| Primary Identifier | MGI:3528396 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 245666 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including modulation of chemical synaptic transmission; positive regulation of synapse assembly; and regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Is active in several cellular components, including photoreceptor ribbon synapse; postsynaptic density; and presynaptic active zone cytoplasmic component. 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). PHENOTYPE: Mice heterozygous or hemizygous for a null allele exhibit spontaneous seizures, hyperaticvity, altered anxiety and fear responses, decreased social interactions, delayed learning capacity and decreased memory retention/novel recognition. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
