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Protein Coding Gene : Nsd2 nuclear receptor binding SET domain protein 2

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 7.0.0)

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]
  • synonyms:
  • Whsc1,
  • RIKEN cDNA 9430010A17 gene,
  • MGI:2442363,
  • mKIAA1090,
  • Wolf-Hirschhorn syndrome candidate 1 (human),
  • RIKEN cDNA D030027O06 gene,
  • RIKEN cDNA C130020C13 gene,
  • MGI:1924531,
  • 5830445G22Rik,
  • D930023B08Rik,
  • expressed sequence AW555663,
  • RIKEN cDNA D930023B08 gene,
  • C130020C13Rik,
  • 9430010A17Rik,
  • AW555663,
  • RIKEN cDNA 5830445G22 gene,
  • D030027O06Rik,
  • Nsd2,
  • Wolf-Hirschhorn syndrome candidate 1-like,
  • MGI:2443975,
  • MGI:2141235,
  • Whsc1l,
  • MGI:2442003,
  • nuclear receptor binding SET domain protein 2,
  • MGI:1923296

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9 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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