Primary Identifier | MGI:1917483 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 70233 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ribonucleoprotein complex binding activity. Predicted to be involved in RNA splicing and mRNA processing. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Predicted to be part of U5 snRNP. Predicted to colocalize with nuclear speck. Is expressed in several structures, including adrenal gland; central nervous system; genitourinary system; immune system; and lung. Orthologous to human CD2BP2 (CD2 cytoplasmic tail binding protein 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E9.5 and E10.5. Mice homozygous for a conditional allele activated in podocytes exhibit proteinuria, weight loss, premature death, glomerulosclerosis, mesangial cell hyperplasia, renal tubule casts, and podocyte foot process effacement. [provided by MGI curators] |