Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Sah M |
Year: |
2020 |
Journal: |
Neurobiol Dis |
Title: |
Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease. |
Volume: |
137 |
|
Pages: |
104758 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lichtman D |
Year: |
2021 |
Journal: |
Transl Psychiatry |
Title: |
Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior. |
Volume: |
11 |
Issue: |
1 |
Pages: |
181 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rogers EJ |
Year: |
2019 |
Journal: |
Front Mol Neurosci |
Title: |
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. |
Volume: |
12 |
|
Pages: |
43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jabarin R |
Year: |
2021 |
Journal: |
Transl Psychiatry |
Title: |
Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation. |
Volume: |
11 |
Issue: |
1 |
Pages: |
234 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mehta A |
Year: |
2021 |
Journal: |
Cells |
Title: |
IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex. |
Volume: |
10 |
Issue: |
10 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Jada R |
Year: |
2023 |
Journal: |
Int J Mol Sci |
Title: |
Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction. |
Volume: |
24 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bai G |
Year: |
2023 |
Journal: |
J Cell Biol |
Title: |
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions. |
Volume: |
222 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hinze SJ |
Year: |
2017 |
Journal: |
Transl Psychiatry |
Title: |
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1110 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jackson MR |
Year: |
2019 |
Journal: |
Life Sci Alliance |
Title: |
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. |
Volume: |
2 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6390612 |
Assay Type: |
RT-PCR |
Annotation Date: |
2020-02-19 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689427 |
|
Stage: |
TS27 |
Assay Id: |
MGI:6390964 |
Age: |
postnatal day 1 |
Image: |
S8 |
|
Specimen Label: |
P1 brain |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Katsumata O |
Year: |
2009 |
Journal: |
Eur J Neurosci |
Title: |
IQ-ArfGEF/BRAG1 is associated with synaptic ribbons in the mouse retina. |
Volume: |
30 |
Issue: |
8 |
Pages: |
1509-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tsuchiya KD |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse. |
Volume: |
14 |
Issue: |
7 |
Pages: |
1275-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sanda M |
Year: |
2009 |
Journal: |
Brain Res |
Title: |
The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence. |
Volume: |
1251 |
|
Pages: |
7-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sakagami H |
Year: |
2008 |
Journal: |
Neurosci Res |
Title: |
IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses. |
Volume: |
60 |
Issue: |
2 |
Pages: |
199-212 |
|
•
•
•
•
•
|
Publication |
First Author: |
Elagabani MN |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation. |
Volume: |
291 |
Issue: |
17 |
Pages: |
9105-18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Filippova GN |
Year: |
2005 |
Journal: |
Dev Cell |
Title: |
Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. |
Volume: |
8 |
Issue: |
1 |
Pages: |
31-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Scholz R |
Year: |
2010 |
Journal: |
Neuron |
Title: |
AMPA receptor signaling through BRAG2 and Arf6 critical for long-term synaptic depression. |
Volume: |
66 |
Issue: |
5 |
Pages: |
768-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kinoshita-Kawada M |
Year: |
2019 |
Journal: |
Development |
Title: |
A crucial role for Arf6 in the response of commissural axons to Slit. |
Volume: |
146 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2012 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by The Jackson Laboratory |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
IQ motif and Sec7 domain 2; endonuclease-mediated mutation 1, Andrew P Levy |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Constitutively active, Humanized sequence |
|
•
•
•
•
•
|
Publication |
First Author: |
Shoubridge C |
Year: |
2010 |
Journal: |
Small GTPases |
Title: |
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. |
Volume: |
1 |
Issue: |
2 |
Pages: |
98-103 |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Sakagami H |
Year: |
2013 |
Journal: |
J Comp Neurol |
Title: |
Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina. |
Volume: |
521 |
Issue: |
4 |
Pages: |
860-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fukaya M |
Year: |
2011 |
Journal: |
J Neurochem |
Title: |
SynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapses. |
Volume: |
116 |
Issue: |
6 |
Pages: |
1122-37 |
|
•
•
•
•
•
|
Publication |
First Author: |
Aizel K |
Year: |
2013 |
Journal: |
PLoS Biol |
Title: |
Integrated conformational and lipid-sensing regulation of endosomal ArfGEF BRAG2. |
Volume: |
11 |
Issue: |
9 |
Pages: |
e1001652 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The IQSEC (IQ motif and SEC7 domain-containing protein), also called BRAG (Brefeldin A-resistant Arf-gunanine nucleotide exchange factor) family are a subset of Arf GEFs that have been shown to activate Arf6, which acts in the endocytic pathway to control the trafficking of a subset of cargo proteins including integrins. IQSEC family also have key roles in the function and organization of distinct excitatory and inhibitory synapses in the retina [, ]. The family consists of 3 members: IQSEC1 (also called BRAG2/GEP100), IQSEC2 (also called BRAG1), and IQSEC3 (also called SynArfGEF, BRAG3, or KIAA1110). IQSEC1 interacts with clathrin and modulates cell adhesion by regulating integrin surface expression and in addition to Arf6, it also activates the class II Arfs, Arf4 and Arf5 []. Mutations in IQSEC2 cause non-syndromic X-linked intellectual disability as well as reduced activation of Arf substrates (Arf1, Arf6) []. IQSEC3 regulates Arf6 at inhibitory synapses and associates with the dystrophin-associated glycoprotein complex and S-SCAM [].These IQSEC family members contain a IQ domain that may bind calmodulin, a PH domain that is thought to mediate membrane localization, and a SEC7 domain that can promote GEF activity on ARF []. The PH domain of BRAG2 has been shown to potentiate nucleotide exchange by binding to polyanionic membranes without marked phosphoinositides preference []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Dunphy JL |
Year: |
2006 |
Journal: |
Curr Biol |
Title: |
The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins. |
Volume: |
16 |
Issue: |
3 |
Pages: |
315-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Moravec R |
Year: |
2012 |
Journal: |
J Biol Chem |
Title: |
BRAG2/GEP100/IQSec1 interacts with clathrin and regulates α5β1 integrin endocytosis through activation of ADP ribosylation factor 5 (Arf5). |
Volume: |
287 |
Issue: |
37 |
Pages: |
31138-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Casanova JE |
Year: |
2007 |
Journal: |
Traffic |
Title: |
Regulation of Arf activation: the Sec7 family of guanine nucleotide exchange factors. |
Volume: |
8 |
Issue: |
11 |
Pages: |
1476-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Briševac D |
Year: |
2021 |
Journal: |
J Neurochem |
Title: |
The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome. |
Volume: |
157 |
Issue: |
3 |
Pages: |
666-683 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li N |
Year: |
2008 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus. |
Volume: |
105 |
Issue: |
44 |
Pages: |
17055-60 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1195
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
961
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1479
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1099
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1051
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
766
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
788
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1478
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
949
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1154
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1488
 |
Fragment?: |
false |
|
•
•
•
•
•
|