Iqsec2 IQ motif and Sec7 domain 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Iqsec2provided by MGI
Official Full Name: IQ motif and Sec7 domain 2provided by MGI
Primary source: MGI:MGI:3528396
See related: Ensembl:ENSMUSG00000041115 AllianceGenome:MGI:3528396
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Brag1
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in actin cytoskeleton organization; modulation of chemical synaptic transmission; and regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Located in presynaptic active zone cytoplasmic component. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and postsynaptic density. Is expressed in brain. Used to study non-syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 1. Orthologous to human IQSEC2 (IQ motif and Sec7 domain ArfGEF 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in frontal lobe adult (RPKM 7.5), adrenal adult (RPKM 7.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F3; X 68.46 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (150927179..151008233)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (152144183..152225237)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Insights into IQSEC2 Disease.
Title: Molecular Insights into IQSEC2 Disease.
Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
Title: Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex.
Title: IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex.
Housing of A350V IQSEC2 pups at 37 degrees C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood.
Title: Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood.
Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.
Title: Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.
Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior.
Title: Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior.
Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
Title: Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
Human and mouse data reaffirm IQSEC2 as another disease gene with an unexpected X-chromosome heterozygous female phenotype. Our Iqsec2 mouse model recapitulates the phenotypes observed in human patients despite the differences in the IQSEC2/Iqsec2 gene X-chromosome inactivation between the species.
Title: Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
The observations of this study provide support for dosage sensitivity for IQSEC2, which normally escapes X-inactivation in humans and for the first time links these disturbances in expression with specific alterations to the morphology of developing neurons.
Title: Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.
both Arf6 activation through GluN2B-BRAG1 during early development and the transition from BRAG1- to BRAG2-dependent Arf6 signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in modulation of chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of long-term synaptic depression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synapse assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
involved_in regulation of ARF protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density membrane	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynaptic density membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic density, intracellular component	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density, intracellular component	IEP Inferred from Expression Pattern more info	PubMed
is_active_in presynaptic active zone cytoplasmic component	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: IQ motif and SEC7 domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001005475.3 → NP_001005475.1 IQ motif and SEC7 domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001005475.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate start site and an isoform (2) with distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AC083816

Consensus CDS

CCDS41177.1

UniProtKB/TrEMBL

D3Z6V7

Related

ENSMUSP00000093995.5, ENSMUST00000096275.5

Conserved Domains (2) summary

pfam01369
Location:548 → 736

Sec7; Sec7 domain

pfam16453
Location:756 → 888

IQ_SEC7_PH; PH domain
NM_001114664.3 → NP_001108136.1 IQ motif and SEC7 domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_001108136.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC083816

Consensus CDS

CCDS53224.1

UniProtKB/TrEMBL

A0A9L6KDT1, A4GZ26

Related

ENSMUSP00000127249.2, ENSMUST00000168786.9

Conserved Domains (3) summary

pfam01369
Location:753 → 941

Sec7; Sec7 domain

pfam13815
Location:20 → 65

Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

pfam16453
Location:966 → 1084

IQ_SEC7_PH; PH domain
NM_001405945.1 → NP_001392874.1 IQ motif and SEC7 domain-containing protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC083816

UniProtKB/TrEMBL

D3Z5I6

Related

ENSMUSP00000108223.2, ENSMUST00000112604.8
NM_001405946.1 → NP_001392875.1 IQ motif and SEC7 domain-containing protein 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC083816
NM_001405947.1 → NP_001392876.1 IQ motif and SEC7 domain-containing protein 2 isoform 5

Status: VALIDATED

Source sequence(s)

AC083816
NM_001405948.1 → NP_001392877.1 IQ motif and SEC7 domain-containing protein 2 isoform 6

Status: VALIDATED

Source sequence(s)

AC083816
NM_001405949.1 → NP_001392878.1 IQ motif and SEC7 domain-containing protein 2 isoform 7

Status: VALIDATED

Source sequence(s)

AC083816
NM_001405950.1 → NP_001392879.1 IQ motif and SEC7 domain-containing protein 2 isoform 8

Status: VALIDATED

Source sequence(s)

AC083816

UniProtKB/TrEMBL

A0A8V5KYN1

Related

ENSMUSP00000159486.1, ENSMUST00000146835.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

150927179..151008233

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528842.1 → XP_006528905.1 IQ motif and SEC7 domain-containing protein 2 isoform X1

UniProtKB/TrEMBL

A0A9L6KDT1

Conserved Domains (3) summary

pfam01369
Location:785 → 973

Sec7; Sec7 domain

pfam08614
Location:23 → 64

ATG16; Autophagy protein 16 (ATG16)

pfam16453
Location:993 → 1125

IQ_SEC7_PH; PH domain
XM_006528848.3 → XP_006528911.1 IQ motif and SEC7 domain-containing protein 2 isoform X7

Conserved Domains (2) summary

pfam01369
Location:785 → 973

Sec7; Sec7 domain

pfam16453
Location:993 → 1125

IQ_SEC7_PH; PH domain
XM_006528844.2 → XP_006528907.1 IQ motif and SEC7 domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

A0A9L6KDT1, E9QAD8

Related

ENSMUSP00000108224.2, ENSMUST00000112605.8

Conserved Domains (3) summary

pfam01369
Location:753 → 941

Sec7; Sec7 domain

pfam08614
Location:23 → 64

ATG16; Autophagy protein 16 (ATG16)

pfam16453
Location:961 → 1093

IQ_SEC7_PH; PH domain
XM_006528843.2 → XP_006528906.1 IQ motif and SEC7 domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

A0A9L6KDT1

Conserved Domains (3) summary

pfam01369
Location:775 → 963

Sec7; Sec7 domain

pfam08614
Location:23 → 64

ATG16; Autophagy protein 16 (ATG16)

pfam16453
Location:983 → 1115

IQ_SEC7_PH; PH domain
XM_006528845.2 → XP_006528908.1 IQ motif and SEC7 domain-containing protein 2 isoform X4

See identical proteins and their annotated locations for XP_006528908.1

UniProtKB/Swiss-Prot

E9QK46, Q5DU25

UniProtKB/TrEMBL

A0A9L6KDT1

Conserved Domains (3) summary

pfam01369
Location:743 → 931

Sec7; Sec7 domain

pfam08614
Location:23 → 64

ATG16; Autophagy protein 16 (ATG16)

pfam16453
Location:951 → 1083

IQ_SEC7_PH; PH domain
XM_006528846.5 → XP_006528909.1 IQ motif and SEC7 domain-containing protein 2 isoform X5

UniProtKB/TrEMBL

A0A9L6KDT1

Conserved Domains (2) summary

pfam01369
Location:548 → 736

Sec7; Sec7 domain

pfam16453
Location:756 → 888

IQ_SEC7_PH; PH domain
XM_006528847.5 → XP_006528910.1 IQ motif and SEC7 domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

A0A9L6KDT1

Conserved Domains (2) summary

pfam01369
Location:516 → 704

Sec7; Sec7 domain

pfam16453
Location:724 → 856

IQ_SEC7_PH; PH domain