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Protein Coding Gene : Kmt2c lysine (K)-specific methyltransferase 2C

Primary Identifier  MGI:2444959 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  231051
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables histone H3K4 methyltransferase activity. Acts upstream of or within several processes, including eyelid development in camera-type eye; positive regulation of fibroblast proliferation; and single fertilization. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including eye; genitourinary system; limb; nervous system; and neural ectoderm. Human ortholog(s) of this gene implicated in Kleefstra syndrome 2; carcinoma (multiple); and stomach cancer. Orthologous to human KMT2C (lysine methyltransferase 2C).
PHENOTYPE: Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. [provided by MGI curators]
  • synonyms:
  • Kmt2c,
  • myeloid/lymphoid or mixed-lineage leukemia 3,
  • mKIAA1506,
  • HALR,
  • RIKEN cDNA E330008K23 gene,
  • Mll3,
  • E330008K23Rik,
  • lysine (K)-specific methyltransferase 2C

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Genome

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5 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Mouse features --> Functions (GO terms)

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