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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
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
p23.3
Chromosome location (bp)
1823926 - 1958641
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 developmental myelination of peripheral nerves....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]...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.
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005813[centrosome] GO:0005829[cytosol] GO:0019894[kinesin binding] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0035023[regulation of Rho protein signal transduction] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051298[centrosome duplication] GO:0051496[positive regulation of stress fiber assembly] GO:0090307[mitotic spindle assembly] GO:0090630[activation of GTPase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005813[centrosome] GO:0005829[cytosol] GO:0022011[myelination in peripheral nervous system] GO:0035023[regulation of Rho protein signal transduction] GO:0090307[mitotic spindle assembly]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005813[centrosome] GO:0005829[cytosol] GO:0019894[kinesin binding] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0035023[regulation of Rho protein signal transduction] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051298[centrosome duplication] GO:0051496[positive regulation of stress fiber assembly] GO:0090307[mitotic spindle assembly] GO:0090630[activation of GTPase activity]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005813[centrosome] GO:0005829[cytosol] GO:0019894[kinesin binding] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0035023[regulation of Rho protein signal transduction] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051298[centrosome duplication] GO:0051496[positive regulation of stress fiber assembly] GO:0090307[mitotic spindle assembly] GO:0090630[activation of GTPase activity]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005813[centrosome] GO:0005829[cytosol] GO:0019894[kinesin binding] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0035023[regulation of Rho protein signal transduction] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051298[centrosome duplication] GO:0051496[positive regulation of stress fiber assembly] GO:0090307[mitotic spindle assembly] GO:0090630[activation of GTPase activity]