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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

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. Diseases associated with TONSL include primary systemic mycosis. GO annotations related to this gene include transcription corepressor activity and histone binding. An important paralog of this gene is BCORL1.

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.

No data available for 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

Promoters for TONSL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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};

    Alternative splice isoforms for TONSL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TONSL Gene

Proteomics data for TONSL Gene at MOPED

Post-translational modifications for TONSL Gene

  • Ubiquitination at Lys 336
  • Modification sites at PhosphoSitePlus

Other Protein References for TONSL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TONSL Gene

Domains & Families for TONSL Gene

Gene Families for TONSL Gene

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.
  • Contains 3 ANK repeats.
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.
Similarity:
  • Contains 3 ANK repeats.
  • Contains 7 LRR (leucine-rich) repeats.
  • Contains 8 TPR repeats.
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.
genes like me logo Genes that share phenotypes with TONSL: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TONSL Gene COMPARTMENTS Subcellular localization image for TONSL gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TONSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
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

None

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

Unigene Clusters for TONSL Gene

Tonsoku-like, DNA repair protein:
Representative Sequences:

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 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, MOPED, and MaxQB for TONSL Gene



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.
genes like me logo Genes that share expression patterns with TONSL: view

Protein tissue co-expression partners for TONSL Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TONSL 35
  • 80.36 (n)
  • 75.33 (a)
TONSL 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TONSL 35
  • 80.4 (n)
  • 77.25 (a)
TONSL 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tonsl 35
  • 78.49 (n)
  • 77.04 (a)
Tonsl 16
Tonsl 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TONSL 35
  • 98.87 (n)
  • 98.3 (a)
TONSL 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tonsl 35
  • 78.59 (n)
  • 76.73 (a)
oppossum
(Monodelphis domestica)
Mammalia TONSL 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TONSL 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 33 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TONSL 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tonsl 35
  • 56.39 (n)
  • 48.56 (a)
Str.11504 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15010 35
zebrafish
(Danio rerio)
Actinopterygii zgc:171416 35
  • 52.76 (n)
  • 47.32 (a)
TONSL 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006055 35
  • 45.11 (n)
  • 31.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7457 35
  • 42.16 (n)
  • 32.2 (a)
CG7457 36
  • 24 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 36
  • 13 (a)
OneToMany
Species with no ortholog for TONSL:
  • 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
VAR_042411 -
VAR_042412 -
VAR_042413 -
VAR_042414 -
rs741969 -- 144,442,659(+) CCTGG(A/G)GCGGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv470249 CNV Loss 18288195
nsv515809 CNV Gain+Loss 19592680
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891817 CNV Loss 21882294
dgv7959n71 CNV Loss 21882294
nsv891841 CNV Loss 21882294
nsv891845 CNV Gain 21882294
nsv891846 CNV Loss 21882294
dgv2264e1 CNV Complex 17122850
nsv831489 CNV Loss 17160897
dgv7966n71 CNV Loss 21882294
dgv7967n71 CNV Loss 21882294
dgv7968n71 CNV Loss 21882294
dgv7969n71 CNV Loss 21882294
dgv7970n71 CNV Loss 21882294
dgv7971n71 CNV Loss 21882294
dgv7972n71 CNV Loss 21882294
dgv7973n71 CNV Loss 21882294
dgv907n27 CNV Loss 19166990
nsv466020 CNV Loss 19166990
dgv7974n71 CNV Loss 21882294
nsv891887 CNV Gain 21882294
dgv7975n71 CNV Loss 21882294
nsv891890 CNV Loss 21882294
nsv891891 CNV Loss 21882294
dgv7976n71 CNV Loss 21882294
dgv7977n71 CNV Loss 21882294
dgv7978n71 CNV Loss 21882294
nsv891897 CNV Loss 21882294
esv2738066 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
TONSL
Human Gene Mutation Database (HGMD)
TONSL

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

Disorders for TONSL Gene

MalaCards: The human disease database

(1) MalaCards diseases for TONSL Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary systemic mycosis
- elite association - COSMIC cancer census association via MalaCards
Search TONSL in MalaCards View complete list of genes associated with diseases

Relevant External Links for TONSL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TONSL
genes like me logo Genes that share disorders with TONSL: view

No data available for 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 D.A. … Barton P.J. (Ann. Hum. Genet. 2000) 2 3 4 67
  2. Cloning of a differentially expressed I kappa B-related protein. (PMID: 7738005) Ray P. … Ray A. (J. Biol. Chem. 1995) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. (PMID: 25184681) Hill S.J. … Livingston D.M. (Genes Dev. 2014) 3

Products for TONSL Gene

Sources for TONSL Gene

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