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Kmt2c Gene Detail
Summary
  • Symbol
    Kmt2c
  • Name
    lysine (K)-specific methyltransferase 2C
  • Synonyms
    E330008K23Rik, HALR, mKIAA1506, Mll3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444959
    NCBI Gene: 231051
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:25476796-25703781 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 12.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    4685 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444959
 protein coding gene Chr5:25476793-25703853 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029361
 protein coding gene Chr5:23050254-23294325 (-)
A/J MGP_AJ_G0029327
 protein coding gene Chr5:22245885-22478686 (-)
AKR/J MGP_AKRJ_G0029278
 protein coding gene Chr5:23147492-23397348 (-)
BALB/cJ MGP_BALBcJ_G0029338
 protein coding gene Chr5:22757056-22988408 (-)
C3H/HeJ MGP_C3HHeJ_G0029058
 protein coding gene Chr5:23251283-23497260 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029791
 protein coding gene Chr5:24581467-24824904 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027029
 protein coding gene Chr5:20162962-20397365 (-)
CAST/EiJ MGP_CASTEiJ_G0028470
 protein coding gene Chr5:22462406-22704043 (-)
CBA/J MGP_CBAJ_G0029025
 protein coding gene Chr5:25007545-25260262 (-)
DBA/2J MGP_DBA2J_G0029176
 protein coding gene Chr5:22523611-22750040 (-)
FVB/NJ MGP_FVBNJ_G0029134
 protein coding gene Chr5:21915589-22140266 (-)
LP/J MGP_LPJ_G0029260
 protein coding gene Chr5:23451594-23693179 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029163
 protein coding gene Chr5:26050784-26316181 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029825
 protein coding gene Chr5:22781639-23017397 (-)
PWK/PhJ MGP_PWKPhJ_G0028194
 protein coding gene Chr5:21627633-21870923 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028025
 protein coding gene Chr5:22134504-22368818 (-)
WSB/EiJ MGP_WSBEiJ_G0028550
 protein coding gene Chr5:22861619-23099863 (-)



Homology
more
  • Human Ortholog
    KMT2C, lysine methyltransferase 2C
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT2C, lysine methyltransferase 2C
  • Synonyms
    HALR, KLEFS2, MLL3
  • Links
    NCBI Gene ID: 58508
    neXtProt AC: NX_Q8NEZ4
    UniProt: Q8NEZ4

  • Chr Location
    7q36.1; chr7:152134922-152436644 (-)  GRCh38
Human Diseases
more
  • Diseases
    8 with human KMT2C associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    1 images
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    932
  • Tissues
    199
  • cDNA Data
    26
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038056 Ensembl Gene Model | MGI Sequence Detail 226986 C57BL/6J ±  kb
    transcript ENSMUST00000045291 Ensembl | MGI Sequence Detail 14967 Not Applicable  
    polypeptide ENSMUSP00000043874 Ensembl | MGI Sequence Detail 4904 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 26
      Primer pair 2

      Microarray probesets 7
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 15
      Diseases 1
      Gene Ontology 11
      Phenotypes 37
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:353601 Wang HC, et al., Kmt2c restricts G-CSF-driven HSC mobilization and granulocyte production in a methyltransferase-independent manner. Cell Rep. 2024 Aug 27;43(8):114542
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory