Primary Identifier | MGI:1276574 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 107823 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity; histone H3K36 trimethyltransferase activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including bone development; cardiac septum morphogenesis; and regulation of nucleobase-containing compound metabolic process. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study Wolf-Hirschhorn syndrome. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma. Orthologous to human NSD2 (nuclear receptor binding SET domain protein 2). PHENOTYPE: Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum. [provided by MGI curators] |