This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been ... See more...

Aliases for KMT5B Gene

Aliases for KMT5B Gene

  • Lysine Methyltransferase 5B 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 5B 2 3
  • Histone-Lysine N-Methyltransferase KMT5B 3 4
  • Suppressor Of Variegation 4-20 Homolog 1 3 4
  • Lysine-Specific Methyltransferase 5B 3 4
  • Lysine N-Methyltransferase 5B 3 4
  • Su(Var)4-20 Homolog 1 3 4
  • SUV420H1 3 4
  • CGI-85 2 3
  • Suppressor Of Variegation 4-20 Homolog 1 (Drosophila) 2
  • Histone-Lysine N-Methyltransferase SUV420H1 3
  • EC 2.1.1.362 4
  • EC 2.1.1.361 4
  • Suv4-20h1 4
  • CGI85 3
  • MRD51 3
  • KMT5B 5

External Ids for KMT5B Gene

Previous HGNC Symbols for KMT5B Gene

  • SUV420H1

Previous GeneCards Identifiers for KMT5B Gene

  • GC11M068155

Summaries for KMT5B Gene

Entrez Gene Summary for KMT5B Gene

  • This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for KMT5B Gene

KMT5B (Lysine Methyltransferase 5B) is a Protein Coding gene. Diseases associated with KMT5B include Mental Retardation, Autosomal Dominant 51 and Autism Spectrum Disorder. Among its related pathways are Chromatin organization and Lysine degradation. An important paralog of this gene is KMT5C.

UniProtKB/Swiss-Prot Summary for KMT5B 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. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 (PubMed:23720823). 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).

Gene Wiki entry for KMT5B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT5B Gene

Genomics for KMT5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KMT5B 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 KMT5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT5B

Genomic Locations for KMT5B Gene

Latest Assembly
chr11:68,154,863-68,213,899
(GRCh38/hg38)
Size:
59,037 bases
Orientation:
Minus strand

Previous Assembly
chr11:67,922,330-67,981,115
(GRCh37/hg19 by Entrez Gene)
Size:
58,786 bases
Orientation:
Minus strand

chr11:67,922,330-67,981,295
(GRCh37/hg19 by Ensembl)
Size:
58,966 bases
Orientation:
Minus strand

Genomic View for KMT5B Gene

Genes around KMT5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT5B Gene

Proteins for KMT5B Gene

  • Protein details for KMT5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4FZB7-KMT5B_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase KMT5B
    Protein Accession:
    Q4FZB7
    Secondary Accessions:
    • A0A0A0MT19
    • B7WNX7
    • Q3SX56
    • Q4V775
    • Q6P150
    • Q96E44
    • Q9BUL0
    • Q9H022
    • Q9H2K3
    • Q9NXV3
    • Q9Y393

    Protein attributes for KMT5B Gene

    Size:
    885 amino acids
    Molecular mass:
    99188 Da
    Quaternary structure:
    • Homodimer (PubMed:24396869, Ref.14). Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity). Interacts (via C-terminus) with FRG1.
    SequenceCaution:
    • Sequence=AAD34080.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAG36937.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH98121.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI04484.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA90905.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KMT5B Gene

    Alternative splice isoforms for KMT5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT5B Gene

Post-translational modifications for KMT5B Gene

  • Glycosylation at Asn711
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KMT5B_HUMAN (2047)

No data available for DME Specific Peptides for KMT5B Gene

Domains & Families for KMT5B Gene

Gene Families for KMT5B Gene

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

Protein Domains for KMT5B Gene

Suggested Antigen Peptide Sequences for KMT5B Gene

GenScript: Design optimal peptide antigens:
  • Suppressor of variegation 4-20 homolog 1 (SV421_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4FZB7

UniProtKB/Swiss-Prot:

KMT5B_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 KMT5B: view

Function for KMT5B Gene

Molecular function for KMT5B 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. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 (PubMed:23720823). 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 Induction:
Strongly down-regulated in breast cancer cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.4 uM for H4K20me0 {ECO:0000269|PubMed:24396869}; KM=1.7 uM for H4K20me1 {ECO:0000269|PubMed:24396869}; KM=0.3 uM for nucleosome {ECO:0000269|PubMed:24396869}; pH dependence: Optimum pH is 8. {ECO:0000269|Ref.14};
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 25 nM. A-196 is competitive with the histone peptide substrate H4K20me1 but non competitive with S-adenosyl-L-methionine.

Enzyme Numbers (IUBMB) for KMT5B Gene

Phenotypes From GWAS Catalog for KMT5B Gene

Gene Ontology (GO) - Molecular Function for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 28114273
GO:0005515 protein binding IPI 32296183
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity IDA 17707234
genes like me logo Genes that share ontologies with KMT5B: view
genes like me logo Genes that share phenotypes with KMT5B: view

Human Phenotype Ontology for KMT5B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KMT5B Gene

MGI Knock Outs for KMT5B:
  • Kmt5b Kmt5b<tm1.1Jnw>
  • Kmt5b Kmt5b<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT5B

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for KMT5B Gene

Localization for KMT5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT5B 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 KMT5B gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000779 condensed chromosome, centromeric region IEA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with KMT5B: view

Pathways & Interactions for KMT5B Gene

genes like me logo Genes that share pathways with KMT5B: view

Pathways by source for KMT5B Gene

Gene Ontology (GO) - Biological Process for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 28114273
GO:0006325 chromatin organization IEA --
GO:0007517 muscle organ development IEA --
GO:0016571 histone methylation IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with KMT5B: view

No data available for SIGNOR curated interactions for KMT5B Gene

Drugs & Compounds for KMT5B Gene

(1) Drugs for KMT5B Gene - From: HMDB

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

(1) Additional Compounds for KMT5B 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 KMT5B: view

Transcripts for KMT5B Gene

mRNA/cDNA for KMT5B Gene

16 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
15 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 KMT5B

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for KMT5B Gene

No ASD Table

Relevant External Links for KMT5B Gene

GeneLoc Exon Structure for
KMT5B

Expression for KMT5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT5B

Evidence on tissue expression from TISSUES for KMT5B Gene

  • Intestine(4.4)
  • Nervous system(3.9)
  • Skin(2.2)
  • Kidney(2.1)
  • Liver(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with KMT5B: view

Primer products for research

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 KMT5B Gene

Orthologs for KMT5B Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUV420H1 29 30
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUV420H1 29 30
  • 95.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUV420H1 29 30
  • 88.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Suv420h1 29
  • 86.3 (n)
Mouse
(Mus musculus)
Mammalia Suv420h1 29 30
  • 85.42 (n)
OneToOne
Kmt5b 16
Platypus
(Ornithorhynchus anatinus)
Mammalia SUV420H1 30
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUV420H1 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUV420H1 29 30
  • 80.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUV420H1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia suv420h1 29
  • 72.79 (n)
Str.16943 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1754 29
Zebrafish
(Danio rerio)
Actinopterygii suv420h1 29 30
  • 60.24 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hmt4-20 30
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea set-4 29 30
  • 50.96 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9369 30
  • 60 (a)
OneToMany
Species where no ortholog for KMT5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 KMT5B Gene

ENSEMBL:
Gene Tree for KMT5B (if available)
TreeFam:
Gene Tree for KMT5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KMT5B: view image
Alliance of Genome Resources:
Additional Orthologs for KMT5B

Paralogs for KMT5B Gene

Paralogs for KMT5B Gene

genes like me logo Genes that share paralogs with KMT5B: view

Variants for KMT5B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT5B Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1012804 Likely Benign: not provided 68,159,107(-) T/C
NM_017635.5(KMT5B):c.1239A>G (p.Gln413=)
SYNONYMOUS
1022077 Uncertain Significance: not provided 68,175,064(-) T/C
NM_017635.5(KMT5B):c.497A>G (p.Tyr166Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
1033434 Uncertain Significance: Intellectual disability, autosomal dominant 51 68,158,730(-) C/T
NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln)
MISSENSE
1033435 Uncertain Significance: Intellectual disability, autosomal dominant 51 68,157,829(-) ATCC/A
NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del)
INFRAME_DELETION
872446 Uncertain Significance: not provided 68,158,392(-) G/C
NM_017635.5(KMT5B):c.1954C>G (p.Gln652Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KMT5B 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 KMT5B Gene

Variant ID Type Subtype PubMed ID
nsv1112605 CNV deletion 24896259
nsv1145546 CNV deletion 24896259
nsv825963 CNV gain 20364138
nsv825966 CNV gain 20364138
nsv951027 CNV deletion 24416366
nsv957188 CNV deletion 24416366

Variation tolerance for KMT5B Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KMT5B Gene

Human Gene Mutation Database (HGMD)
KMT5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT5B
Leiden Open Variation Database (LOVD)
KMT5B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT5B Gene

Disorders for KMT5B Gene

MalaCards: The human disease database

(6) MalaCards diseases for KMT5B Gene - From: OMI, CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KMT5B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT5B_HUMAN
  • Mental retardation, autosomal dominant 51 (MRD51) [MIM:617788]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:28191889, ECO:0000269 PubMed:29276005}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KMT5B

genes like me logo Genes that share disorders with KMT5B: view

No data available for Genatlas for KMT5B Gene

Publications for KMT5B Gene

  1. The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13. (PMID: 11401438) Twells RC … Hess JF (Genomics 2001) 2 3 4
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  3. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. (PMID: 29276005) Faundes V … Banka S (American journal of human genetics 2018) 4 72
  4. 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
  5. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. (PMID: 28191889) Stessman HA … Eichler EE (Nature genetics 2017) 4 72

Products for KMT5B Gene

Sources for KMT5B Gene