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Aliases for TONSL Gene

Aliases for TONSL Gene

  • Tonsoku Like, DNA Repair Protein 2 3 5
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor-Like 2 2 3 4
  • Inhibitor Of Kappa B-Related Protein 3 4
  • NF-Kappa-B Inhibitor-Like Protein 2 3 4
  • I-Kappa-B-Related Protein 3 4
  • IkappaBR 3 4
  • NFKBIL2 3 4
  • IKBR 3 4
  • Tonsoku-Like Protein 3

External Ids for TONSL Gene

Previous HGNC Symbols for TONSL Gene

  • NFKBIL2

Previous GeneCards Identifiers for TONSL Gene

  • GC08M145655
  • GC08M145656
  • GC08M145659
  • GC08M145663

Summaries for TONSL Gene

Entrez Gene Summary for TONSL Gene

  • The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

GeneCards Summary for TONSL Gene

TONSL (Tonsoku Like, DNA Repair Protein) is a Protein Coding gene. GO annotations related to this gene include transcription corepressor activity and histone binding. An important paralog of this gene is ANKRD11.

UniProtKB/Swiss-Prot for TONSL Gene

  • Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.

Additional gene information for TONSL Gene

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

Genomics for TONSL Gene

Regulatory Elements for TONSL Gene

Enhancers for TONSL 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
GH08H144425 1.7 FANTOM5 ENCODE dbSUPER 16.6 +15.6 15550 6 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 VPS28 ZNF517 SLC39A4 CPSF1 ZNF7 TONSL MAF1 ZNF623 ZNF250 ZNF251
GH08H144412 1.3 ENCODE dbSUPER 16.2 +28.3 28257 7 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 GLIS2 VPS28 SLC39A4 CPSF1 TONSL C8orf82 LOC105375803 HGH1 ZNF252P ENSG00000272115
GH08H144422 1.2 Ensembl ENCODE dbSUPER 15.7 +20.9 20918 2 KLF1 ZNF687 RFX1 SIN3A KLF17 MNT ZIC2 ZNF592 ZFHX2 POLR2A VPS28 TONSL LOC105375803 C8orf82 PIR48691 SLC39A4
GH08H144455 1.4 Ensembl ENCODE 11.7 -12.0 -11959 1 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ZFP64 SIN3A ZNF2 ZNF766 ZNF416 ZNF251 ZNF623 ZNF7 ZNF250 ZNF16 LRRC14 VPS28 CPSF1 ZNF517 ZNF34
GH08H144442 1 ENCODE 14.6 +0.3 260 2 HDGF ATF1 ARID4B SIN3A ZNF121 GLIS2 ZNF143 ATF7 SP3 MXD4 CPSF1 ZNF7 ZNF623 ZNF250 VPS28 TONSL ZNF251 ZNF34 LRRC14 ZNF517
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TONSL on UCSC Golden Path with GeneCards custom track

Genomic Location for TONSL Gene

Chromosome:
8
Start:
144,428,775 bp from pter
End:
144,444,488 bp from pter
Size:
15,714 bases
Orientation:
Minus strand

Genomic View for TONSL Gene

Genes around TONSL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TONSL Gene

Proteins for TONSL Gene

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

    Protein Symbol:
    Q96HA7-TONSL_HUMAN
    Recommended name:
    Tonsoku-like protein
    Protein Accession:
    Q96HA7
    Secondary Accessions:
    • B5MDP0
    • C9JKB1
    • C9JNV8
    • Q13006
    • Q9UGJ2

    Protein attributes for TONSL Gene

    Size:
    1378 amino acids
    Molecular mass:
    150929 Da
    Quaternary structure:
    • Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2. Interacts with the MCM complex, the FACT complex and the RPA complex. Binds histones.
    SequenceCaution:
    • Sequence=AAA85819.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAH08782.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB63467.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TONSL Gene

    Alternative splice isoforms for TONSL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TONSL Gene

Post-translational modifications for TONSL Gene

  • Ubiquitination at Lys336
  • Modification sites at PhosphoSitePlus

Other Protein References for TONSL Gene

No data available for DME Specific Peptides for TONSL Gene

Domains & Families for TONSL Gene

Gene Families for TONSL Gene

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

Suggested Antigen Peptide Sequences for TONSL Gene

Graphical View of Domain Structure for InterPro Entry

Q96HA7

UniProtKB/Swiss-Prot:

TONSL_HUMAN :
  • The ANK repeats mediate the interaction with the MCM complex and histones, while the LRR repeats mediate the interaction with MMS22L.
  • Belongs to the Tonsoku family.
Domain:
  • The ANK repeats mediate the interaction with the MCM complex and histones, while the LRR repeats mediate the interaction with MMS22L.
Family:
  • Belongs to the Tonsoku family.
genes like me logo Genes that share domains with TONSL: view

Function for TONSL Gene

Molecular function for TONSL Gene

UniProtKB/Swiss-Prot Function:
Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.

Phenotypes From GWAS Catalog for TONSL Gene

Gene Ontology (GO) - Molecular Function for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 7738005
GO:0005515 protein binding IPI 17353931
GO:0042393 histone binding IDA 21055983
genes like me logo Genes that share ontologies with TONSL: view
genes like me logo Genes that share phenotypes with TONSL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TONSL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TONSL Gene

Localization for TONSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for TONSL Gene

Cytoplasm. Nucleus. Note=Mainly nuclear. Localizes to DNA damage sites, accumulates at stressed replication forks.

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 TONSL gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 21055983
GO:0005737 cytoplasm IEA,TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with TONSL: view

Pathways & Interactions for TONSL Gene

SuperPathways for TONSL Gene

No Data Available

Gene Ontology (GO) - Biological Process for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 21055983
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0031297 replication fork processing IMP 21055983
GO:0042994 cytoplasmic sequestering of transcription factor TAS 7738005
genes like me logo Genes that share ontologies with TONSL: view

No data available for Pathways by source and SIGNOR curated interactions for TONSL Gene

Drugs & Compounds for TONSL Gene

No Compound Related Data Available

Transcripts for TONSL Gene

mRNA/cDNA for TONSL Gene

Unigene Clusters for TONSL Gene

Tonsoku-like, DNA repair protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TONSL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for TONSL Gene

GeneLoc Exon Structure for
TONSL
ECgene alternative splicing isoforms for
TONSL

Expression for TONSL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TONSL Gene

This gene is overexpressed in Bone (33.4) and Lung (31.6).

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



Protein tissue co-expression partners for TONSL Gene

NURSA nuclear receptor signaling pathways regulating expression of TONSL Gene:

TONSL

SOURCE GeneReport for Unigene cluster for TONSL Gene:

Hs.675285

mRNA Expression by UniProt/SwissProt for TONSL Gene:

Q96HA7-TONSL_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle and tracheal epithelial cells.

Evidence on tissue expression from TISSUES for TONSL Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TONSL: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TONSL Gene

Orthologs for TONSL Gene

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

Orthologs for TONSL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TONSL 33 34
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia TONSL 33 34
  • 80.4 (n)
cow
(Bos Taurus)
Mammalia TONSL 33 34
  • 80.36 (n)
rat
(Rattus norvegicus)
Mammalia Tonsl 33
  • 78.59 (n)
mouse
(Mus musculus)
Mammalia Tonsl 33 16 34
  • 78.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TONSL 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TONSL 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 33 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TONSL 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tonsl 33
  • 56.39 (n)
Str.11504 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15010 33
zebrafish
(Danio rerio)
Actinopterygii zgc:171416 33
  • 52.76 (n)
TONSL 34
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006055 33
  • 45.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7457 33 34
  • 42.16 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 34
  • 13 (a)
OneToMany
Species where no ortholog for TONSL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 squirt (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 TONSL Gene

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

Paralogs for TONSL Gene

Paralogs for TONSL Gene

(3) SIMAP similar genes for TONSL Gene using alignment to 1 proteins:

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

Variants for TONSL Gene

Sequence variations from dbSNP and Humsavar for TONSL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000246275 -- 144,442,841(+) ACTTC(C/G)TCCCC intron-variant, upstream-variant-2KB
rs1000428237 -- 144,444,590(+) GCGGC(A/G)GGCGC upstream-variant-2KB
rs1000448460 -- 144,428,995(+) CATGT(C/T)AGCCA upstream-variant-2KB, utr-variant-3-prime
rs1000448780 -- 144,438,567(+) TGTGG(A/G)CACAG intron-variant
rs1000801214 -- 144,429,246(+) CAGCG(C/T)AGAGG upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12437n54 CNV loss 21841781
dgv12438n54 CNV loss 21841781
dgv12439n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv2738066 CNV deletion 23290073
esv2759652 CNV gain+loss 17122850
nsv1077077 CNV deletion 25765185
nsv428208 CNV gain 18775914
nsv466020 CNV loss 19166990
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612935 CNV loss 21841781
nsv612936 CNV loss 21841781
nsv612937 CNV loss 21841781
nsv612940 CNV loss 21841781
nsv612942 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for TONSL Gene

Residual Variation Intolerance Score: 91.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.60; 98.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TONSL Gene

Human Gene Mutation Database (HGMD)
TONSL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TONSL

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

Disorders for TONSL Gene

Relevant External Links for TONSL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TONSL

No disorders were found for TONSL Gene.

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

Publications for TONSL Gene

  1. Isolation, sequence, and chromosomal localisation of the human IkappaBR gene (NFKBIL2). (PMID: 11246458) Norman DA … Barton PJ (Annals of human genetics 2000) 2 3 4 60
  2. Cloning of a differentially expressed I kappa B-related protein. (PMID: 7738005) Ray P … Ray A (The Journal of biological chemistry 1995) 2 3 4 60
  3. A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability. (PMID: 21055985) O'Connell BC … Harper JW (Molecular cell 2010) 3 4 60
  4. The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination. (PMID: 21055983) O'Donnell L … Durocher D (Molecular cell 2010) 3 4 60
  5. Identification of the MMS22L-TONSL complex that promotes homologous recombination. (PMID: 21055984) Duro E … Rouse J (Molecular cell 2010) 3 4 60

Products for TONSL Gene

Sources for TONSL Gene

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