This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. ... See more...

Aliases for SETMAR Gene

Aliases for SETMAR Gene

  • SET Domain And Mariner Transposase Fusion Gene 2 3 5
  • SET Domain And Mariner Transposase Fusion Protein 3 4
  • Histone-Lysine N-Methyltransferase SETMAR 3 4
  • Metnase 2 4
  • SET Domain And Mariner Transposase Fusion Gene-Containing Protein 3
  • EC 2.1.1.43 50
  • METNASE 3
  • SETMAR 5
  • Mar1 3

External Ids for SETMAR Gene

Previous GeneCards Identifiers for SETMAR Gene

  • GC03P004273
  • GC03P004336
  • GC03P004320
  • GC03P004344

Summaries for SETMAR Gene

Entrez Gene Summary for SETMAR Gene

  • This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for SETMAR Gene

SETMAR (SET Domain And Mariner Transposase Fusion Gene) is a Protein Coding gene. Diseases associated with SETMAR include Meier-Gorlin Syndrome 1 and Fanconi Anemia, Complementation Group A. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and single-stranded DNA binding. An important paralog of this gene is GVQW3.

UniProtKB/Swiss-Prot Summary for SETMAR Gene

  • Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).

Gene Wiki entry for SETMAR Gene

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

Genomics for SETMAR Gene

GeneHancer (GH) Regulatory Elements Pubs

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

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

Top Transcription factor binding sites by QIAGEN in the SETMAR gene promoter:
  • AP-4
  • Lhx3a
  • LHX3b
  • MyoD
  • TBP

Genomic Locations for SETMAR Gene

Latest Assembly
chr3:4,303,304-4,320,649
(GRCh38/hg38)
Size:
17,346 bases
Orientation:
Plus strand

Previous Assembly
chr3:4,344,988-4,358,949
(GRCh37/hg19 by Entrez Gene)
Size:
13,962 bases
Orientation:
Plus strand

chr3:4,344,988-4,359,251
(GRCh37/hg19 by Ensembl)
Size:
14,264 bases
Orientation:
Plus strand

Genomic View for SETMAR Gene

Genes around SETMAR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SETMAR Gene

Proteins for SETMAR Gene

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

    Protein Symbol:
    Q53H47-SETMR_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase SETMAR
    Protein Accession:
    Q53H47
    Secondary Accessions:
    • B4DY74
    • E7EN68
    • Q13579
    • Q1G668
    • Q96F41

    Protein attributes for SETMAR Gene

    Size:
    684 amino acids
    Molecular mass:
    78034 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer (PubMed:20521842). Interacts with PRPF19; required for SETMAR recruitment to damaged DNA sites (PubMed:18263876). Interacts with PCNA (PubMed:20457750). Interacts with TOP2A; stimulates TOP2A topoisomerase activity (PubMed:18790802, PubMed:20457750). May interact with RAD9A and/or RAD9B (PubMed:20457750).
    SequenceCaution:
    • Sequence=AAH11635.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAY29570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96454.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • The mariner transposase region in only present in primates and appeared 40-58 million years ago, after the insertion of a transposon downstream of a preexisting SET gene, followed by the de novo exonization of previously non-coding sequence and the creation of a new intron.

    Three dimensional structures from OCA and Proteopedia for SETMAR Gene

    Alternative splice isoforms for SETMAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETMAR Gene

Selected DME Specific Peptides for SETMAR Gene

Q53H47:
  • NHSCEPN
  • PFQYTPDHV

Post-translational modifications for SETMAR Gene

  • Methylated. Methylation regulates activity in DNA decatenation.
  • Phosphorylated at Ser-508 by CHEK1 and dephosphorylated by protein phosphatase 2A/PP2A. Phosphorylation at Ser-508 is enhanced by DNA damage and promotes recruitment to damaged DNA. It stimulates DNA repair and impairs replication fork restart.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SETMAR Gene

Gene Families for SETMAR Gene

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

Protein Domains for SETMAR Gene

InterPro:
Blocks:
  • Nuclear protein SET
  • SET-related region

Suggested Antigen Peptide Sequences for SETMAR Gene

GenScript: Design optimal peptide antigens:
  • SETMAR protein (Q96H41_HUMAN)
  • SET domain and mariner transposase fusion gene-containing protein (SETMR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53H47

UniProtKB/Swiss-Prot:

SETMR_HUMAN :
  • The mariner transposase Hsmar1 region mediates DNA-binding. It has retained some of the nucleases activity but has lost its transposase activity because the active site contains an Asn in position 610 instead of an Asp residue.
  • In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.
Domain:
  • The mariner transposase Hsmar1 region mediates DNA-binding. It has retained some of the nucleases activity but has lost its transposase activity because the active site contains an Asn in position 610 instead of an Asp residue.
  • In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
Family:
  • In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.
  • In the C-terminal section; belongs to the mariner transposase family.
genes like me logo Genes that share domains with SETMAR: view

Function for SETMAR Gene

Molecular function for SETMAR Gene

UniProtKB/Swiss-Prot Function:
Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60308, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9787, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.357; Evidence={ECO:0000269|PubMed:16332963};.

Enzyme Numbers (IUBMB) for SETMAR Gene

Phenotypes From GWAS Catalog for SETMAR Gene

Gene Ontology (GO) - Molecular Function for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IMP 24573677
GO:0002039 p53 binding IEA --
GO:0003677 DNA binding TAS 21491884
GO:0003690 double-stranded DNA binding IMP 24573677
GO:0003697 single-stranded DNA binding IMP 24573677
genes like me logo Genes that share ontologies with SETMAR: view
genes like me logo Genes that share phenotypes with SETMAR: view

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SETMAR Gene

Localization for SETMAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETMAR Gene

Nucleus. Chromosome. Note=Recruited on damaged DNA at sites of double-strand breaks. {ECO:0000269 PubMed:18263876}.

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 SETMAR gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 colocalizes_with condensed chromosome IDA 18790802
GO:0005634 nucleus IDA 22231448
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA --
GO:0035861 site of double-strand break IMP 22231448
genes like me logo Genes that share ontologies with SETMAR: view

Pathways & Interactions for SETMAR Gene

PathCards logo

SuperPathways for SETMAR Gene

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

Pathways by source for SETMAR Gene

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

Gene Ontology (GO) - Biological Process for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000729 DNA double-strand break processing IDA 21491884
GO:0000737 DNA catabolic process, endonucleolytic IMP 24573677
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IMP 18263876
GO:0006325 chromatin organization IEA --
genes like me logo Genes that share ontologies with SETMAR: view

No data available for SIGNOR curated interactions for SETMAR Gene

Drugs & Compounds for SETMAR Gene

(1) Drugs for SETMAR Gene - From: HMDB

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

(1) Additional Compounds for SETMAR 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 SETMAR: view

Transcripts for SETMAR Gene

mRNA/cDNA for SETMAR Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 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 SETMAR

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
SP1: - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: -
SP7: - - - - - - - -
SP8:

Relevant External Links for SETMAR Gene

GeneLoc Exon Structure for
SETMAR

Expression for SETMAR Gene

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

Protein differential expression in normal tissues from HIPED for SETMAR Gene

This gene is overexpressed in Heart (9.2), Pancreas (9.1), Fetal Brain (8.9), and Bone marrow mesenchymal stem cell (8.6).

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



Protein tissue co-expression partners for SETMAR Gene

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

SOURCE GeneReport for Unigene cluster for SETMAR Gene:

Hs.475300

mRNA Expression by UniProt/SwissProt for SETMAR Gene:

Q53H47-SETMR_HUMAN
Tissue specificity: Widely expressed, with highest expression in placenta and ovary and lowest expression in skeletal muscle.

Evidence on tissue expression from TISSUES for SETMAR Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with SETMAR: view

Primer products for research

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

Orthologs for SETMAR Gene

This gene was present in the common ancestor of animals.

Orthologs for SETMAR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SETMAR 29
  • 99.61 (n)
Cow
(Bos Taurus)
Mammalia LOC534913 29
  • 90.76 (n)
SETMAR 30
  • 82 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SETMAR 30
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Setmar 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SETMAR 30
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SETMAR 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101747682 29
  • 64.66 (n)
Lizard
(Anolis carolinensis)
Reptilia SETMAR 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia setmar 29
  • 59.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii setmar 30
  • 45 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4565 29
  • 54.36 (n)
G9a 30
  • 5 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C06B8.5 31
  • 43 (a)
C16C8.6 31
  • 43 (a)
C54H2.2 31
  • 43 (a)
F30B5.5 31
  • 43 (a)
K09E10.3 31
  • 43 (a)
T27E7.7 31
  • 43 (a)
Y49F6A.4 31
  • 43 (a)
Y73B3A.19 31
  • 43 (a)
Y73F8A.29 31
  • 43 (a)
ZC53.3 31
  • 43 (a)
ZK563.3 31
  • 43 (a)
B0564.5 31
  • 42 (a)
C14A6.4 31
  • 42 (a)
C29E6.6 31
  • 42 (a)
C30G4.1 31
  • 42 (a)
C31A11.2 31
  • 42 (a)
C33A12.5 31
  • 42 (a)
C36A4.7 31
  • 42 (a)
E03H4.1 31
  • 42 (a)
F11D11.9 31
  • 42 (a)
F15E11.6 31
  • 42 (a)
F16D3.5 31
  • 42 (a)
F27B3.4 31
  • 42 (a)
F35B3.2 31
  • 42 (a)
F35B3.6 31
  • 42 (a)
F44F4.8 31
  • 42 (a)
F47G9.5 31
  • 42 (a)
F56A4.8 31
  • 42 (a)
F56D5.7 31
  • 42 (a)
K07C6.12 31
  • 42 (a)
M01D1.4 31
  • 42 (a)
R05G6.2 31
  • 42 (a)
R07H5.5 31
  • 42 (a)
R08F11.6 31
  • 42 (a)
R10E4.8 31
  • 42 (a)
T06D8.4 31
  • 42 (a)
T12B5.6 31
  • 42 (a)
T26H8.1 31
  • 42 (a)
Y7A5A.4 31
  • 42 (a)
Y37A1A.1 31
  • 42 (a)
Y39A3A.1 31
  • 42 (a)
Y45F10C.5 31
  • 42 (a)
Y45G12C.13 31
  • 42 (a)
Y51H4A.8 31
  • 42 (a)
Y53F4B.34 31
  • 42 (a)
Y64G10A.5 31
  • 42 (a)
Y71D11A.4 31
  • 42 (a)
Y95B8A.3 31
  • 42 (a)
Y105C5B.22 31
  • 42 (a)
Y116A8B.2 31
  • 42 (a)
Y119D3A.5 31
  • 42 (a)
ZC132.1 31
  • 42 (a)
ZK546.8 31
  • 42 (a)
ZK1225.3 31
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToOne
Species where no ortholog for SETMAR 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)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 SETMAR Gene

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

Paralogs for SETMAR Gene

Paralogs for SETMAR Gene

(3) SIMAP similar genes for SETMAR Gene using alignment to 7 proteins:

  • SETMR_HUMAN
  • B9ZVV8_HUMAN
  • C9JHK2_HUMAN
  • E7EN68_HUMAN
  • F8WB33_HUMAN
  • F8WEU1_HUMAN
  • Q96H41_HUMAN

Pseudogenes.org Pseudogenes for SETMAR Gene

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

Variants for SETMAR Gene

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

Variant ID Type Subtype PubMed ID
dgv272n21 CNV loss 19592680
dgv8185n54 CNV loss 21841781
esv2759126 CNV loss 17122850
esv3575535 CNV gain 25503493
esv3893632 CNV loss 25118596
esv3893640 CNV loss 25118596
nsv1003234 CNV gain 25217958
nsv1006124 CNV loss 25217958
nsv469899 CNV loss 18288195
nsv589451 CNV loss 21841781
nsv997886 CNV gain 25217958

Variation tolerance for SETMAR Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SETMAR Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SETMAR Gene

Disorders for SETMAR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
meier-gorlin syndrome 1
  • mgors1
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SETMAR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SETMAR: view

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

Publications for SETMAR Gene

  1. Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome. (PMID: 9461395) Robertson HM … Zumpano KL (Gene 1997) 2 3 4
  2. The DDN catalytic motif is required for Metnase functions in non-homologous end joining (NHEJ) repair and replication restart. (PMID: 24573677) Kim HS … Lee SH (The Journal of biological chemistry 2014) 3 4
  3. Chk1 phosphorylation of Metnase enhances DNA repair but inhibits replication fork restart. (PMID: 22231448) Hromas R … Lee SH (Oncogene 2012) 3 4
  4. Methylation of histone H3 lysine 36 enhances DNA repair by nonhomologous end-joining. (PMID: 21187428) Fnu S … Hromas R (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4
  5. Metnase promotes restart and repair of stalled and collapsed replication forks. (PMID: 20457750) De Haro LP … Nickoloff JA (Nucleic acids research 2010) 3 4

Products for SETMAR Gene

Sources for SETMAR Gene