U.S. flag

An official website of the United States government

KMT2B lysine methyltransferase 2B [ Homo sapiens (human) ]

Gene ID: 9757, updated on 10-Dec-2024

Summary

Official Symbol
KMT2Bprovided by HGNC
Official Full Name
lysine methyltransferase 2Bprovided by HGNC
Primary source
HGNC:HGNC:15840
See related
Ensembl:ENSG00000272333 MIM:606834; AllianceGenome:HGNC:15840
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HRX2; MLL2; MLL4; TRX2; WBP7; DYT28; MLL1B; MRD68; WBP-7; CXXC10
Summary
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 15.2), spleen (RPKM 7.9) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See KMT2B in Genome Data Viewer
Location:
19q13.12
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35718003..35738878)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38263317..38284192)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36208905..36229779)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36174493-36174994 Neighboring gene thymidylate synthetase pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14492 Neighboring gene zinc finger and BTB domain containing 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10532 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:36207458-36208017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36209137-36209694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36230671-36231301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14497 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36234871-36235031 Neighboring gene IGF like family receptor 1 Neighboring gene U2 small nuclear RNA auxiliary factor 1 like 4 Neighboring gene presenilin enhancer, gamma-secretase subunit

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-05-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-05-11)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

General gene information

Clone Names

  • KIAA0304

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in chromatin remodeling  
involved_in methylation  
involved_in positive regulation of DNA-templated transcription  
Component Evidence Code Pubs
part_of MLL1/2 complex PubMed 
part_of histone methyltransferase complex  
part_of histone methyltransferase complex  
located_in nucleoplasm  
located_in nucleus  

General protein information

Preferred Names
histone-lysine N-methyltransferase 2B
Names
WW domain binding protein 7
histone-lysine N-methyltransferase MLL4
lysine (K)-specific methyltransferase 2B
mixed lineage leukemia gene homolog 2
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4
myeloid/lymphoid or mixed-lineage leukemia protein 4
trithorax homologue 2
NP_055542.1
XP_011525863.3
XP_011525864.1
XP_047295743.1
XP_054178770.1
XP_054178771.1
XP_054178772.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_052906.1 RefSeqGene

    Range
    4985..25860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014727.3NP_055542.1  histone-lysine N-methyltransferase 2B

    See identical proteins and their annotated locations for NP_055542.1

    Status: REVIEWED

    Source sequence(s)
    AD000671, AJ007041
    Consensus CDS
    CCDS46055.1
    UniProtKB/Swiss-Prot
    O15022, O95836, Q96GP2, Q96IP3, Q9UK25, Q9UMN6, Q9Y668, Q9Y669
    UniProtKB/TrEMBL
    A0A8I5KPK0
    Related
    ENSP00000398837.2, ENST00000420124.4
    Conserved Domains (10) summary
    cd05493
    Location:13741516
    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:24132497
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:25772697
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:25592715
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    pfam02008
    Location:9581005
    zf-CXXC; CXXC zinc finger domain
    cd15589
    Location:12031249
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:12511300
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:13371393
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:15811685
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam05964
    Location:17341780
    FYRN; F/Y-rich N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35718003..35738878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439787.1XP_047295743.1  histone-lysine N-methyltransferase 2B isoform X2

    UniProtKB/TrEMBL
    A0A8I5KPK0
  2. XM_011527561.3XP_011525863.3  histone-lysine N-methyltransferase 2B isoform X3

    UniProtKB/TrEMBL
    A0A669KBI7, A0A8I5KPK0
    Related
    ENSP00000501283.1, ENST00000673918.2
  3. XM_011527562.3XP_011525864.1  histone-lysine N-methyltransferase 2B isoform X1

    UniProtKB/TrEMBL
    A0A8I5KPK0
    Conserved Domains (8) summary
    cd05493
    Location:13741516
    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:24132497
    FYRC; FY-rich domain, C-terminal region
    pfam02008
    Location:9581005
    zf-CXXC; CXXC zinc finger domain
    cd15589
    Location:12031249
    PHD1_KMT2B; PHD finger 1 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15591
    Location:12511300
    PHD2_KMT2B; PHD domain 2 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15593
    Location:13371393
    PHD3_KMT2B; PHD finger 3 found in Histone-lysine N-methyltransferase 2B (KMT2B)
    cd15694
    Location:15811685
    ePHD_KMT2B; Extended PHD finger found in histone-lysine N-methyltransferase 2B (KMT2B)
    pfam05964
    Location:17341780
    FYRN; F/Y-rich N-terminus

RNA

  1. XR_935878.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    38263317..38284192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322796.1XP_054178771.1  histone-lysine N-methyltransferase 2B isoform X2

    UniProtKB/TrEMBL
    A0A8I5KPK0
  2. XM_054322797.1XP_054178772.1  histone-lysine N-methyltransferase 2B isoform X3

    UniProtKB/TrEMBL
    A0A8I5KPK0
  3. XM_054322795.1XP_054178770.1  histone-lysine N-methyltransferase 2B isoform X1

    UniProtKB/TrEMBL
    A0A8I5KPK0

RNA

  1. XR_008485225.1 RNA Sequence

External link. Please review our privacy policy.