| Primary Identifier | MGI:95777 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14683 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables G protein activity and adenylate cyclase activator activity. Involved in cellular response to glucagon stimulus; positive regulation of cold-induced thermogenesis; and regulation of growth. Acts upstream of or within several processes, including adenylate cyclase-activating dopamine receptor signaling pathway; positive regulation of cell differentiation; and skeletal system development. Located in dendrite and membrane. Is active in plasma membrane. Is expressed in several structures, including blastocyst-stage conceptus; brain; extraembryonic component; gonad; and somite. Used to study pseudohypoparathyroidism; pseudohypoparathyroidism type 1A; pseudopseudohypoparathyroidism; and schizophrenia. Human ortholog(s) of this gene implicated in several diseases, including ACTH-independent macronodular adrenal hyperplasia 1; McCune Albright syndrome; pituitary adenoma 3; progressive osseous heteroplasia; and pseudohypoparathyroidism (multiple). Orthologous to human GNAS (GNAS complex locus). PHENOTYPE: Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies. [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
