Primary Identifier | MGI:1927197 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 56392 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein phosphatase 1 binding activity and volume-sensitive anion channel activity. Predicted to be involved in several processes, including cyclic-GMP-AMP transmembrane import across plasma membrane; nerve growth factor signaling pathway; and regulation of neuron differentiation. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of protein phosphatase type 1 complex. Predicted to be active in cytoplasm. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Noonan syndrome-like disorder with loose anagen hair 1 and atopic dermatitis. Orthologous to human SHOC2 (SHOC2 leucine rich repeat scaffold protein). PHENOTYPE: Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. [provided by MGI curators] |