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

Gene ID: 9757, updated on 8-Feb-2015
Official Symbol
KMT2Bprovided by HGNC
Official Full Name
lysine (K)-specific methyltransferase 2Bprovided by HGNC
Primary source
HGNC:HGNC:15840
See related
Ensembl:ENSG00000272333; HPRD:06017; MIM:606834; Vega:OTTHUMG00000048119
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; 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]
Orthologs
See KMT2B in MapViewer
Location:
19q13.1
Exon count:
38
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (35718019..35738878)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36208921..36229781)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene UPK1A antisense RNA 1 Neighboring gene uroplakin 1A 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
chromatin-mediated maintenance of transcription NAS
Non-traceable Author Statement
more info
PubMed 
gene silencing IEA
Inferred from Electronic Annotation
more info
 
histone H3-K4 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H3-K4 trimethylation IEA
Inferred from Electronic Annotation
more info
 
oocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
ovulation IEA
Inferred from Electronic Annotation
more info
 
regulation of histone H3-K4 methylation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
histone methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
histone-lysine N-methyltransferase 2B
Names
histone-lysine N-methyltransferase 2B
WW domain binding protein 7
histone-lysine N-methyltransferase MLL4
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

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_014727.2NP_055542.1  histone-lysine N-methyltransferase 2B

    See proteins identical to NP_055542.1

    Status: REVIEWED

    Source sequence(s)
    AJ007041, BM967067
    Consensus CDS
    CCDS46055.1
    UniProtKB/Swiss-Prot
    Q9UMN6
    Related
    ENSP00000398837, OTTHUMP00000276127, ENST00000420124, OTTHUMT00000109493
    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
    smart00317
    Location:25772697
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:25592715
    COG2940; Proteins containing SET domain [General function prediction only]
    pfam00628
    Location:13371393
    PHD; PHD-finger
    pfam02008
    Location:9581005
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:17321782
    FYRN; F/Y-rich N-terminus
    pfam13771
    Location:16081686
    zf-HC5HC2H; PHD-like zinc-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38 Primary Assembly

    Range
    35718019..35738878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723513.1XP_006723576.1  

    Conserved Domains (5) 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 ...
    pfam00628
    Location:13371393
    PHD; PHD-finger
    pfam02008
    Location:9581005
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:17321782
    FYRN; F/Y-rich N-terminus
    pfam13771
    Location:16081686
    zf-HC5HC2H; PHD-like zinc-binding domain
  2. XM_006723514.1XP_006723577.1  

    Conserved Domains (8) summary
    cd05493
    Location:610752
    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:16491733
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:18131933
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:17951951
    COG2940; Proteins containing SET domain [General function prediction only]
    pfam00628
    Location:573629
    PHD; PHD-finger
    pfam02008
    Location:190237
    zf-CXXC; CXXC zinc finger domain
    pfam05964
    Location:9681018
    FYRN; F/Y-rich N-terminus
    pfam13771
    Location:844922
    zf-HC5HC2H; PHD-like zinc-binding domain
  3. XM_006723515.1XP_006723578.1  

    Conserved Domains (6) summary
    smart00542
    Location:775859
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:9391059
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    smart00508
    Location:10611077
    PostSET; Cysteine-rich motif following a subset of SET domains
    COG2940
    Location:9211077
    COG2940; Proteins containing SET domain [General function prediction only]
    pfam05964
    Location:94144
    FYRN; F/Y-rich N-terminus
    pfam13771
    Location:148
    zf-HC5HC2H; PHD-like zinc-binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    36210261..36231101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 Alternate HuRef

    Range
    32713511..32734772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)