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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
External Ids for KMT2C Gene
- HGNC: 13726
- NCBI Entrez Gene: 58508
- Ensembl: ENSG00000055609
- OMIM®: 606833
- UniProtKB/Swiss-Prot: Q8NEZ4
Previous HGNC Symbols for KMT2C Gene
- MLL3
Previous GeneCards Identifiers for KMT2C Gene
- GC07M151835
Summaries 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 Kleefstra Syndrome 2 and Kleefstra Syndrome Due To A Point Mutation. Among its related pathways are Chromatin organization and Pathways Affected in Adenoid Cystic Carcinoma. 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.
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT2C
Genomic Locations for KMT2C Gene
Latest Assembly
- chr7:152,134,922-152,436,642
- (GRCh38/hg38)
- Size:
- 301,721 bases
- Orientation:
- Minus strand
Previous Assembly
- chr7:151,832,010-152,133,088
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 301,079 bases
- Orientation:
- Minus strand
Genomic View for KMT2C Gene
Genes around KMT2C on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q36.1 by HGNC
- 7q36.1 by Entrez Gene
- 7q36.1 by Ensembl
KMT2C Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- SequenceCaution:
-
- Sequence=AAF74766.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
- 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
Protein Expression for KMT2C Gene
Post-translational modifications for KMT2C Gene
Other Protein References for KMT2C Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005250082.1
- XP_005250083.1
- XP_005250084.1
- XP_005250085.1
- XP_005250088.1
- XP_006716140.1
- XP_006716141.1
- XP_006716142.1
- XP_011514752.1
- XP_011514753.1
- XP_011514754.1
- XP_011514755.1
- XP_011514756.1
- XP_011514758.1
- XP_016867969.1
- XP_016867970.1
- XP_016867971.1
- XP_016867972.1
- XP_016867973.1
- XP_016867974.1
- XP_016867975.1
- XP_016867976.1
- XP_016867977.1
- XP_016867978.1
- XP_016867979.1
- XP_024302620.1
- XP_024302621.1
- NP_733751.2
Antibodies for research
- Novus Biologicals Antibodies for KMT2C
-
Abcam antibodies for KMT2C
- Invitrogen Antibodies for KMT2C (AFLGC-KMT2C)
- antibodies-online: Show 14 available MLL3 Antibodies ranked by validation data
-
Biorbyt antibodies for KMT2C
-
Custom Antibody ServicesProSci Antibodies for KMT2C
-
Santa Cruz Biotechnology (SCBT) Antibodies for KMT2C
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KMT2C
- Origene Custom Protein Services for KMT2C
- Novus Biologicals proteins for KMT2C
- antibodies-online: Search results for available MLL3 related products ranked by validation data
-
Abcam proteins for KMT2C
Assay products for research
- antibodies-online: Search results for available MLL3 related products ranked by validation data
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
- InterPro:
- Blocks:
-
- Zn-finger, RING
- Nuclear protein SET
- Zn-finger, DHHC type
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
Q8NEZ4UniProtKB/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.
Function for KMT2C Gene
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={ECO:0000269|PubMed:17500065};.
Enzyme Numbers (IUBMB) for KMT2C Gene
Phenotypes From GWAS Catalog 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 | IEA,IPI | 12482968 |
| GO:0008168 | methyltransferase activity | IEA | -- |
Phenotypes for KMT2C Gene
- MGI mutant phenotypes for KMT2C:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KMT2C:
-
- Decreased viability
- no effect
- Decreased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased IL-8 secretion
- Effect on mitosis
- Decreased viability in colon lineage
- Increased shRNA abundance (Z-score > 2)
- Increased Nanog expression
- Decreased shRNA abundance (Z-score < -2)
Animal Models for KMT2C Gene
- MGI Knock Outs for KMT2C:
-
- Kmt2c Kmt2c<tm1.1Jwle>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KMT2C - Starting at $85 >
- * KMT2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KMT2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2C
miRNA for KMT2C Gene
- miRTarBase miRNAs that target KMT2C
-
- mmu-miR-541-5p (MIRT008336)
- mmu-miR-15a-5p (MIRT011948)
- mmu-miR-181a-5p (MIRT014430)
- hsa-miR-335-5p (MIRT016990)
- hsa-miR-128-3p (MIRT021900)
- hsa-miR-26b-5p (MIRT028951)
- hsa-miR-940 (MIRT036615)
- hsa-miR-708-5p (MIRT037748)
- hsa-miR-106b-3p (MIRT038581)
- hsa-miR-652-3p (MIRT039471)
- hsa-miR-615-3p (MIRT040134)
- hsa-miR-484 (MIRT041865)
- hsa-miR-320a (MIRT044506)
- hsa-miR-186-5p (MIRT045225)
- hsa-miR-15b-5p (MIRT046443)
- hsa-miR-196a-5p (MIRT048165)
- hsa-miR-610 (MIRT239677)
- hsa-miR-93-3p (MIRT536429)
- hsa-miR-4663 (MIRT536430)
- hsa-miR-4632-3p (MIRT536431)
- hsa-miR-6746-3p (MIRT536432)
- hsa-miR-27b-3p (MIRT727182)
- hsa-miR-27a-3p (MIRT727183)
- hsa-miR-934 (MIRT734915)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2C
- Browse OriGene Inhibitory RNA Products For KMT2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2C
Clone products for research
- Applied Biological Materials (abm): Clones for KMT2C - Starting at $45 >
- * KMT2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
OriGene ORF clones in human for KMT2C
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2C
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 17500065 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0035097 | histone methyltransferase complex | IDA | 17500065 |
| GO:0044666 | MLL3/4 complex | IEA,IDA | 17500065 |
Pathways & Interactions for KMT2C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 2 | Chromatin organization | ||
| 3 | PKMTs methylate histone lysines | ||
| 4 | Lysine degradation | ||
| 5 | Metabolism | ||
Pathways by source for KMT2C Gene
2 BioSystems pathways for KMT2C Gene
2 KEGG pathways for KMT2C Gene
1 GeneTex pathway for KMT2C Gene
Interacting Proteins for KMT2C Gene
Selected Interacting proteins:
Q8NEZ4-KMT2C_HUMAN
ENSP00000262189
for KMT2C Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KMT2C
| 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:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
Drugs & Compounds for KMT2C Gene
| 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 | ||
| Lysine | Approved | Nutra | 187 | |||
| s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
| EPZ004777 | Pharma | DOT1L inhibitor | 0 | |||
| PFI-2 | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
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 |
Transcripts for KMT2C Gene
mRNA/cDNA for KMT2C Gene
- 2 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262189 16860 nts (view in UCSC)
- ENST00000360104 14292 nts (view in UCSC)
- ENST00000418061 7285 nts (view in UCSC)
- ENST00000418673 1531 nts (view in UCSC)
- ENST00000424877 7203 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KMT2C - Starting at $85 >
- * KMT2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KMT2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2C
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2C
- Browse OriGene Inhibitory RNA Products For KMT2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2C
Clone products for research
- Applied Biological Materials (abm): Clones for KMT2C - Starting at $45 >
- * KMT2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
OriGene ORF clones in human for KMT2C
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2C
Relevant External Links for KMT2C Gene
- GeneLoc Exon Structure for
- KMT2C
Expression for KMT2C Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Outflow Tract
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Limb (Muscoskeletal System)
- Limb Bud Mesenchyme Cells Limb Bud
-
Mesoderm (Gastrulation Derivatives)
- Limb Bud Mesenchyme Cells Limb Bud
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)
- Intestine(2.8)
- Skin(2.6)
- Muscle(2.6)
- Lung(2.5)
- Kidney(2.5)
- Blood(2.5)
- Spleen(2.3)
- Heart(2.3)
- Bone marrow(2.2)
- Stomach(2.2)
- Lymph node(2.2)
Primer products for research
-
OriGene qPCR primer pairs for KMT2C
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MLL3 29 |
|
||
| KMT2C 30 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | KMT2C 30 |
|
OneToOne | |
| MLL3 29 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Kmt2c 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kmt2c 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | KMT2C 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2C 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | MLL3 29 |
|
||
| KMT2C 30 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | KMT2C 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kmt2c 29 |
|
||
| Str.11992 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | kmt2ca 29 30 |
|
OneToMany | |
| kmt2cb 30 |
|
OneToMany | |||
| Dr.18611 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Lpt 30 |
|
ManyToMany |
- Species where no ortholog for KMT2C was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
- Alliance of Genome Resources:
- Additional Orthologs for KMT2C
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
Variants for KMT2C Gene
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 |
|---|---|---|---|---|---|
| 1011828 | Uncertain Significance: not provided | 152,163,318(-) |
T/C NM_170606.3(KMT2C):c.10259A>G (p.Asp3420Gly) |
MISSENSE | |
| 1012583 | Uncertain Significance: not provided | 152,180,883(-) |
G/C NM_170606.3(KMT2C):c.6977C>G (p.Pro2326Arg) |
MISSENSE | |
| 1012584 | Likely Benign: not provided | 152,205,128(-) |
C/T NM_170606.3(KMT2C):c.3939G>A (p.Glu1313=) |
SYNONYMOUS | |
| 1012585 | Likely Benign: not provided | 152,224,429(-) |
G/C NM_170606.3(KMT2C):c.3158+6C>G |
INTRON | |
| 1012586 | Likely Benign: not provided | 152,248,196(-) |
C/T NM_170606.3(KMT2C):c.2238G>A (p.Glu746=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2C Gene
Disorders for KMT2C Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kleefstra syndrome 2 |
|
|
| kleefstra syndrome due to a point mutation |
|
|
| kleefstra syndrome 1 |
|
|
| agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
|
|
| disease of mental health |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for KMT2C
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KMT2C Gene
Publications for KMT2C Gene
- 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 72
- 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 22
- 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 22
- 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 22
- 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
ExternalLinks
Products for KMT2C Gene
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- antibodies-online: Show 14 available MLL3 Antibodies ranked by validation data
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- Biorbyt antibodies for KMT2C
Sources for KMT2C Gene
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