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Kmt2a lysine (K)-specific methyltransferase 2A [ Mus musculus (house mouse) ]

Gene ID: 214162, updated on 8-Dec-2022

Summary

Official Symbol
Kmt2aprovided by MGI
Official Full Name
lysine (K)-specific methyltransferase 2Aprovided by MGI
Primary source
MGI:MGI:96995
See related
Ensembl:ENSMUSG00000002028 AllianceGenome:MGI:96995
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
HRX; Mll; All1; Mll1; ALL-1; Cxxc7; HTRX1; mKIAA4050; 6430520K01
Summary
Enables DNA binding activity; chromatin binding activity; and histone methyltransferase activity (H3-K4 specific). Involved in several processes, including definitive hemopoiesis; regulation of gene expression; and regulation of histone modification. Acts upstream of or within several processes, including hematopoietic or lymphoid organ development; macromolecule methylation; and regulation of histone modification. Located in nucleus. Is expressed in several structures, including extraembryonic component; genitourinary system; hematopoietic system; nervous system; and retina. Used to study acute lymphoblastic leukemia and acute myeloid leukemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; mixed phenotype acute leukemia; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 13.7), spleen adult (RPKM 10.1) and 28 other tissues See more
Orthologs
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Genomic context

See Kmt2a in Genome Data Viewer
Location:
9 A5.2; 9 24.84 cM
Exon count:
38
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (44714652..44793492, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (44803355..44881352, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 46 Neighboring gene transmembrane protein 25 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene predicted gene, 39326 Neighboring gene predicted gene, 30883 Neighboring gene predicted gene, 26249

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)
  • Targeted (23)  1 citation
  • Endonuclease-mediated (4) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA4050

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone H3K4 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
enables histone H3K4 monomethyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables lysine-acetylated histone binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-cysteine methyltransferase activity ISO
Inferred from Sequence Orthology
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
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T-helper 2 cell differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within anterior/posterior pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in definitive hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within exploration behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histone H3-K4 dimethylation ISO
Inferred from Sequence Orthology
more info
 
involved_in histone H3-K4 methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone H3-K4 monomethylation ISO
Inferred from Sequence Orthology
more info
 
involved_in histone H3-K4 trimethylation ISO
Inferred from Sequence Orthology
more info
 
involved_in histone modification ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within homeostasis of number of cells within a tissue IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA methylation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within peptidyl-lysine monomethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transporter activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within post-embryonic development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of short-term neuronal synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within rhythmic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within spleen development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in transcription initiation-coupled chromatin remodeling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within visual learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MLL1 complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
part_of histone methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of histone methyltransferase complex ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
histone-lysine N-methyltransferase 2A
Names
cysteine methyltransferase KMT2A
histone-lysine N-methyltransferase MLL
myeloid/lymphoid or mixed-lineage leukemia protein 1
trithorax Drosophila
zinc finger protein HRX
NP_001344478.1
XP_006510191.1
XP_011240744.1
XP_011240745.1
XP_011240746.1
XP_030100077.1
XP_036010712.1

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_001357549.2NP_001344478.1  histone-lysine N-methyltransferase 2A

    Status: VALIDATED

    Source sequence(s)
    AC061963, AC142113, AC166048
    Related
    ENSMUSP00000110337.2, ENSMUST00000114689.8
    Conserved Domains (10) summary
    cd05493
    Location:16491779
    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:36663749
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:38283948
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801529
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15671626
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18731985
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05964
    Location:20262073
    FYRN; F/Y-rich N-terminus
    cl25496
    Location:31523361
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    44714652..44793492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011242443.4XP_011240745.1  histone-lysine N-methyltransferase 2A isoform X2

    Conserved Domains (10) summary
    cd05493
    Location:16481778
    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:36653748
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801528
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15661625
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18721984
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:31513360
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:20252072
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:38123965
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  2. XM_030244217.2XP_030100077.1  histone-lysine N-methyltransferase 2A isoform X4

    Conserved Domains (10) summary
    cd05493
    Location:16461776
    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:36623745
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801529
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15671623
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18691981
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:31483357
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:20222069
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:38093962
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  3. XM_006510128.4XP_006510191.1  histone-lysine N-methyltransferase 2A isoform X3

    Conserved Domains (10) summary
    cd05493
    Location:16461776
    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:36633746
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801529
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15671623
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18701982
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:31493358
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:20232070
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:38103963
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  4. XM_011242442.4XP_011240744.1  histone-lysine N-methyltransferase 2A isoform X1

    Conserved Domains (10) summary
    cd05493
    Location:16491779
    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:36653748
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801529
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15671626
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18721984
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:31513360
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:20252072
    FYRN; F/Y-rich N-terminus
    cd19170
    Location:38123965
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
  5. XM_036154819.1XP_036010712.1  histone-lysine N-methyltransferase 2A isoform X6

    Conserved Domains (9) summary
    cd05493
    Location:443573
    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:24602543
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:226272
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:274323
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:361420
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:667779
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:19462155
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd19170
    Location:26072760
    SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    pfam05964
    Location:820867
    FYRN; F/Y-rich N-terminus
  6. XM_011242444.4XP_011240746.1  histone-lysine N-methyltransferase 2A isoform X5

    Conserved Domains (9) summary
    cd05493
    Location:16491779
    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:36663749
    FYRC; FY-rich domain, C-terminal region
    cd15588
    Location:14321478
    PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15590
    Location:14801529
    PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15592
    Location:15671626
    PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
    cd15693
    Location:18731985
    ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
    pfam05109
    Location:31523361
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam02008
    Location:11441191
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:20262073
    FYRN; F/Y-rich N-terminus

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001081049.1: Suppressed sequence

    Description
    NM_001081049.1: This RefSeq was removed because currently there is insufficient support for the transcript and protein.