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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
- Entrez Gene: 58508
- Ensembl: ENSG00000055609
- OMIM: 606833
- UniProtKB: 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 Developmental Biology and PKMTs methylate histone lysines. 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. 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.
Additional gene information for KMT2C Gene
- Monarch Initiative
- Search for KMT2C at DataMed
- Search for KMT2C at HumanCyc
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
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:
-
- 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.
- 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_011514758.1
- XP_005250082.1
- XP_016867978.1
- NP_733751.2
- XP_016867975.1
- XP_005250088.1
- XP_016867976.1
- XP_006716142.1
- XP_016867973.1
- XP_006716141.1
- XP_005250085.1
- XP_005250083.1
- XP_016867974.1
- XP_016867971.1
- XP_011514752.1
- XP_024302621.1
- XP_016867972.1
- XP_011514754.1
- XP_016867979.1
- XP_016867969.1
- XP_011514753.1
- XP_016867977.1
- XP_016867970.1
- XP_024302620.1
- XP_006716140.1
- XP_011514756.1
- XP_011514755.1
- XP_005250084.1
Antibody Products
- Atlas Antibodies Anti-KMT2C Antibody
- Creative Diagnostics Anti-KMT2C polyclonal antibody
- 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
Protein Products
- Atlas Antibodies PrEST Antigen KMT2C
- Creative Diagnostics Human KMT2C peptide
-
OriGene Purified Proteins for KMT2C
- Search Origene for MassSpec and Protein Over-expression Lysates for KMT2C
- Origene Custom Protein Services for KMT2C
- antibodies-online: Search results for available MLL3 related products ranked by validation data
-
Abcam proteins for KMT2C
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
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for KMT2C Gene
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. 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=L-lysyl-[histone] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl-[histone] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:10024, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:9846, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.43; Evidence=. ;.
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 | 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 shRNA abundance (Z-score < -2)
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Increased Nanog expression
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased IL-8 secretion
Animal Models for KMT2C Gene
- MGI Knock Outs for KMT2C:
-
- Kmt2c Kmt2c<tm1.1Jwle>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for KMT2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2C
- genomics-online: gRNA clones - Search results for available MLL3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for KMT2C - Select products 50% OFF >
- * KMT2C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * KMT2C CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2C
miRNA for KMT2C Gene
- miRTarBase miRNAs that target KMT2C
-
- 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
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available MLL3 gene related products
Clone Products
-
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
- genomics-online: cdna clones - Search results for available MLL3 gene related products
- orf clones - Search results for available MLL3 gene related products
- Applied Biological Materials (abm): Clones for KMT2C - Select products 50% OFF >
- * KMT2C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * KMT2C tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
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 |
| cytosol | 2 |
- Nucleoplasm (3)
| 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 |
Pathways & Interactions for KMT2C Gene
Pathways by source for KMT2C Gene
2 BioSystems pathways for KMT2C Gene
1 KEGG pathway 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:0034968 | histone lysine methylation | IEA | -- |
| GO:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
No data available for SIGNOR curated interactions for KMT2C Gene
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 | ||
| D-Lysine | Approved, Experimental | Nutra | Full agonist, Agonist | 0 | ||
| 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 |
Drug Products
- Atlas Antibodies PrEST Antigen KMT2C
- Creative Diagnostics Human KMT2C peptide
- ApexBio compounds for KMT2C
Transcripts for KMT2C Gene
mRNA/cDNA for KMT2C Gene
- (2) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (366) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000360104 11186 bps (ENST00000360104.7)
- ENST00000558084 16862 bps (ENST00000558084.5)
- ENST00000262189 16860 bps (ENST00000262189.10)
- ENST00000424877 5874 bps (ENST00000424877.5)
- ENST00000473186 12854 bps (ENST00000473186.5)
CRISPR Products
-
OriGene CRISPR knockouts for KMT2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2C
- genomics-online: gRNA clones - Search results for available MLL3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for KMT2C - Select products 50% OFF >
- * KMT2C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * KMT2C CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2C
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available MLL3 gene related products
Clone Products
-
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
- genomics-online: cdna clones - Search results for available MLL3 gene related products
- orf clones - Search results for available MLL3 gene related products
- Applied Biological Materials (abm): Clones for KMT2C - Select products 50% OFF >
- * KMT2C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * KMT2C tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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
NURSA nuclear receptor signaling pathways regulating expression of KMT2C Gene:
KMT2CmRNA 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)
Primer Products
-
OriGene qPCR primer pairs for KMT2C
- genomics-online: primer clones - Search results for available MLL3 gene related products
Gene Expression Assay Products
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 32 |
|
||
| KMT2C 33 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | KMT2C 33 |
|
OneToOne | |
| MLL3 32 |
|
||||
| mouse (Mus musculus) |
Mammalia | Kmt2c 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kmt2c 32 |
|
||
| cow (Bos Taurus) |
Mammalia | KMT2C 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2C 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | MLL3 32 |
|
||
| KMT2C 33 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | KMT2C 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kmt2c 32 |
|
||
| Str.11992 32 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | kmt2ca 33 32 |
|
OneToMany | |
| kmt2cb 33 |
|
OneToMany | |||
| Dr.18611 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Lpt 33 |
|
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
Variants for KMT2C Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1249758583 | uncertain-significance, Intellectual disability | 152,205,150(-) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs13231116 | not-provided, not specified, - | 152,180,042(-) | G/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs138845109 | not-provided, uncertain-significance, not specified, atypical cerebral palsy | 152,176,951(-) | T/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1554477105 | pathogenic, KLEEFSTRA SYNDROME 2 | 152,162,762(-) | TTTCTTT/TTT | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1554496813 | likely-pathogenic, KLEEFSTRA SYNDROME 2 | 152,177,840(-) | GG/GGG | coding_sequence_variant, frameshift, non_coding_transcript_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2C Gene
Disorders for KMT2C Gene
(6) MalaCards diseases for KMT2C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kleefstra syndrome 2 |
|
|
| kleefstra syndrome due to a point mutation |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| kleefstra syndrome |
|
|
| nut midline carcinoma |
|
|
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
No data available for Genatlas for KMT2C Gene
Publications for KMT2C Gene
- 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 56
- 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 56
- 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 56
- 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 56
- 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 56
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