:0098978[glutamatergic synapse] GO:0099072[regulation of postsynaptic membrane neurotransmitter receptor levels] GO:0099590[neurotransmitter receptor internalization] GO:0099645[neurotransmitter receptor localization to postsynaptic specialization membrane] GO:1904510[positive regulation of protein localization to basolateral plasma membrane] GO:2000311[regulation of AMPA receptor activity] GO:2000969[positive regulation of AMPA receptor activity]