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Aliases for SETD6 Gene

Aliases for SETD6 Gene

  • SET Domain Containing 6 2 3 5
  • SET Domain-Containing Protein 6 4
  • EC 2.1.1.- 4

External Ids for SETD6 Gene

Previous GeneCards Identifiers for SETD6 Gene

  • GC16P057107
  • GC16P058549
  • GC16P044417

Summaries for SETD6 Gene

Entrez Gene Summary for SETD6 Gene

  • This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for SETD6 Gene

SETD6 (SET Domain Containing 6) is a Protein Coding gene. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. GO annotations related to this gene include NF-kappaB binding and protein-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot for SETD6 Gene

  • Protein-lysine N-methyltransferase. Monomethylates Lys-310 of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates Lys-8 of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETD6 Gene

Genomics for SETD6 Gene

Regulatory Elements for SETD6 Gene

Enhancers for SETD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G058603 0.9 Ensembl 31.9 +88.0 88022 0.6 ZSCAN4 ZFP64 ZNF121 ZNF138 ZNF302 ZNF354C ZNF680 ZBTB11 OVOL3 ZNF426 SETD6 LOC101927556 CSNK2A2 ENSG00000260865 CNOT1
GH16G057645 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -868.0 -868033 4.7 HDGF HNRNPUL1 PKNOX1 MLX ARNT ZFP64 WRNIP1 ARID4B SIN3A ZNF2 RSPRY1 KATNB1 SETD6 CSNK2A2 ADGRG5 CFAP20 GC16P057639 GC16M057649
GH16G058627 1.4 ENCODE dbSUPER 13.1 +113.7 113683 3.7 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SETD6 CNOT1 ENSG00000260865
GH16G057693 1.5 Ensembl ENCODE dbSUPER 11.6 -820.6 -820595 1.9 HDGF ZFP64 ARID4B YBX1 ZNF48 YY1 ETS1 GTF3C2 ZNF143 KDM4B DRC7 RSPRY1 SETD6 CSNK2A2 ENSG00000260467
GH16G057626 1.6 Ensembl ENCODE dbSUPER 10.3 -886.7 -886695 4.8 HDGF PKNOX1 SIN3A ARID4B DMAP1 YBX1 ZNF2 ZNF766 ZNF302 ZNF416 RSPRY1 LOC101927556 POLR2C LOC105371286 NUP93 ADGRG3 CCDC102A SETD6 ARL2BP CNGB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SETD6 on UCSC Golden Path with GeneCards custom track

Promoters for SETD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086584 121 1601 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for SETD6 Gene

Chromosome:
16
Start:
58,515,479 bp from pter
End:
58,521,181 bp from pter
Size:
5,703 bases
Orientation:
Plus strand

Genomic View for SETD6 Gene

Genes around SETD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETD6 Gene

Proteins for SETD6 Gene

  • Protein details for SETD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBK2-SETD6_HUMAN
    Recommended name:
    N-lysine methyltransferase SETD6
    Protein Accession:
    Q8TBK2
    Secondary Accessions:
    • A8K380
    • B5ME38
    • Q9H787

    Protein attributes for SETD6 Gene

    Size:
    473 amino acids
    Molecular mass:
    53189 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SETD6 Gene

    Alternative splice isoforms for SETD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETD6 Gene

Post-translational modifications for SETD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SETD6 Gene

Domains & Families for SETD6 Gene

Gene Families for SETD6 Gene

Protein Domains for SETD6 Gene

Suggested Antigen Peptide Sequences for SETD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBK2

UniProtKB/Swiss-Prot:

SETD6_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily.
genes like me logo Genes that share domains with SETD6: view

Function for SETD6 Gene

Molecular function for SETD6 Gene

UniProtKB/Swiss-Prot Function:
Protein-lysine N-methyltransferase. Monomethylates Lys-310 of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates Lys-8 of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity).

Enzyme Numbers (IUBMB) for SETD6 Gene

Gene Ontology (GO) - Molecular Function for SETD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21131967
GO:0008168 methyltransferase activity IEA --
GO:0016279 protein-lysine N-methyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0051059 NF-kappaB binding IPI 21131967
genes like me logo Genes that share ontologies with SETD6: view
genes like me logo Genes that share phenotypes with SETD6: view

Animal Models for SETD6 Gene

MGI Knock Outs for SETD6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SETD6 Gene

Localization for SETD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETD6 Gene

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 SETD6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SETD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21131967
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SETD6: view

Pathways & Interactions for SETD6 Gene

genes like me logo Genes that share pathways with SETD6: view

Pathways by source for SETD6 Gene

1 BioSystems pathway for SETD6 Gene

Interacting Proteins for SETD6 Gene

Gene Ontology (GO) - Biological Process for SETD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018026 peptidyl-lysine monomethylation IDA 21131967
GO:0019827 stem cell population maintenance ISS,IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IMP 21131967
GO:0032259 methylation IEA --
GO:0034968 histone lysine methylation IDA 23324626
genes like me logo Genes that share ontologies with SETD6: view

No data available for SIGNOR curated interactions for SETD6 Gene

Drugs & Compounds for SETD6 Gene

No Compound Related Data Available

Transcripts for SETD6 Gene

Unigene Clusters for SETD6 Gene

SET domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SETD6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d · 10e
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5: - - - - - - - -
SP6:
SP7:
SP8:

Relevant External Links for SETD6 Gene

GeneLoc Exon Structure for
SETD6
ECgene alternative splicing isoforms for
SETD6

Expression for SETD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SETD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SETD6 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SETD6 Gene



Protein tissue co-expression partners for SETD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SETD6 Gene:

SETD6

SOURCE GeneReport for Unigene cluster for SETD6 Gene:

Hs.731691

Evidence on tissue expression from TISSUES for SETD6 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with SETD6: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SETD6 Gene

Orthologs for SETD6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SETD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETD6 34 35
  • 99.18 (n)
cow
(Bos Taurus)
Mammalia SETD6 34 35
  • 89.55 (n)
dog
(Canis familiaris)
Mammalia SETD6 34 35
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Setd6 34 16 35
  • 83.93 (n)
rat
(Rattus norvegicus)
Mammalia Setd6 34
  • 83.41 (n)
oppossum
(Monodelphis domestica)
Mammalia SETD6 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SETD6 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETD6 34 35 35
  • 71.41 (n)
-- 35
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia setd6 34
  • 59.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1397 34
zebrafish
(Danio rerio)
Actinopterygii setd6 34 35
  • 56.58 (n)
wufb58f11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7724 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RKM4 35 37
  • 21 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09827 34
  • 44.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
Species where no ortholog for SETD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SETD6 Gene

ENSEMBL:
Gene Tree for SETD6 (if available)
TreeFam:
Gene Tree for SETD6 (if available)

Paralogs for SETD6 Gene

Pseudogenes.org Pseudogenes for SETD6 Gene

genes like me logo Genes that share paralogs with SETD6: view

No data available for Paralogs for SETD6 Gene

Variants for SETD6 Gene

Sequence variations from dbSNP and Humsavar for SETD6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000073867 -- 58,521,497(+) GGTTT(C/G)AACCC intron-variant, nc-transcript-variant, downstream-variant-500B
rs1000521128 -- 58,517,040(+) CTCCT(C/G)TATGT intron-variant
rs1000742682 -- 58,515,489(+) CGCCG(A/G)AAGTG nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000958598 -- 58,520,076(+) CAAAA(G/T)CCTTA nc-transcript-variant, utr-variant-3-prime
rs1001133129 -- 58,522,288(+) TCACA(C/T)GTAAA intron-variant, downstream-variant-500B

Variation tolerance for SETD6 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SETD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SETD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SETD6 Gene

Disorders for SETD6 Gene

Relevant External Links for SETD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SETD6

No disorders were found for SETD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SETD6 Gene

Publications for SETD6 Gene

  1. SETD6 monomethylates H2AZ on lysine 7 and is required for the maintenance of embryonic stem cell self-renewal. (PMID: 23324626) Binda O. … Richard S. (Epigenetics 2013) 3 4 64
  2. Lysine methylation of the NF-kappaB subunit RelA by SETD6 couples activity of the histone methyltransferase GLP at chromatin to tonic repression of NF-kappaB signaling. (PMID: 21131967) Levy D. … Gozani O. (Nat. Immunol. 2011) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64

Products for SETD6 Gene

Sources for SETD6 Gene

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