| Primary Identifier | MGI:2665170 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 231602 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables extracellularly ATP-gated monoatomic cation channel activity. Involved in sensory perception of sound. Acts upstream of or within several processes, including neuromuscular synaptic transmission; skeletal muscle fiber development; and smooth muscle contraction. Located in plasma membrane. Is active in neuronal dense core vesicle. Is expressed in facial ganglion; heart; medulla oblongata basal plate mantle layer; and vagus ganglion. Used to study autosomal dominant nonsyndromic deafness 41. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 41. Orthologous to human P2RX2 (purinergic receptor P2X 2). PHENOTYPE: Homozygous mutant mice are viable and show no gross pathology but show abnormal ventilatory and electrophysiological responses to hypoxia. Mice heterozygous for a p.V61L mutation experience progressive sensorineural hearing loss and increased sensitivity to thermal pain. [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
