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

Gene ID: 9757, updated on 12-Sep-2021

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
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; 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
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Genomic context

See KMT2B in Genome Data Viewer
Location:
19q13.12
Exon count:
38
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35717818..35738878)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36208905..36229779)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene thymidylate synthetase pseudogene 2 Neighboring gene zinc finger and BTB domain containing 32 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dystonia 28, childhood-onset Compare labs

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone methyltransferase activity (H3-K4 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables unmethylated CpG binding IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in histone H3-K4 dimethylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in histone H3-K4 methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone H3-K4 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histone H3-K4 monomethylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of histone methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of histone methyltransferase complex IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
 

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_011525863.2
XP_011525864.1
XP_016883033.1
XP_016883034.1
XP_016883035.1

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
    5001..25862
    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
    Q9UMN6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35717818..35738878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527562.2XP_011525864.1  histone-lysine N-methyltransferase 2B isoform X2

    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
  2. XM_017027544.1XP_016883033.1  histone-lysine N-methyltransferase 2B isoform X1

  3. XM_017027545.1XP_016883034.1  histone-lysine N-methyltransferase 2B isoform X3

  4. XM_011527561.2XP_011525863.2  histone-lysine N-methyltransferase 2B isoform X3

    Related
    ENSP00000501283.1, ENST00000673918.1
  5. XM_017027546.1XP_016883035.1  histone-lysine N-methyltransferase 2B isoform X4

RNA

  1. XR_935878.2 RNA Sequence

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