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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
9
Cytoband
p24.3
Chromosome location (bp)
214854 - 465259
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP 1,2. During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane 3. Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing 4....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 member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]...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.
A2A369 [Direct mapping] Dedicator of cytokinesis protein 8
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0007264[small GTPase mediated signal transduction]
Q8NF50 [Direct mapping] Dedicator of cytokinesis protein 8
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders 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:0001771[immunological synapse formation] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0007264[small GTPase mediated signal transduction] GO:0016020[membrane] GO:0031252[cell leading edge] GO:0031256[leading edge membrane] GO:0031258[lamellipodium membrane] GO:0036336[dendritic cell migration] GO:0042995[cell projection] GO:0043547[positive regulation of GTPase activity] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0061485[memory T cell proliferation] GO:0070233[negative regulation of T cell apoptotic process] GO:1903905[positive regulation of establishment of T cell polarity] GO:1990869[cellular response to chemokine] GO:2000406[positive regulation of T cell migration]
Q8NF50 [Direct mapping] Dedicator of cytokinesis protein 8
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q8NF50 [Direct mapping] Dedicator of cytokinesis protein 8
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
C9J7A3 [Direct mapping] Dedicator of cytokinesis protein 8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0007264[small GTPase mediated signal transduction]
A0A804HK14 [Direct mapping] Dedicator of cytokinesis protein 8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0007264[small GTPase mediated signal transduction]
The Human Protein Atlas project is funded
