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Gene: IQSEC2 (IQ motif and Sec7 domain 2) Homo sapiens
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Symbol: IQSEC2
Name: IQ motif and Sec7 domain 2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRAG1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1b; brefeldin A resistant Arf-guanine nucleotide exchange factor 1c; IQ motif and SEC7 domain-containing protein 2; IQ-ArfGEF; KIAA0522; mental retardation, X-linked 1 (non-dysmorphic); mental retardation, X-linked 18; mental retardation, X-linked 78; MRX1; MRX18; MRX78
Orthologs:
Mus musculus (house mouse) : Iqsec2 (IQ motif and Sec7 domain 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Iqsec2 (IQ motif and Sec7 domain 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Iqsec2 (IQ motif and Sec7 domain 2)
Pan paniscus (bonobo/pygmy chimpanzee) : IQSEC2 (IQ motif and Sec7 domain 2)
Canis lupus familiaris (dog) : IQSEC2 (IQ motif and Sec7 domain 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Iqsec2 (IQ motif and Sec7 domain 2)
Sus scrofa (pig) : IQSEC2 (IQ motif and Sec7 domain 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X53,225,784 - 53,321,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,262,058 - 53,350,522 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,278,783 - 53,327,521 (-)NCBINCBI36hg18NCBI36
CeleraX57,091,294 - 57,179,759 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,327,195 - 50,414,951 (-)NCBIHuRef
CHM1_1X53,252,281 - 53,340,767 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on IQSEC2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1353175
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.