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KMT2E lysine methyltransferase 2E (inactive) [ Homo sapiens (human) ]

Gene ID: 55904, updated on 11-Apr-2024

Summary

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Official Symbol
KMT2Eprovided by HGNC
Official Full Name
lysine methyltransferase 2E (inactive)provided by HGNC
Primary source
HGNC:HGNC:18541
See related
Ensembl:ENSG00000005483 MIM:608444; AllianceGenome:HGNC:18541
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
MLL5; NKp44L; ODLURO; SETD5B; HDCMC04P
Summary
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105014205..105115019)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106328912..106429704)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (104654652..104755466)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:104627453-104627954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:104627955-104628454 Neighboring gene long intergenic non-protein coding RNA 1004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:104652040-104652580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:104653661-104654200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18512 Neighboring gene KMT2E antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18514 Neighboring gene uncharacterized LOC124901717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18515 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:104782308-104782484 Neighboring gene SRSF protein kinase 2 Neighboring gene uncharacterized LOC124901718

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Velmans C, et al. J Med Genet, 2022 Jul. PMID 34321323, Free PMC Article
  2. MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. Pereira-Martins DA, et al. Cell Death Dis, 2021 Apr 6. PMID 33824267, Free PMC Article
  3. Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review. Li Y, et al. Front Pediatr, 2021. PMID 33681112, Free PMC Article
  4. Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. Sharawat IK, et al. Neuropediatrics, 2021 Apr. PMID 33111303
  5. ODLURO syndrome: personal experience and review of the literature. Conforti R, et al. Radiol Med, 2021 Feb. PMID 32691224

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.
    Title: Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.
  2. MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
    Title: MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
  3. MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.
    Title: MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.
  4. ODLURO syndrome: personal experience and review of the literature.
    Title: ODLURO syndrome: personal experience and review of the literature.
  5. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
    Title: Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
  6. In the duloxetine-treated subsample (N=186), we observed suggestive associations with ZNF385D (rs4261893; beta=-0.46, P=1.55 x 10(-5)), NCAM1 (rs2303377; beta=0.45, P=1.76 x 10(-5)) and MLL5 (rs117986340; beta=0.91, P=3.04 x 10(-5)).
    Title: Genome-wide association studies of placebo and duloxetine response in major depressive disorder.
  7. three dimensional structure of MLL5 SET domain unveils the structural basis for its lack of methyltransferase activity
    Title: The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity.
  8. MLL5 preserves spindle bipolarity through maintaining cytosolic PLK1 in a nonaggregated form.
    Title: MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.
  9. MLL5 interacts with OGT and USP7 to form a stable ternary complex. Upregulation of MLL5 expression was correlated with increased expression of OGT and USP7 in human primary cervical adenocarcinomas.
    Title: Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7).
  10. Suggest a role for MLL5 and H3.3 in maintaining self-renewal hierarchies in adult glioblastomas.
    Title: MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
O'Donnell-Luria-Rodan syndrome
MedGen: C5193138 OMIM: 618512 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-12-29)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-29)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A linear peptide corresponding to amino-acid residues 102-107 of HIV-1 gp41 induces the expression of NK-p44 ligand in natural killer (NK) cells PubMed
env HIV-1 gp41 mutants W614A, S615A, N616A, and S618A downregulates the cellular surface expression of NKp44L on CD4+ T cells PubMed
env Antibodies raised against a 3S motif (residues 609-623) of HIV-1 gp41 from HIV-infected patients inhibit NKp44L expression and CD4 sensitivity to NK lysis PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10078, FLJ14026, MGC70452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT enables histone H3 methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylated histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables methylated histone binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in epigenetic regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neutrophil activation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neutrophil mediated immunity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Rpd3L-Expanded complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Set3 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of euchromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
inactive histone-lysine N-methyltransferase 2E
Names
histone-lysine N-methyltransferase 2E
histone-lysine N-methyltransferase MLL5
inactive lysine N-methyltransferase 2E
lysine (K)-specific methyltransferase 2E
myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
myeloid/lymphoid or mixed-lineage leukemia protein 5
NP_001397837.1
NP_061152.3
NP_891847.1
XP_005250550.1
XP_011514702.1
XP_047276568.1
XP_047276569.1
XP_054214620.1
XP_054214621.1
XP_054214622.1
XP_054214623.1

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.

Genomic

  1. NG_033949.1 RefSeqGene

    Range
    5016..105830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1404

mRNA and Protein(s)

  1. NM_001410908.1 → NP_001397837.1  inactive histone-lysine N-methyltransferase 2E isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005065, AC005070, AC007384
    Consensus CDS
    CCDS94170.1
    Related
    ENSP00000417156.2, ENST00000473063.2

  2. NM_018682.4 → NP_061152.3  inactive histone-lysine N-methyltransferase 2E isoform a

    See identical proteins and their annotated locations for NP_061152.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005070, AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
    Conserved Domains (6) summary
    PTZ00449
    Location:1310 → 1502
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PHA03247
    Location:1741 → 1846
    PHA03247; large tegument protein UL36; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:1463 → 1829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
    pfam13868
    Location:561 → 669
    TPH; Trichohyalin-plectin-homology domain

  3. NM_182931.3 → NP_891847.1  inactive histone-lysine N-methyltransferase 2E isoform a

    See identical proteins and their annotated locations for NP_891847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005070, AF519459, AY147037
    Consensus CDS
    CCDS34723.1
    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
    Related
    ENSP00000312379.3, ENST00000311117.8
    Conserved Domains (6) summary
    PTZ00449
    Location:1310 → 1502
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PHA03247
    Location:1741 → 1846
    PHA03247; large tegument protein UL36; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:1463 → 1829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
    pfam13868
    Location:561 → 669
    TPH; Trichohyalin-plectin-homology domain

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    105014205..105115019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516400.3 → XP_011514702.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    See identical proteins and their annotated locations for XP_011514702.1

    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
    Conserved Domains (6) summary
    PTZ00449
    Location:1310 → 1502
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PHA03247
    Location:1741 → 1846
    PHA03247; large tegument protein UL36; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:1463 → 1829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
    pfam13868
    Location:561 → 669
    TPH; Trichohyalin-plectin-homology domain

  2. XM_005250493.2 → XP_005250550.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    See identical proteins and their annotated locations for XP_005250550.1

    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
    Conserved Domains (6) summary
    PTZ00449
    Location:1310 → 1502
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PHA03247
    Location:1741 → 1846
    PHA03247; large tegument protein UL36; Provisional
    cd15550
    Location:120 → 163
    PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
    pfam09606
    Location:1463 → 1829
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd19182
    Location:323 → 451
    SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
    pfam13868
    Location:561 → 669
    TPH; Trichohyalin-plectin-homology domain

  3. XM_047420613.1 → XP_047276569.1  inactive histone-lysine N-methyltransferase 2E isoform X3

    Related
    ENSP00000419525.2, ENST00000478079.2

  4. XM_047420612.1 → XP_047276568.1  inactive histone-lysine N-methyltransferase 2E isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    106328912..106429704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358646.1 → XP_054214621.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7

  2. XM_054358645.1 → XP_054214620.1  inactive histone-lysine N-methyltransferase 2E isoform X1

    UniProtKB/Swiss-Prot
    B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7

  3. XM_054358648.1 → XP_054214623.1  inactive histone-lysine N-methyltransferase 2E isoform X3

  4. XM_054358647.1 → XP_054214622.1  inactive histone-lysine N-methyltransferase 2E isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032187.1: Suppressed sequence

    Description
    NM_032187.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZD2.1 GenPept UniProtKB/Swiss-Prot:Q8IZD2

Gene LinkOut

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