Primary Identifier | MGI:109175 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 13132 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including AP-2 adaptor complex binding activity; clathrin adaptor activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of receptor-mediated endocytosis; and positive regulation of signal transduction. Acts upstream of or within several processes, including hematopoietic stem cell proliferation; negative regulation of extrinsic apoptotic signaling pathway; and renal protein absorption. Located in apical plasma membrane. Part of clathrin coat of coated pit. Is expressed in several structures, including 8-cell stage embryo; central nervous system; egg cylinder; embryo mesenchyme; and metanephros. Orthologous to human DAB2 (DAB adaptor protein 2). PHENOTYPE: Homozygous null mutants exhibit abnormal primitive endoderm structure and/or function, lack a proamniotic cavity and die prior to embryonic day 9.5. A conditional mutant survives, but shows kidney proximal tubule abnormality. [provided by MGI curators] |