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Protein Coding Gene : Dab2 disabled 2, mitogen-responsive phosphoprotein

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 7.1.0)

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]
  • synonyms:
  • MGI:107243,
  • 5730435J12Rik,
  • D630005B22Rik,
  • MGD-MRK-35708,
  • p96,
  • MGI:3045240,
  • MGD-MRK-38219,
  • DNA segment, Chr 15, Wayne State University 122, expressed,
  • AA960054,
  • expressed sequence AA960054,
  • RIKEN cDNA D630005B22 gene,
  • expressed sequence AI957090,
  • MGI:2145932,
  • RIKEN cDNA 5730435J12 gene,
  • MGI:1917805,
  • disabled 2, mitogen-responsive phosphoprotein,
  • AI957090,
  • MGI:2146101,
  • Dab2,
  • D15Wsu122e

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