Primary Identifier | MGI:2443298 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 214133 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 5-methylcytosine dioxygenase activity. Involved in myeloid cell differentiation; positive regulation of transcription by RNA polymerase II; and protein O-linked glycosylation. Acts upstream of or within several processes, including hematopoietic stem cell homeostasis; myeloid progenitor cell differentiation; and positive regulation of gene expression, epigenetic. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; extraembryonic component; immune system; lower urogenital tract; and reproductive system. Human ortholog(s) of this gene implicated in gastrointestinal system cancer (multiple); hematologic cancer (multiple); lung non-small cell carcinoma; and primary immunodeficiency disease. Orthologous to human TET2 (tet methylcytosine dioxygenase 2). PHENOTYPE: Mice homozygous for a gene trapped allele die shortly after birth and exhibit a loss of acidic granules in the proximal convoluted tubules of the kidneys. Mice homozygous for a conditional allele activated in hematopoeitic compartment exhibit self-renewal and myeloid transforamtion. [provided by MGI curators] |