KMT2C Gene (Protein Coding)

Lysine Methyltransferase 2C

GC07M152134
GIFtS:
41
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 inv... See more...

Aliases for KMT2C Gene

Aliases for KMT2C Gene

  • Lysine Methyltransferase 2C 2 3 5
  • Histone-Lysine N-Methyltransferase 2C 2 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 3 3 4
  • Lysine (K)-Specific Methyltransferase 2C 2 3
  • 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 2.1.1.354 4
  • KIAA1506 4
  • KLEFS2 3

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]

CIViC Summary for KMT2C Gene

GeneCards Summary for KMT2C Gene

KMT2C (Lysine Methyltransferase 2C) is a Protein Coding gene. Diseases associated with KMT2C include Kleefstra Syndrome 2 and Kleefstra Syndrome Due To A Point Mutation. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2D.

UniProtKB/Swiss-Prot Summary for KMT2C Gene

  • Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:22266653). 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

Additional gene information for KMT2C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT2C Gene

Genomics for KMT2C Gene

GeneHancer (GH) Regulatory Elements for KMT2C Gene

Promoters and enhancers for KMT2C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KMT2C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT2C

Genomic Locations for KMT2C Gene

Genomic Locations for KMT2C Gene
chr7:152,134,922-152,436,638
(GRCh38/hg38)
Size:
301,717 bases
Orientation:
Minus strand
chr7:151,832,010-152,133,090
(GRCh37/hg19)
Size:
301,081 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 Structure • Gene Density

RefSeq DNA sequence for KMT2C Gene

Proteins for KMT2C Gene

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  • 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. Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653).
    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

Protein Expression for KMT2C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KMT2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KMT2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT2C Gene

Domains & Families for KMT2C Gene

Gene Families for KMT2C Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for KMT2C Gene

Blocks:
  • Zn-finger, RING
  • Nuclear protein SET
  • Zn-finger, DHHC type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KMT2C Gene

GenScript: Design optimal peptide antigens:
  • MLL3 protein (A7MBM6_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3_HUMAN)

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.
Domain:
  • The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
genes like me logo Genes that share domains with KMT2C: view

Function for KMT2C Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for KMT2C Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:22266653). 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60260, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.354; Evidence=. ;.

Enzyme Numbers (IUBMB) for KMT2C Gene

Phenotypes From GWAS Catalog 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:0003713 transcription coactivator activity IBA 21873635
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI,IEA 12482968
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

Human Phenotype Ontology for KMT2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KMT2C Gene

MGI Knock Outs for KMT2C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2C

No data available for Transcription Factor Targets and HOMER Transcription for KMT2C Gene

Localization for KMT2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2C Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT2C gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KMT2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17500065
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IDA 17500065
GO:0044666 MLL3/4 complex IDA 17500065
genes like me logo Genes that share ontologies with KMT2C: view

Pathways & Interactions for KMT2C Gene

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

Gene Ontology (GO) - Biological Process for KMT2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0032259 methylation IEA --
GO:0034968 histone lysine methylation IEA --
GO:0045652 regulation of megakaryocyte differentiation 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

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(6) 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 55
D-Lysine Approved, Experimental Nutra Full agonist, Agonist 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0
PFI-2 Pharma 0

(1) Additional Compounds for KMT2C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3

(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

Drug Products

Transcripts for KMT2C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KMT2C Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2C

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

No ASD Table

Relevant External Links for KMT2C Gene

GeneLoc Exon Structure for
KMT2C

Expression for KMT2C Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KMT2C Gene

mRNA expression in normal human tissues for KMT2C Gene
mRNA expression by GTEx 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, MaxQB, and MOPED for KMT2C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT2C

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.

Evidence on tissue expression from TISSUES for KMT2C Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with KMT2C: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia MLL3 30
  • 99.22 (n)
KMT2C 31
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KMT2C 31
  • 88 (a)
 OneToOne
MLL3 30
  • 87.97 (n)
mouse
(Mus musculus)
 Mammalia Kmt2c 17 31 30
  • 86.39 (n)
rat
(Rattus norvegicus)
 Mammalia Kmt2c 30
  • 83.86 (n)
cow
(Bos Taurus)
 Mammalia KMT2C 31 30
  • 83.07 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KMT2C 31
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 76 (a)
 OneToMany
-- 31
  • 76 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves MLL3 30
  • 75.37 (n)
KMT2C 31
  • 74 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KMT2C 31
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kmt2c 30
  • 68.32 (n)
Str.11992 30
zebrafish
(Danio rerio)
 Actinopterygii kmt2ca 31 30
  • 59.66 (n)
 OneToMany
kmt2cb 31
  • 47 (a)
 OneToMany
Dr.18611 30
fruit fly
(Drosophila melanogaster)
 Insecta Lpt 31
  • 32 (a)
 ManyToMany
Species where no ortholog for KMT2C was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KMT2C: view image

Paralogs for KMT2C Gene

Paralogs for KMT2C Gene

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

  • KMT2C_HUMAN
  • C9J4Z5_HUMAN
  • H0Y765_HUMAN
  • H0YMU7_HUMAN
  • H0YNL4_HUMAN
  • H7BY37_HUMAN
  • H7C212_HUMAN
  • H7C2V8_HUMAN

Pseudogenes.org Pseudogenes for KMT2C Gene

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

Variants for KMT2C Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT2C Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
635469 Likely Pathogenic: Kleefstra syndrome 2 152,195,977(-) TTCAGAAATA/T INFRAME_DELETION
667417 Pathogenic: Kleefstra syndrome due to a point mutation 152,222,037(-) GT/G FRAMESHIFT_VARIANT
694634 Uncertain Significance: Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2 152,229,938(-) G/C NONSENSE
709433 Benign: not provided 152,152,730(-) A/G SYNONYMOUS_VARIANT
715879 Benign: not provided 152,238,822(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KMT2C Gene

Structural Variations from Database of Genomic Variants (DGV) for KMT2C Gene

Variant ID Type Subtype PubMed ID
dgv1133e201 CNV deletion 23290073
dgv1147n67 CNV loss 20364138
dgv11729n54 CNV loss 21841781
dgv11730n54 CNV loss 21841781
dgv126n16 CNV deletion 17901297
dgv1338e214 CNV gain 21293372
dgv1339e214 CNV gain 21293372
dgv3695n106 OTHER inversion 24896259
dgv3699n106 CNV duplication 24896259
dgv3700n106 CNV duplication 24896259
dgv3701n106 CNV deletion 24896259
dgv3702n106 CNV duplication 24896259
dgv3703n106 CNV duplication 24896259
dgv3704n106 CNV deletion 24896259
dgv3705n106 CNV deletion 24896259
dgv3706n106 CNV deletion 24896259
dgv3995e59 CNV duplication 20981092
dgv3996e59 CNV duplication 20981092
dgv3997e59 CNV duplication 20981092
dgv3998e59 CNV duplication 20981092
dgv6758n100 CNV gain 25217958
esv21745 CNV gain+loss 19812545
esv2405364 CNV deletion 18987734
esv2441886 CNV deletion 19546169
esv2511640 CNV gain 19546169
esv2577003 CNV gain 19546169
esv26528 CNV loss 19812545
esv2658533 CNV deletion 23128226
esv2666078 CNV deletion 23128226
esv2669433 CNV deletion 23128226
esv26790 CNV gain 19812545
esv2735444 CNV deletion 23290073
esv2735445 CNV deletion 23290073
esv2735446 CNV deletion 23290073
esv2735448 CNV deletion 23290073
esv2735451 CNV deletion 23290073
esv2735452 CNV deletion 23290073
esv3382021 CNV duplication 20981092
esv3542679 CNV deletion 23714750
esv3542680 CNV deletion 23714750
esv3576482 CNV gain 25503493
esv3576484 CNV gain 25503493
esv3615500 CNV gain 21293372
esv3615501 CNV gain 21293372
esv3615502 CNV loss 21293372
esv3615505 CNV loss 21293372
esv3615506 CNV gain 21293372
nsv1017871 CNV gain 25217958
nsv1020487 CNV gain 25217958
nsv1021676 CNV gain 25217958
nsv1024517 CNV gain 25217958
nsv1029778 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1076970 CNV deletion 25765185
nsv1077502 CNV duplication 25765185
nsv1078030 CNV duplication 25765185
nsv1078031 CNV duplication 25765185
nsv1078599 CNV duplication 25765185
nsv1115029 CNV deletion 24896259
nsv1117771 CNV deletion 24896259
nsv1117772 CNV deletion 24896259
nsv1117774 CNV deletion 24896259
nsv1124286 CNV deletion 24896259
nsv1124287 CNV deletion 24896259
nsv1124289 CNV deletion 24896259
nsv1125929 CNV tandem duplication 24896259
nsv1128377 CNV deletion 24896259
nsv1128378 CNV deletion 24896259
nsv1128379 CNV deletion 24896259
nsv1132099 CNV deletion 24896259
nsv1132100 CNV deletion 24896259
nsv1132102 CNV deletion 24896259
nsv1132662 CNV duplication 24896259
nsv1137308 CNV deletion 24896259
nsv1137309 CNV deletion 24896259
nsv1140859 CNV deletion 24896259
nsv1140861 CNV deletion 24896259
nsv1151535 CNV duplication 26484159
nsv1151834 CNV duplication 26484159
nsv1151906 OTHER inversion 26484159
nsv1153812 CNV duplication 26484159
nsv436540 CNV deletion 17901297
nsv465225 CNV loss 19166990
nsv475587 CNV novel sequence insertion 20440878
nsv511999 CNV loss 21212237
nsv512000 CNV loss 21212237
nsv517255 CNV gain+loss 19592680
nsv522613 CNV loss 19592680
nsv609045 CNV gain 21841781
nsv609046 CNV gain 21841781
nsv609047 CNV loss 21841781
nsv609048 CNV gain 21841781
nsv609049 CNV loss 21841781
nsv609051 CNV loss 21841781
nsv820358 CNV duplication 20802225
nsv821192 CNV duplication 20802225
nsv821550 CNV duplication 20802225
nsv8232 CNV gain 18304495
nsv831191 CNV gain 17160897
nsv951650 CNV duplication 24416366
nsv951651 CNV duplication 24416366
nsv951652 CNV duplication 24416366
nsv951653 CNV duplication 24416366
nsv951654 CNV duplication 24416366
nsv970610 CNV duplication 23825009
nsv970613 CNV duplication 23825009
nsv970971 CNV duplication 23825009
nsv970972 CNV duplication 23825009
nsv970973 CNV duplication 23825009
nsv970974 CNV duplication 23825009
nsv970976 CNV duplication 23825009
nsv981610 CNV duplication 23825009
nsv981611 CNV duplication 23825009
nsv981684 CNV duplication 23825009

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)

Additional Variant Information for KMT2C Gene

Human Gene Mutation Database (HGMD)
KMT2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2C Gene

Disorders for KMT2C Gene

MalaCards: The human disease database

(16) MalaCards diseases for KMT2C Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kleefstra syndrome 2
  • klefs2
kleefstra syndrome due to a point mutation
alacrima, achalasia, and mental retardation syndrome
  • aamr
kleefstra syndrome
  • chromosome 9q34.3 deletion syndrome
nut midline carcinoma
  • nuclear protein in testis midline carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search KMT2C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT2C_HUMAN
  • Kleefstra syndrome 2 (KLEFS2) [MIM:617768]: A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. {ECO:0000269 PubMed:22726846, ECO:0000269 PubMed:29069077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KMT2C

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for KMT2C Gene

  1. Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. (PMID: 12482968) Goo YH … Lee JW (Molecular and cellular biology 2003) 3 4 23 54
  2. 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 4 23 54
  3. Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects. (PMID: 11718452) Tan YC … Chow VT (Cancer detection and prevention 2001) 3 4 23 54
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  5. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. (PMID: 29069077) Koemans TS … Kramer JM (PLoS genetics 2017) 3 4 54

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