SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009] See more...

Aliases for KMT5C Gene

Aliases for KMT5C Gene

  • Lysine Methyltransferase 5C 2 3 5
  • [Histone H4]-N-Methyl-L-Lysine20 N-Methyltransferase KMT5B 3 4
  • [Histone H4]-Lysine20 N-Methyltransferase KMT5B 3 4
  • Lysine (K)-Specific Methyltransferase 5C 2 3
  • Histone-Lysine N-Methyltransferase KMT5C 3 4
  • Suppressor Of Variegation 4-20 Homolog 2 3 4
  • Lysine-Specific Methyltransferase 5C 3 4
  • Lysine N-Methyltransferase 5C 3 4
  • Su(Var)4-20 Homolog 2 3 4
  • Suv4-20h2 3 4
  • SUV420H2 3 4
  • Suppressor Of Variegation 4-20 Homolog 2 (Drosophila) 2
  • Histone-Lysine N-Methyltransferase SUV420H2 3
  • EC 2.1.1.362 4
  • EC 2.1.1.361 4
  • MGC2705 2
  • KMT5C 5

External Ids for KMT5C Gene

Previous HGNC Symbols for KMT5C Gene

  • SUV420H2

Previous GeneCards Identifiers for KMT5C Gene

  • GC19P055341
  • GC19P055342
  • GC19P055464
  • GC19P055669

Summaries for KMT5C Gene

Entrez Gene Summary for KMT5C Gene

  • SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]

GeneCards Summary for KMT5C Gene

KMT5C (Lysine Methyltransferase 5C) is a Protein Coding gene. Diseases associated with KMT5C include Hyperoxaluria, Primary, Type I and Primary Hyperoxaluria. Among its related pathways are Chromatin organization and Lysine degradation. An important paralog of this gene is KMT5B.

UniProtKB/Swiss-Prot Summary for KMT5C Gene

  • Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT5C Gene

Genomics for KMT5C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KMT5C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J055337 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 274.6 +0.1 58 4.2 SP1 ZNF207 IKZF1 JUND ZNF580 ATF2 CEBPA ZNF223 ZNF10 ATF3 KMT5C ENSG00000276831 HSALNG0127644 LENG8-AS1 LENG8 ENSG00000235681 ENSG00000267523 ENSG00000267096 ZNF580 FAM71E2
GH19J055215 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 30.9 -123.1 -123148 2.9 SP1 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZNF592 ZMYM3 ATF2 ENSG00000267649 ENSG00000286230 LENG8-AS1 U2AF2 LENG8 ENSG00000235681 ENSG00000267523 SSC5D ZNF580 KMT5C
GH19J055653 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22.1 +316.7 316660 9 BCLAF1 SP1 ZNF654 ZNF207 IKZF1 MYC SIX5 ZNF580 ZNF592 ZMYM3 HSALNG0127699 U2AF2 ZNF580 ENSG00000267523 ZNF581 KMT5C ENSG00000267096 ZNF471 ZNF582 ZNF470
GH19J055633 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.1 +295.7 295680 3.2 BCLAF1 SP1 NCOR1 MYC SIX5 ZNF580 ZMYM3 ATF2 POLR2A CEBPA ZNF580 ZNF581 HSALNG0127692 LOC107983998 lnc-ZNF580-1 ENSG00000267523 KMT5C ENSG00000267096 CCDC106 HSALNG0127693
GH19J055246 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.3 -86.0 -85994 14.5 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZNF592 PPP6R1 LENG8 LENG8-AS1 ENSG00000235681 ZNF581 ENSG00000267523 ZNF628 ENSG00000267096 HSPBP1 RPL28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KMT5C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT5C

Genomic Locations for KMT5C Gene

Latest Assembly
chr19:55,339,853-55,348,121
(GRCh38/hg38)
Size:
8,269 bases
Orientation:
Plus strand

Previous Assembly
chr19:55,851,244-55,859,489
(GRCh37/hg19 by Entrez Gene)
Size:
8,246 bases
Orientation:
Plus strand

chr19:55,851,221-55,859,488
(GRCh37/hg19 by Ensembl)
Size:
8,268 bases
Orientation:
Plus strand

Genomic View for KMT5C Gene

Genes around KMT5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT5C Gene

Proteins for KMT5C Gene

  • Protein details for KMT5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y97-KMT5C_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase KMT5C
    Protein Accession:
    Q86Y97
    Secondary Accessions:
    • Q8WZ10
    • Q9BRZ6

    Protein attributes for KMT5C Gene

    Size:
    462 amino acids
    Molecular mass:
    52113 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity).
    SequenceCaution:
    • Sequence=AAH05842.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAL55766.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for KMT5C Gene

    Alternative splice isoforms for KMT5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT5C Gene

Post-translational modifications for KMT5C Gene

  • Ubiquitination at Lys122
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT5C Gene

Domains & Families for KMT5C Gene

Gene Families for KMT5C Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for KMT5C Gene

Suggested Antigen Peptide Sequences for KMT5C Gene

GenScript: Design optimal peptide antigens:
  • Suppressor of variegation 4-20 homolog 2 (SV422_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86Y97

UniProtKB/Swiss-Prot:

KMT5C_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
genes like me logo Genes that share domains with KMT5C: view

Function for KMT5C Gene

Molecular function for KMT5C Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60348, Rhea:RHEA-COMP:15555, Rhea:RHEA-COMP:15556, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929, ChEBI:CHEBI:61976; EC=2.1.1.362; Evidence={ECO:0000269|PubMed:24396869, ECO:0000269|PubMed:28114273};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:61992, Rhea:RHEA-COMP:15556, Rhea:RHEA-COMP:15998, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961, ChEBI:CHEBI:61976; Evidence={ECO:0000269|PubMed:28114273};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60344, Rhea:RHEA-COMP:15554, Rhea:RHEA-COMP:15555, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.361; Evidence={ECO:0000269|PubMed:24396869};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=21 uM for H4K20me0 {ECO:0000269|PubMed:24396869}; KM=16 uM for H4K20me1 {ECO:0000269|PubMed:24396869}; KM=0.5 uM for nucleosome {ECO:0000269|PubMed:24396869}; pH dependence: Optimum pH is 8. {ECO:0000269|PubMed:24396869};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 6,7-Dichloro-N-cyclopentyl-4-(pyridin-4-yl)phthalazin-1-amine (A-196) with an IC(50) of 144 nM.

Enzyme Numbers (IUBMB) for KMT5C Gene

Phenotypes From GWAS Catalog for KMT5C Gene

Gene Ontology (GO) - Molecular Function for KMT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 28114273
GO:0005515 protein binding IPI 19486527
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0042393 histone binding IEA --
genes like me logo Genes that share ontologies with KMT5C: view
genes like me logo Genes that share phenotypes with KMT5C: view

Animal Models for KMT5C Gene

MGI Knock Outs for KMT5C:

miRNA for KMT5C Gene

miRTarBase miRNAs that target KMT5C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT5C

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT5C Gene

Localization for KMT5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT5C Gene

Nucleus. Chromosome. Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). {ECO:0000250}.

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 KMT5C gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KMT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000779 condensed chromosome, centromeric region IEA --
GO:0000792 heterochromatin IDA 19486527
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with KMT5C: view

Pathways & Interactions for KMT5C Gene

genes like me logo Genes that share pathways with KMT5C: view

Pathways by source for KMT5C Gene

1 BioSystems pathway for KMT5C Gene
2 KEGG pathways for KMT5C Gene

Gene Ontology (GO) - Biological Process for KMT5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 28114273
GO:0006325 chromatin organization IEA --
GO:0016571 histone methylation IEA --
GO:0032259 methylation IEA --
GO:0034773 histone H4-K20 trimethylation IBA 21873635
genes like me logo Genes that share ontologies with KMT5C: view

No data available for SIGNOR curated interactions for KMT5C Gene

Drugs & Compounds for KMT5C Gene

(1) Drugs for KMT5C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for KMT5C 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
genes like me logo Genes that share compounds with KMT5C: view

Transcripts for KMT5C Gene

mRNA/cDNA for KMT5C Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT5C

Alternative Splicing Database (ASD) splice patterns (SP) for KMT5C Gene

No ASD Table

Relevant External Links for KMT5C Gene

GeneLoc Exon Structure for
KMT5C

Expression for KMT5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT5C

Evidence on tissue expression from TISSUES for KMT5C Gene

  • Skin(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with KMT5C: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT5C Gene

Orthologs for KMT5C Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT5C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUV420H2 29 30
  • 98.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUV420H2 29 30
  • 86.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUV420H2 29 30
  • 86.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Suv420h2 29 30
  • 82.03 (n)
OneToOne
Kmt5c 16
Rat
(Rattus norvegicus)
Mammalia Suv420h2 29
  • 81.81 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SUV420H2 30
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUV420H2 30
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.4508 29
Zebrafish
(Danio rerio)
Actinopterygii suv420h2 30
  • 8 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hmt4-20 30
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea set-4 30
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9369 30
  • 52 (a)
OneToMany
Species where no ortholog for KMT5C 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 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)

Evolution for KMT5C Gene

ENSEMBL:
Gene Tree for KMT5C (if available)
TreeFam:
Gene Tree for KMT5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KMT5C: view image
Alliance of Genome Resources:
Additional Orthologs for KMT5C

Paralogs for KMT5C Gene

Paralogs for KMT5C Gene

genes like me logo Genes that share paralogs with KMT5C: view

Variants for KMT5C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT5C Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs10420654 Benign: not provided 55,347,206(+) C/A
NM_032701.4(KMT5C):c.1146C>A (p.Ala382=)
SYNONYMOUS
rs142116321 Benign: not provided 55,346,308(+) C/T
NM_032701.4(KMT5C):c.666C>T (p.Phe222=)
SYNONYMOUS
rs73607029 Benign: not provided 55,347,431(+) C/T
NM_032701.4(KMT5C):c.1371C>T (p.Val457=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KMT5C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KMT5C Gene

Variant ID Type Subtype PubMed ID
esv26533 CNV loss 19812545
nsv470162 CNV loss 18288195
nsv516199 CNV loss 19592680
nsv953624 CNV deletion 24416366

Variation tolerance for KMT5C Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KMT5C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT5C
Leiden Open Variation Database (LOVD)
KMT5C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT5C Gene

Disorders for KMT5C Gene

MalaCards: The human disease database

(2) MalaCards diseases for KMT5C Gene - From: COP

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type i
  • hp1
primary hyperoxaluria
  • hyperoxaluria, primary
- elite association - COSMIC cancer census association via MalaCards
Search KMT5C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KMT5C

genes like me logo Genes that share disorders with KMT5C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KMT5C Gene

Publications for KMT5C Gene

  1. The SUV4-20 inhibitor A-196 verifies a role for epigenetics in genomic integrity. (PMID: 28114273) Bromberg KD … Pappano WN (Nature chemical biology 2017) 3 4
  2. Crystal structures of the human histone H4K20 methyltransferases SUV420H1 and SUV420H2. (PMID: 24396869) Wu H … Min J (FEBS letters 2013) 3 4
  3. The histone methyltransferase SUV420H2 and Heterochromatin Proteins HP1 interact but show different dynamic behaviours. (PMID: 19486527) Souza PP … Angrand PO (BMC cell biology 2009) 2 3
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for KMT5C Gene

Sources for KMT5C Gene