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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
8
Cytoband
q22.3
Chromosome location (bp)
103500610 - 104254430
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes 1....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 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 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.
Q9UQ26 [Direct mapping] Regulating synaptic membrane exocytosis protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006886[intracellular protein transport] GO:0006887[exocytosis] GO:0007188[adenylate cyclase-modulating G protein-coupled receptor signaling pathway] GO:0016020[membrane] GO:0017156[calcium-ion regulated exocytosis] GO:0017157[regulation of exocytosis] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0042391[regulation of membrane potential] GO:0042734[presynaptic membrane] GO:0042995[cell projection] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0046872[metal ion binding] GO:0048167[regulation of synaptic plasticity] GO:0048786[presynaptic active zone] GO:0048788[cytoskeleton of presynaptic active zone] GO:0048791[calcium ion-regulated exocytosis of neurotransmitter] GO:0050806[positive regulation of synaptic transmission] GO:0061669[spontaneous neurotransmitter secretion] GO:0070062[extracellular exosome] GO:0097151[positive regulation of inhibitory postsynaptic potential] GO:1903861[positive regulation of dendrite extension] GO:2000463[positive regulation of excitatory postsynaptic potential]
Q9UQ26 [Direct mapping] Regulating synaptic membrane exocytosis protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006886[intracellular protein transport] GO:0006887[exocytosis] GO:0007188[adenylate cyclase-modulating G protein-coupled receptor signaling pathway] GO:0016020[membrane] GO:0017156[calcium-ion regulated exocytosis] GO:0017157[regulation of exocytosis] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0042391[regulation of membrane potential] GO:0042734[presynaptic membrane] GO:0042995[cell projection] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0046872[metal ion binding] GO:0048167[regulation of synaptic plasticity] GO:0048786[presynaptic active zone] GO:0048788[cytoskeleton of presynaptic active zone] GO:0048791[calcium ion-regulated exocytosis of neurotransmitter] GO:0050806[positive regulation of synaptic transmission] GO:0061669[spontaneous neurotransmitter secretion] GO:0070062[extracellular exosome] GO:0097151[positive regulation of inhibitory postsynaptic potential] GO:1903861[positive regulation of dendrite extension] GO:2000463[positive regulation of excitatory postsynaptic potential]
Q9UQ26 [Direct mapping] Regulating synaptic membrane exocytosis protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006886[intracellular protein transport] GO:0006887[exocytosis] GO:0007188[adenylate cyclase-modulating G protein-coupled receptor signaling pathway] GO:0016020[membrane] GO:0017156[calcium-ion regulated exocytosis] GO:0017157[regulation of exocytosis] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0042391[regulation of membrane potential] GO:0042734[presynaptic membrane] GO:0042995[cell projection] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0046872[metal ion binding] GO:0048167[regulation of synaptic plasticity] GO:0048786[presynaptic active zone] GO:0048788[cytoskeleton of presynaptic active zone] GO:0048791[calcium ion-regulated exocytosis of neurotransmitter] GO:0050806[positive regulation of synaptic transmission] GO:0061669[spontaneous neurotransmitter secretion] GO:0070062[extracellular exosome] GO:0097151[positive regulation of inhibitory postsynaptic potential] GO:1903861[positive regulation of dendrite extension] GO:2000463[positive regulation of excitatory postsynaptic potential]
The Human Protein Atlas project is funded
