| Primary Identifier | MGI:2384831 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 212139 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of postsynapse assembly. Acts upstream of or within several processes, including apical dendrite arborization; negative regulation of transcription by RNA polymerase II; and regulation of respiratory gaseous exchange by nervous system process. Located in cytosol and endosome membrane. Is active in glutamatergic synapse. Is expressed in brain. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 3 and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [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
