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Aliases for KMT2C Gene

Aliases for KMT2C Gene

  • Lysine Methyltransferase 2C 2 3
  • Lysine (K)-Specific Methyltransferase 2C 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 3 3 4
  • Homologous To ALR Protein 3 4
  • MLL3 3 4
  • HALR 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-4 Specific 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 3 2
  • Histone-Lysine N-Methyltransferase MLL3 3
  • Lysine N-Methyltransferase 2C 4
  • ALR-Like Protein 3
  • EC 2.1.1.43 4
  • KIAA1506 4

External Ids for KMT2C Gene

Previous HGNC Symbols for KMT2C Gene

  • MLL3

Previous GeneCards Identifiers for KMT2C Gene

  • GC07M151835

Summaries for KMT2C Gene

Entrez Gene Summary for KMT2C Gene

  • This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]

GeneCards Summary for KMT2C Gene

KMT2C (Lysine Methyltransferase 2C) is a Protein Coding gene. Diseases associated with KMT2C include myeloid/lymphoid or mixed lineage leukemia and uterine body mixed cancer. Among its related pathways are Lysine degradation and Developmental Biology. GO annotations related to this gene include poly(A) RNA binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2B.

UniProtKB/Swiss-Prot for KMT2C Gene

  • Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.

Gene Wiki entry for KMT2C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2C Gene

Genomics for KMT2C Gene

Regulatory Elements for KMT2C Gene

Promoters for KMT2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KMT2C on UCSC Golden Path with GeneCards custom track

Genomic Location for KMT2C Gene

Chromosome:
7
Start:
152,134,922 bp from pter
End:
152,436,638 bp from pter
Size:
301,717 bases
Orientation:
Minus strand

Genomic View for KMT2C Gene

Genes around KMT2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2C Gene

Proteins for KMT2C Gene

  • Protein details for KMT2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEZ4-KMT2C_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase 2C
    Protein Accession:
    Q8NEZ4
    Secondary Accessions:
    • Q8NC02
    • Q8NDF6
    • Q9H9P4
    • Q9NR13
    • Q9P222
    • Q9UDR7

    Protein attributes for KMT2C Gene

    Size:
    4911 amino acids
    Molecular mass:
    541370 Da
    Quaternary structure:
    • Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with histone H3.
    Miscellaneous:
    • Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the KMT2C gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the KMT2C gene has generated the BAGE genes.

    Three dimensional structures from OCA and Proteopedia for KMT2C Gene

    Alternative splice isoforms for KMT2C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2C Gene

Proteomics data for KMT2C Gene at MOPED

Post-translational modifications for KMT2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KMT2C Gene

Domains & Families for KMT2C Gene

Gene Families for KMT2C Gene

Suggested Antigen Peptide Sequences for KMT2C Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEZ4

UniProtKB/Swiss-Prot:

KMT2C_HUMAN :
  • The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
  • Contains 1 DHHC-type zinc finger.
Domain:
  • The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.
  • Contains 1 A.T hook DNA-binding domain.
  • Contains 1 FYR C-terminal domain.
  • Contains 1 FYR N-terminal domain.
  • Contains 1 post-SET domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Similarity:
  • Contains 1 DHHC-type zinc finger.
  • Contains 6 PHD-type zinc fingers.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with KMT2C: view

Function for KMT2C Gene

Molecular function for KMT2C Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.

Enzyme Numbers (IUBMB) for KMT2C Gene

Gene Ontology (GO) - Molecular Function for KMT2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with KMT2C: view
genes like me logo Genes that share phenotypes with KMT2C: view

Animal Models for KMT2C Gene

MGI Knock Outs for KMT2C:

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT2C Gene

Localization for KMT2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2C Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KMT2C Gene

Pathways & Interactions for KMT2C Gene

genes like me logo Genes that share pathways with KMT2C: view

Pathways by source for KMT2C Gene

Gene Ontology (GO) - Biological Process for KMT2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0034968 histone lysine methylation TAS --
genes like me logo Genes that share ontologies with KMT2C: view

No data available for SIGNOR curated interactions for KMT2C Gene

Drugs & Compounds for KMT2C Gene

(7) Drugs for KMT2C Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 47
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0

(4) ApexBio Compounds for KMT2C Gene

Compound Action Cas Number
Entacapone COMT inhibitor 130929-57-6
EPZ004777 DOT1L inhibitor 1338466-77-5
PFI-2 1627676-59-8
SGI-1027 DNMT inhibitor 1020149-73-8
genes like me logo Genes that share compounds with KMT2C: view

Transcripts for KMT2C Gene

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2C Gene

No ASD Table

Relevant External Links for KMT2C Gene

GeneLoc Exon Structure for
KMT2C
ECgene alternative splicing isoforms for
KMT2C

Expression for KMT2C Gene

mRNA expression in normal human tissues for KMT2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2C Gene

This gene is overexpressed in Plasma (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KMT2C Gene



mRNA Expression by UniProt/SwissProt for KMT2C Gene

Q8NEZ4-KMT2C_HUMAN
Tissue specificity: Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.
genes like me logo Genes that share expression patterns with KMT2C: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for KMT2C Gene

Orthologs for KMT2C Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT2C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KMT2C 35
  • 83.07 (n)
  • 84.62 (a)
KMT2C 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLL3 35
  • 87.97 (n)
  • 88.52 (a)
KMT2C 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kmt2c 35
  • 86.39 (n)
  • 85.58 (a)
Kmt2c 16
Kmt2c 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MLL3 35
  • 99.22 (n)
  • 99.07 (a)
KMT2C 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kmt2c 35
  • 83.86 (n)
  • 85.69 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2C 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLL3 35
  • 75.37 (n)
  • 75.48 (a)
KMT2C 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KMT2C 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2c 35
  • 68.32 (n)
  • 69.31 (a)
Str.11992 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18611 35
kmt2ca 35
  • 59.66 (n)
  • 57.07 (a)
kmt2ca 36
  • 51 (a)
OneToMany
kmt2cb 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lpt 36
  • 32 (a)
ManyToMany
Species with no ortholog for KMT2C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KMT2C Gene

ENSEMBL:
Gene Tree for KMT2C (if available)
TreeFam:
Gene Tree for KMT2C (if available)

Paralogs for KMT2C Gene

Paralogs for KMT2C Gene

(3) SIMAP similar genes for KMT2C Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for KMT2C Gene

genes like me logo Genes that share paralogs with KMT2C: view

Variants for KMT2C Gene

Sequence variations from dbSNP and Humsavar for KMT2C Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2838171 -, - 152,247,966(+) TGCCA(A/G/T)TTTTT nc-transcript-variant, reference, missense
VAR_036311 A colorectal cancer sample
VAR_036312 A colorectal cancer sample
VAR_036313 A colorectal cancer sample
VAR_036314 A colorectal cancer sample

Variation tolerance for KMT2C Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.43; 98.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT2C Gene

HapMap Linkage Disequilibrium report
KMT2C
Human Gene Mutation Database (HGMD)
KMT2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KMT2C Gene

Disorders for KMT2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for KMT2C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myeloid/lymphoid or mixed lineage leukemia
  • mll
uterine body mixed cancer
  • malignant mixed tumor of corpus uteri
- elite association - COSMIC cancer census association via MalaCards
Search KMT2C in MalaCards View complete list of genes associated with diseases

Relevant External Links for KMT2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2C
genes like me logo Genes that share disorders with KMT2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KMT2C Gene

Publications for KMT2C Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. Crucial roles for interactions between MLL3/4 and INI1 in nuclear receptor transactivation. (PMID: 19221051) Lee S. … Lee J.W. (Mol. Endocrinol. 2009) 3 23
  3. Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. (PMID: 12482968) Goo Y.-H. … Lee J.W. (Mol. Cell. Biol. 2003) 3 23
  4. BAGE genes generated by juxtacentromeric reshuffling in the hominidae lineage are under selective pressure. (PMID: 12676563) Ruault M. … De Sario A. (Genomics 2003) 3 23
  5. MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia. (PMID: 11891048) Ruault M. … De Sario A. (Gene 2002) 3 23

Products for KMT2C Gene

Sources for KMT2C Gene

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