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

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: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the role of KMT2A and KMT2B, two histone H3 lysine 4 methylases with cardinal roles in development, through individual and combined inactivation, were investigated.
Title: KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.
Kmt2b has the capacity to prime stem cells epigenetically.
Title: Kmt2b conveys monovalent and bivalent H3K4me3 in mouse spermatogonial stem cells at germline and embryonic promoters.
KMT2A and KMT2B Mediate Memory Function by Affecting Distinct Genomic Regions
Title: KMT2A and KMT2B Mediate Memory Function by Affecting Distinct Genomic Regions.
The results reveal a critical role for Mll2 in proliferation and cardiac lineage differentiation of mouse ESCs, and provide novel molecular insight into the mechanisms of cardiac development and disease.
Title: Mll2 controls cardiac lineage differentiation of mouse embryonic stem cells by promoting H3K4me3 deposition at cardiac-specific genes.
Identify Mll2 (KMT2b) as the enzyme catalyzing H3K4 trimethylation at bivalently marked promoters in embryonic stem cells. Mll2 is required for H3K4 trimethylation at Homeobox gene clusters.
Title: The Mll2 branch of the COMPASS family regulates bivalent promoters in mouse embryonic stem cells.
study found in macrophages Wbp7 was required for expression of Pigp, an essential component of the GPI-GlcNAc transferase, the enzyme catalyzing the first step of glycosylphosphatidylinositol (GPI) anchor synthesis; data link a histone-modifying enzyme to a biosynthetic pathway and indicate a specialized biological role for Wbp7 in macrophage function
Title: The histone methyltransferase Wbp7 controls macrophage function through GPI glycolipid anchor synthesis.
ASCOM-MLL3 and ASCOM-MLL4 play redundant but essential roles in FXR transactivation via their histone 3 lysine 4 trimethylation activity.
Title: ASCOM controls farnesoid X receptor transactivation through its associated histone H3 lysine 4 methyltransferase activity.

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Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_2763-2764:991933378:3 (e-PCR)
- UniSTS:230945

Wbp7 (e-PCR), detects polymorphism
- UniSTS:547175

ksks195 (e-PCR)
- UniSTS:514225

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA methylation-dependent heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within maternal-to-zygotic transition of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within methylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovulation	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
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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

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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

EC 2.1.1.364

NP_083550.2

EC 2.1.1.364

XP_006540471.1

EC 2.1.1.364

XP_011249035.1

EC 2.1.1.364

XP_036009396.1

EC 2.1.1.364

XP_036009397.1

EC 2.1.1.364

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)

NM_001290573.1 → NP_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:1380 → 1522

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:2420 → 2504

FYRC; FY-rich domain, C-terminal region

smart00317
Location:2584 → 2704

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG2940
Location:2566 → 2722

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:963 → 1010

zf-CXXC; CXXC zinc finger domain

cd15589
Location:1209 → 1255

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:1257 → 1306

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:1343 → 1399

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:1587 → 1691

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

pfam05964
Location:1740 → 1786

FYRN; F/Y-rich N-terminus
NM_029274.2 → NP_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:1380 → 1522

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:2411 → 2495

FYRC; FY-rich domain, C-terminal region

smart00317
Location:2575 → 2695

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG2940
Location:2557 → 2713

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:963 → 1010

zf-CXXC; CXXC zinc finger domain

cd15589
Location:1209 → 1255

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:1257 → 1306

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:1343 → 1399

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:1587 → 1691

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

pfam05964
Location:1740 → 1786

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

30268280..30288371 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

F8WJ40

Related

ENSMUSP00000006470.8, ENSMUST00000006470.14

Conserved Domains (11) summary

cd05493
Location:1380 → 1522

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:2419 → 2503

FYRC; FY-rich domain, C-terminal region

PHA03307
Location:1814 → 2193

PHA03307; transcriptional regulator ICP4; Provisional

PHA03378
Location:483 → 702

PHA03378; EBNA-3B; Provisional

cd15589
Location:1209 → 1255

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:1257 → 1306

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:1343 → 1399

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:1587 → 1691

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

pfam02008
Location:963 → 1010

zf-CXXC; CXXC zinc finger domain

pfam05964
Location:1739 → 1786

FYRN; F/Y-rich N-terminus

cd19170
Location:2568 → 2721

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
XM_036153503.1 → XP_036009396.1 histone-lysine N-methyltransferase 2B isoform X3

UniProtKB/TrEMBL

Q8CHH1

Conserved Domains (9) summary

cd05493
Location:311 → 453

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:1351 → 1435

FYRC; FY-rich domain, C-terminal region

PHA03247
Location:729 → 1153

PHA03247; large tegument protein UL36; Provisional

cd15589
Location:140 → 186

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:188 → 237

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:274 → 330

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:518 → 622

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

cd19170
Location:1500 → 1653

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:670 → 717

FYRN; F/Y-rich N-terminus
XM_011250733.3 → XP_011249035.1 histone-lysine N-methyltransferase 2B isoform X2

UniProtKB/TrEMBL

Q8CHH1

Related

ENSMUSP00000118486.2, ENSMUST00000131002.2

Conserved Domains (9) summary

cd05493
Location:363 → 505

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:1403 → 1487

FYRC; FY-rich domain, C-terminal region

PHA03247
Location:781 → 1205

PHA03247; large tegument protein UL36; Provisional

cd15589
Location:192 → 238

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:240 → 289

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:326 → 382

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:570 → 674

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

pfam05964
Location:722 → 769

FYRN; F/Y-rich N-terminus

cd19170
Location:1552 → 1705

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
XM_036153504.1 → XP_036009397.1 histone-lysine N-methyltransferase 2B isoform X3

UniProtKB/TrEMBL

Q8CHH1

Conserved Domains (9) summary

cd05493
Location:311 → 453

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:1351 → 1435

FYRC; FY-rich domain, C-terminal region

PHA03247
Location:729 → 1153

PHA03247; large tegument protein UL36; Provisional

cd15589
Location:140 → 186

PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15591
Location:188 → 237

PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15593
Location:274 → 330

PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)

cd15694
Location:518 → 622

ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)

cd19170
Location:1500 → 1653

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:670 → 717

FYRN; F/Y-rich N-terminus