Version 5.4
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
IDBP-69710
IQ motif and Sec7 domain 2
IDBP-237515
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
ENSMUSG00000041115
View Gene Order
ENSBTAG00000014945
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04144
Endocytosis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.496138
RefSeq NM_001111125 NM_015075 XM_006724580
HUGO
OMIM
CCDS CCDS35298 CCDS48130
HPRD 10012
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca