Homo sapiens Gene: IQSEC2
Summary
InnateDB Gene IDBG-69706.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IQSEC2
Gene Name IQ motif and Sec7 domain 2
Synonyms BRAG1; MRX1;
Species Homo sapiens
Ensembl Gene ENSG00000124313
Encoded Proteins
IQ motif and Sec7 domain 2
IQ motif and Sec7 domain 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome X:53232876-53321324
Strand Reverse strand
Band p11.22
Transcripts
ENST00000375365 ENSP00000364514
ENST00000396435 ENSP00000379712
ENST00000485377
ENST00000462054
ENST00000498281
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005086 ARF guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
Biological Process
GO:0030036 actin cytoskeleton organization
GO:0032012 regulation of ARF protein signal transduction
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005634 nucleus
GO:0030054 cell junction
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
Endocytosis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q5JU85
TrEMBL C7SDG2
UniProt Splice Variant
Entrez Gene 23096
UniGene Hs.496138
RefSeq NM_001111125 XM_006724580 NM_015075
HUGO HGNC:29059
OMIM 300522
CCDS CCDS48130 CCDS35298
HPRD 10012
IMGT
EMBL AB011094 AK095232 AL139396 AL161779 FJ154891 FJ154892
GenPept ACR15956 ACR15957 BAA25448 BAG53009 CAI39832 CAI39839 CAI42091
RNA Seq Atlas 23096