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

    Gene ID: 9757, updated on 8-Jul-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35718003..35738878)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38263317..38284192)
    105.20220307 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: 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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0304

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    enables histone H3K4 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H3K4 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of MLL1/2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of histone methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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_011525863.3
    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_2023_10

    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