Primary Identifier | MGI:108173 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 19092 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; mitogen-activated protein kinase binding activity; and protein kinase activity. Involved in cellular hypotonic response and negative regulation of cell volume. Acts upstream of or within circadian regulation of gene expression. Located in plasma membrane. Is expressed in brain; limb segment; lung; and small intestine. Human ortholog(s) of this gene implicated in acromesomelic dysplasia-4 and spondylometaphyseal dysplasia. Orthologous to human PRKG2 (protein kinase cGMP-dependent 2). PHENOTYPE: Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced. [provided by MGI curators] |