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Kmt2b lysine (K)-specific methyltransferase 2B [ Mus musculus (house mouse) ]

Gene ID: 75410, updated on 9-May-2024

Summary

Official Symbol
Kmt2bprovided by MGI
Official Full Name
lysine (K)-specific methyltransferase 2Bprovided by MGI
Primary source
MGI:MGI:109565
See related
Ensembl:ENSMUSG00000006307 AllianceGenome:MGI:109565
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mll2; Wbp7; mKIAA0304; 2610014H22Rik
Summary
Predicted to enable histone methyltransferase activity (H3-K4 specific); unmethylated CpG binding activity; and zinc ion binding activity. Acts upstream of or within several processes, including DNA methylation-dependent heterochromatin assembly; female gamete generation; and histone H3-K4 trimethylation. Predicted to be located in nucleus. Predicted to be part of histone methyltransferase complex. Is expressed in several structures, including alimentary system; inner cell mass; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma; dystonia; and hepatocellular carcinoma. Orthologous to human KMT2B (lysine methyltransferase 2B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 33.1), spleen adult (RPKM 20.9) and 28 other tissues See more
Orthologs
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Genomic context

See Kmt2b in Genome Data Viewer
Location:
7 B1; 7 18.63 cM
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30268280..30288371, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (30568855..30589056, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1338 Neighboring gene STARR-positive B cell enhancer ABC_E4917 Neighboring gene presenilin enhancer gamma secretase subunit Neighboring gene U2 small nuclear RNA auxiliary factor 1-like 4 Neighboring gene IGF-like family receptor 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:31373997-31374106 Neighboring gene STARR-positive B cell enhancer mm9_chr7:31374455-31374756 Neighboring gene microRNA 3569 Neighboring gene STARR-positive B cell enhancer ABC_E11347 Neighboring gene zinc finger and BTB domain containing 32 Neighboring gene STARR-positive B cell enhancer ABC_E11348

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables histone H3K4 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables histone H3K4 methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables histone H3K4 methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone H3K4 methyltransferase activity ISO
Inferred from Sequence Orthology
more info
PubMed 
enables histone H3K4 monomethyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables unmethylated CpG binding ISO
Inferred from Sequence Orthology
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of MLL1/2 complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of histone methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of histone methyltransferase complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
histone-lysine N-methyltransferase 2B
Names
WBP-7
WW domain binding protein 7
histone-lysine N-methyltransferase MLL4
lysine N-methyltransferase 2B
mixed lineage leukemia 2
myeloid/lymphoid or mixed-lineage leukemia protein 4 homolog
trithorax homolog 2
NP_001277502.1
NP_083550.2
XP_006540471.1
XP_011249035.1
XP_036009396.1
XP_036009397.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001290573.1NP_001277502.1  histone-lysine N-methyltransferase 2B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC167970, BC056344
    UniProtKB/TrEMBL
    Q6PHU4
    Conserved Domains (10) summary
    cd05493
    Location:13801522
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:24202504
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:25842704
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:25662722
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    pfam02008
    Location:9631010
    zf-CXXC; CXXC zinc finger domain
    cd15589
    Location:12091255
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:12571306
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:13431399
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:15871691
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam05964
    Location:17401786
    FYRN; F/Y-rich N-terminus
  2. NM_029274.2NP_083550.2  histone-lysine N-methyltransferase 2B isoform 2

    See identical proteins and their annotated locations for NP_083550.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB182318, CJ121348, CJ240818, U92455
    Consensus CDS
    CCDS21101.1
    UniProtKB/Swiss-Prot
    E9QKF4, O08550, Q5NU09
    Related
    ENSMUSP00000103789.3, ENSMUST00000108154.9
    Conserved Domains (10) summary
    cd05493
    Location:13801522
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:24112495
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:25752695
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:25572713
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    pfam02008
    Location:9631010
    zf-CXXC; CXXC zinc finger domain
    cd15589
    Location:12091255
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:12571306
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:13431399
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:15871691
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam05964
    Location:17401786
    FYRN; F/Y-rich N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    30268280..30288371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540408.3XP_006540471.1  histone-lysine N-methyltransferase 2B isoform X1

    UniProtKB/TrEMBL
    F8WJ40
    Related
    ENSMUSP00000006470.8, ENSMUST00000006470.14
    Conserved Domains (11) summary
    cd05493
    Location:13801522
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:24192503
    FYRC; FY-rich domain, C-terminal region
    PHA03307
    Location:18142193
    PHA03307; transcriptional regulator ICP4; Provisional
    PHA03378
    Location:483702
    PHA03378; EBNA-3B; Provisional
    cd15589
    Location:12091255
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:12571306
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:13431399
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:15871691
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam02008
    Location:9631010
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:17391786
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:25682721
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  2. XM_036153503.1XP_036009396.1  histone-lysine N-methyltransferase 2B isoform X3

    UniProtKB/TrEMBL
    Q8CHH1
    Conserved Domains (9) summary
    cd05493
    Location:311453
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:13511435
    FYRC; FY-rich domain, C-terminal region
    PHA03247
    Location:7291153
    PHA03247; large tegument protein UL36; Provisional
    cd15589
    Location:140186
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:188237
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:274330
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:518622
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    cd19170
    Location:15001653
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    pfam05964
    Location:670717
    FYRN; F/Y-rich N-terminus
  3. XM_011250733.3XP_011249035.1  histone-lysine N-methyltransferase 2B isoform X2

    UniProtKB/TrEMBL
    Q8CHH1
    Related
    ENSMUSP00000118486.2, ENSMUST00000131002.2
    Conserved Domains (9) summary
    cd05493
    Location:363505
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:14031487
    FYRC; FY-rich domain, C-terminal region
    PHA03247
    Location:7811205
    PHA03247; large tegument protein UL36; Provisional
    cd15589
    Location:192238
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:240289
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:326382
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:570674
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam05964
    Location:722769
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:15521705
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  4. XM_036153504.1XP_036009397.1  histone-lysine N-methyltransferase 2B isoform X3

    UniProtKB/TrEMBL
    Q8CHH1
    Conserved Domains (9) summary
    cd05493
    Location:311453
    Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
    smart00542
    Location:13511435
    FYRC; FY-rich domain, C-terminal region
    PHA03247
    Location:7291153
    PHA03247; large tegument protein UL36; Provisional
    cd15589
    Location:140186
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:188237
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:274330
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:518622
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    cd19170
    Location:15001653
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    pfam05964
    Location:670717
    FYRN; F/Y-rich N-terminus