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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
X
Cytoband
p11.22
Chromosome location (bp)
53225828 - 53321350
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]...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.
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0030036[actin cytoskeleton organization] GO:0032012[regulation of ARF protein signal transduction] GO:0050804[modulation of chemical synaptic transmission] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane]
A0A1W2PPR2 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PPD3 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PRJ5 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0032012[regulation of ARF protein signal transduction]
A0A1W2PQP8 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PR18 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PPU7 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0032012[regulation of ARF protein signal transduction]
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005737[cytoplasm] GO:0030036[actin cytoskeleton organization] GO:0032012[regulation of ARF protein signal transduction] GO:0050804[modulation of chemical synaptic transmission] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane]
A0A1W2PR10 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PQS2 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PPE7 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1W2PR28 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0032012[regulation of ARF protein signal transduction]
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
Show all
Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes 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)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0030036[actin cytoskeleton organization] GO:0032012[regulation of ARF protein signal transduction] GO:0050804[modulation of chemical synaptic transmission] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane]
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
Show all
Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders 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:0005737[cytoplasm] GO:0030036[actin cytoskeleton organization] GO:0032012[regulation of ARF protein signal transduction] GO:0050804[modulation of chemical synaptic transmission] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane]
A0A6Q8PFR7 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0032012[regulation of ARF protein signal transduction]
A0A6Q8PG99 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0032012[regulation of ARF protein signal transduction]
The Human Protein Atlas project is funded
