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Kmt2b Gene Detail
Summary
  • Symbol
    Kmt2b
  • Name
    lysine (K)-specific methyltransferase 2B
  • Synonyms
    2610014H22Rik, mKIAA0304, Mll2, Wbp7
  • Feature Type
    protein coding gene
  • IDs
    MGI:109565
    NCBI Gene: 75410
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:30268283-30288151 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 18.63 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    285 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109565
 protein coding gene Chr7:30268280-30288371 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032031
 protein coding gene Chr7:29576704-29597288 (-)
A/J MGP_AJ_G0032008
 protein coding gene Chr7:28774161-28794200 (-)
AKR/J MGP_AKRJ_G0031941
 protein coding gene Chr7:29505295-29525187 (-)
BALB/cJ MGP_BALBcJ_G0032015
 protein coding gene Chr7:28961595-28981487 (-)
C3H/HeJ MGP_C3HHeJ_G0031734
 protein coding gene Chr7:29964418-29984286 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032481
 protein coding gene Chr7:30538874-30558742 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029531
 protein coding gene Chr7:29801513-29820947 (-)
CAST/EiJ MGP_CASTEiJ_G0031068
 protein coding gene Chr7:23217004-23236927 (-)
CBA/J MGP_CBAJ_G0031700
 protein coding gene Chr7:31993835-32013703 (-)
DBA/2J MGP_DBA2J_G0031852
 protein coding gene Chr7:28502576-28522513 (-)
FVB/NJ MGP_FVBNJ_G0031809
 protein coding gene Chr7:28634286-28654154 (-)
LP/J MGP_LPJ_G0031933
 protein coding gene Chr7:29883616-29903553 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031845
 protein coding gene Chr7:31227739-31249255 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032509
 protein coding gene Chr7:29016202-29036159 (-)
PWK/PhJ MGP_PWKPhJ_G0030792
 protein coding gene Chr7:23539936-23560080 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030627
 protein coding gene Chr7:20024461-20049282 (-)
WSB/EiJ MGP_WSBEiJ_G0031178
 protein coding gene Chr7:29404324-29425469 (-)



Homology
more
  • Human Ortholog
    KMT2B, lysine methyltransferase 2B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT2B, lysine methyltransferase 2B
  • Synonyms
    CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7
  • Links
    NCBI Gene ID: 9757
    neXtProt AC: NX_Q9UMN6
    UniProt: Q9UMN6

  • Chr Location
    19q13.12; chr19:35717973-35738880 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human KMT2B associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    58 phenotypes from 7 alleles in 13 genetic backgrounds
    2 phenotypes from multigenic genotypes
    23 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.
Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    10
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
    819
  • Tissues
    106
  • cDNA Data
    106
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006307 Ensembl Gene Model | MGI Sequence Detail 19869 C57BL/6J ±  kb
    transcript ENSMUST00000006470 Ensembl | MGI Sequence Detail 8469 Not Applicable  
    polypeptide ENSMUSP00000006470 Ensembl | MGI Sequence Detail 2721 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 109
      cDNA 108
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-39564, MGI:1922660
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 13
      Gene Ontology 10
      Phenotypes 23
    • Earliest
      J:38792 Chan DC, et al., Formin binding proteins bear WWP/WW domains that bind proline-rich peptides and functionally resemble SH3 domains. EMBO J. 1996 Mar 1;15(5):1045-54
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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