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Protein Coding Gene : Kmt2a lysine (K)-specific methyltransferase 2A

Primary Identifier  MGI:96995 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  214162
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables DNA binding activity; chromatin binding activity; and histone H3K4 methyltransferase activity. Involved in circadian regulation of gene expression; definitive hemopoiesis; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including regulation of short-term neuronal synaptic plasticity; spleen development; and visual learning. Located in nucleus. Is expressed in several structures, including extraembryonic component; genitourinary system; nervous system; retina; and trunk mesenchyme. Used to study acute lymphoblastic leukemia; acute myeloid leukemia; and leukemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A).
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton. [provided by MGI curators]
  • synonyms:
  • ALL-1,
  • trithorax Drosophila,
  • Mll1,
  • lysine (K)-specific methyltransferase 2A,
  • acute lymphocytic leukemia,
  • MGD-MRK-1281,
  • HTRX1,
  • myeloid/lymphoid or mixed-lineage leukemia 1,
  • Mll,
  • All1,
  • myeloid/lymphoid or mixed-lineage leukemia,
  • Cxxc7,
  • MGD-MRK-12254,
  • Kmt2a

Features --> Cross References

Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

11 Pathways

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Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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