Aliases for SETD7 Gene

Aliases for SETD7 Gene

  • SET Domain Containing 7, Histone Lysine Methyltransferase 2 3 5
  • SET7/9 2 3 4
  • KMT7 2 3 4
  • SET7 2 3 4
  • SET Domain Containing Lysine Methyltransferase 7 2 3
  • Histone-Lysine N-Methyltransferase SETD7 3 4
  • Histone H3-K4 Methyltransferase SETD7 3 4
  • SET Domain-Containing Protein 7 3 4
  • Lysine N-Methyltransferase 7 3 4
  • H3-K4-HMTase SETD7 3 4
  • KIAA1717 2 4
  • SET9 3 4
  • SET Domain Containing 7, Lysine Methyltransferase 3
  • Histone H3-Lysine 4-Specific Methyltransferase 3
  • EC 2.1.1.364 4
  • SETD7 5
  • Set9 2

External Ids for SETD7 Gene

Previous GeneCards Identifiers for SETD7 Gene

  • GC04M140646
  • GC04M140417
  • GC04M136156

Summaries for SETD7 Gene

GeneCards Summary for SETD7 Gene

SETD7 (SET Domain Containing 7, Histone Lysine Methyltransferase) is a Protein Coding gene. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include p53 binding and protein-lysine N-methyltransferase activity. An important paralog of this gene is RSPH10B.

UniProtKB/Swiss-Prot Summary for SETD7 Gene

  • Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation.

Tocris Summary for SETD7 Gene

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

Gene Wiki entry for SETD7 Gene

No data available for Entrez Gene Summary , CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SETD7 Gene

Genomics for SETD7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SETD7 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
GH04J139552 Promoter/Enhancer 2.3 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.3 +49.7 49651 9.9 NCOR1 IKZF1 MYC ZNF600 JUND ZNF580 ATF2 CEBPA ATF3 ZNF10 ENSG00000272717 HSALNG0037431 SETD7 ELF2 NAA15 MAML3 ELMOD2 NDUFC1 ENSG00000286896 RAB33B
GH04J139663 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 250.2 -60.4 -60397 7.4 NCOR1 MYC IKZF1 ZNF592 CEBPA ATF3 NFIC POLR2A YY1 MXD4 MGST2 NONHSAG038956.2 SETD7 ELMOD2 MAML3 ELF2 RN7SKP237 lnc-MAML3-1 HSALNG0037445
GH04J139606 Promoter 1.3 EPDnew Ensembl 250.7 -0.1 -102 0.8 MYC ZNF580 CEBPB BHLHE40 MNT MAX GABPA POLR2A ELF1 ZNF316 LOC105377622 SETD7 lnc-MAML3-3 HSALNG0037435 ENSG00000286896 MGST2
GH04J139645 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250.3 -39.8 -39802 2.6 MYC CTBP1 SPI1 SMARCE1 PKNOX1 ETV1 FOXA1 ATF4 DPF2 ATF3 ENSG00000261268 LOC101927490 SETD7 MGST2 piR-46847-190
GH04J139528 Enhancer 0.9 Ensembl ENCODE dbSUPER 18.1 +77.9 77890 1.2 MAX POLR2A BATF ATF2 BHLHE40 HLF RAD51 YY1 TCF12 RUNX3 SETD7 MGARP HSALNG0037432 piR-44633 RAB33B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SETD7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SETD7

Top Transcription factor binding sites by QIAGEN in the SETD7 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • Nkx2-5
  • SEF-1 (1)

Genomic Locations for SETD7 Gene

Latest Assembly
chr4:139,492,974-139,606,699
(GRCh38/hg38)
Size:
113,726 bases
Orientation:
Minus strand

Previous Assembly
chr4:140,414,128-140,477,373
(GRCh37/hg19 by Entrez Gene)
Size:
63,246 bases
Orientation:
Minus strand

chr4:140,417,095-140,527,853
(GRCh37/hg19 by Ensembl)
Size:
110,759 bases
Orientation:
Minus strand

Genomic View for SETD7 Gene

Genes around SETD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETD7 Gene

Proteins for SETD7 Gene

  • Protein details for SETD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTS6-SETD7_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase SETD7
    Protein Accession:
    Q8WTS6
    Secondary Accessions:
    • B5WWL3
    • Q0VAH3
    • Q4W5A9
    • Q9C0E6

    Protein attributes for SETD7 Gene

    Size:
    366 amino acids
    Molecular mass:
    40721 Da
    Quaternary structure:
    • Interacts with IPF1/PDX-1.
    SequenceCaution:
    • Sequence=BAB21808.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Monomethyltransferase activity is achieved by disrupting the formation at near-attack conformations for the dimethylation reaction.

    Three dimensional structures from OCA and Proteopedia for SETD7 Gene

neXtProt entry for SETD7 Gene

Post-translational modifications for SETD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SETD7 Gene

Domains & Families for SETD7 Gene

Gene Families for SETD7 Gene

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

Protein Domains for SETD7 Gene

InterPro:
Blocks:
  • Nuclear protein SET

Suggested Antigen Peptide Sequences for SETD7 Gene

GenScript: Design optimal peptide antigens:
  • SET7/9 (SETD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WTS6

UniProtKB/Swiss-Prot:

SETD7_HUMAN :
  • The SET domain is necessary but not sufficient for histone methyltransferase activity.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET7 subfamily.
Domain:
  • The SET domain is necessary but not sufficient for histone methyltransferase activity.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET7 subfamily.
genes like me logo Genes that share domains with SETD7: view

Function for SETD7 Gene

Molecular function for SETD7 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60264, Rhea:RHEA-COMP:15543, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.364; Evidence={ECO:0000255|PROSITE-ProRule:PRU00910, ECO:0000269|PubMed:12540855};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=29 uM for histone H3 {ECO:0000269|PubMed:16415881}; KM=12 uM for TAF10 {ECO:0000269|PubMed:16415881}; KM=69 uM for p53/TP53 {ECO:0000269|PubMed:16415881};

Enzyme Numbers (IUBMB) for SETD7 Gene

Phenotypes From GWAS Catalog for SETD7 Gene

Gene Ontology (GO) - Molecular Function for SETD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 17108971
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 12540855
GO:0008168 methyltransferase activity IEA --
GO:0016279 protein-lysine N-methyltransferase activity IEA,IDA 16415881
genes like me logo Genes that share ontologies with SETD7: view
genes like me logo Genes that share phenotypes with SETD7: view

Animal Models for SETD7 Gene

MGI Knock Outs for SETD7:

miRNA for SETD7 Gene

miRTarBase miRNAs that target SETD7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETD7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SETD7 Gene

Localization for SETD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETD7 Gene

Nucleus. Chromosome.

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 SETD7 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoli rim (4)
  • Mitotic chromosome (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SETD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SETD7: view

Pathways & Interactions for SETD7 Gene

genes like me logo Genes that share pathways with SETD7: view

Pathways by source for SETD7 Gene

1 Cell Signaling Technology pathway for SETD7 Gene
1 GeneTex pathway for SETD7 Gene

Gene Ontology (GO) - Biological Process for SETD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization NAS 12514135
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006479 protein methylation IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 23509280
GO:0018022 peptidyl-lysine methylation IEA --
genes like me logo Genes that share ontologies with SETD7: view

No data available for SIGNOR curated interactions for SETD7 Gene

Drugs & Compounds for SETD7 Gene

(4) Drugs for SETD7 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lysine Approved Nutra 187
s-adenosylhomocysteine Experimental Pharma Target 0
(R)-PFI 2 hydrochloride Pharma SETD7 histone lysine methyltransferase inhibitor 0
PFI-2 Pharma 0

(1) Additional Compounds for SETD7 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

(2) ApexBio Compounds for SETD7 Gene

Compound Action Cas Number
(R)-PFI 2 hydrochloride SETD7 histone lysine methyltransferase inhibitor
PFI-2 1627676-59-8
genes like me logo Genes that share compounds with SETD7: view

Drug products for research

Transcripts for SETD7 Gene

mRNA/cDNA for SETD7 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 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 SETD7

Alternative Splicing Database (ASD) splice patterns (SP) for SETD7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2:
SP3: -

Relevant External Links for SETD7 Gene

GeneLoc Exon Structure for
SETD7

Expression for SETD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SETD7 Gene

mRNA differential expression in normal tissues according to GTEx for SETD7 Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for SETD7 Gene

This gene is overexpressed in Bone marrow stromal cell (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SETD7 Gene



Protein tissue co-expression partners for SETD7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SETD7

SOURCE GeneReport for Unigene cluster for SETD7 Gene:

Hs.480792

mRNA Expression by UniProt/SwissProt for SETD7 Gene:

Q8WTS6-SETD7_HUMAN
Tissue specificity: Widely expressed. Expressed in pancreatic islets.

Evidence on tissue expression from TISSUES for SETD7 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Heart(2.9)
  • Muscle(2.9)
  • Blood(2.8)
  • Kidney(2.5)
  • Intestine(2.5)
  • Spleen(2.3)
  • Lung(2.3)
  • Skin(2.3)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with SETD7: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SETD7 Gene

Orthologs for SETD7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SETD7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SETD7 29 30
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SETD7 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SETD7 29 30
  • 92.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SETD7 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Setd7 29
  • 88.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia SETD7 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Setd7 29 16 30
  • 87.98 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SETD7 29 30
  • 80.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SETD7 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia setd7 29
  • 76.78 (n)
Str.15687 29
Zebrafish
(Danio rerio)
Actinopterygii setd7 29 30
  • 69.41 (n)
OneToOne
Dr.12876 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8415 29
Species where no ortholog for SETD7 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)
  • 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 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 SETD7 Gene

ENSEMBL:
Gene Tree for SETD7 (if available)
TreeFam:
Gene Tree for SETD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SETD7: view image
Alliance of Genome Resources:
Additional Orthologs for SETD7

Paralogs for SETD7 Gene

Paralogs for SETD7 Gene

(4) SIMAP similar genes for SETD7 Gene using alignment to 6 proteins:

  • SETD7_HUMAN
  • B5MCS2_HUMAN
  • B5MCZ8_HUMAN
  • D6RJA0_HUMAN
  • V9GY19_HUMAN
  • V9GYG1_HUMAN
genes like me logo Genes that share paralogs with SETD7: view

Variants for SETD7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SETD7 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs35955363 Benign: not provided 139,547,024(-) C/T
NM_030648.3(SETD7):c.66G>A (p.Pro22=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SETD7 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 SETD7 Gene

Variant ID Type Subtype PubMed ID
esv27698 CNV loss 19812545
esv3894040 CNV loss 25118596
nsv819236 CNV gain 19587683
nsv830085 CNV loss 17160897
nsv830086 CNV gain 17160897

Variation tolerance for SETD7 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SETD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SETD7
Leiden Open Variation Database (LOVD)
SETD7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETD7 Gene

Disorders for SETD7 Gene

Additional Disease Information for SETD7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SETD7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SETD7 Gene

Publications for SETD7 Gene

  1. Set9, a novel histone H3 methyltransferase that facilitates transcription by precluding histone tail modifications required for heterochromatin formation. (PMID: 11850410) Nishioka K … Reinberg D (Genes & development 2002) 2 3 4 22
  2. Purification and functional characterization of a histone H3-lysine 4-specific methyltransferase. (PMID: 11779497) Wang H … Zhang Y (Molecular cell 2001) 2 3 4 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. SET domains of histone methyltransferases recognize ISWI-remodeled nucleosomal species. (PMID: 19752191) Krajewski WA … Reese JC (Molecular and cellular biology 2010) 3 22
  5. Methylation-acetylation interplay activates p53 in response to DNA damage. (PMID: 17646389) Ivanov GS … Barlev NA (Molecular and cellular biology 2007) 3 22

Products for SETD7 Gene

Sources for SETD7 Gene