TONSL (tonsoku like, DNA repair protein)

2010-12-01  

Identity

HGNC
TONSL
LOCATION
8q24.3
LOCUSID
4796
ALIAS
IKBR,NFKBIL2,SEMDSP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4796
MIM: 604546
HGNC: 7801
Ensembl: ENSG00000160949

Variants:

dbSNP: 4796
ClinVar: 4796
TCGA: ENSG00000160949
COSMIC: TONSL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160949ENST00000409379Q96HA7
ENSG00000160949ENST00000613741A0A087X1F6

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
366223442023MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.4
370575952023TONSL Is an Immortalizing Oncogene and a Therapeutic Target in Breast Cancer.3
372984842023Oncogenic Impact of TONSL, a Homologous Recombination Repair Protein at the Replication Fork, in Cancer Stem Cells.1
366223442023MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.4
370575952023TONSL Is an Immortalizing Oncogene and a Therapeutic Target in Breast Cancer.3
372984842023Oncogenic Impact of TONSL, a Homologous Recombination Repair Protein at the Replication Fork, in Cancer Stem Cells.1
329590512020Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.1
329590512020Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.1
307230512019Overexpression of TONSL might be an independent unfavorable prognostic indicator in hepatocellular carcinoma.6
307732772019Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.13
307732782019Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.7
311583612019A novel long non-coding RNA TONSL-AS1 regulates progression of gastric cancer via activating TONSL.4
307230512019Overexpression of TONSL might be an independent unfavorable prognostic indicator in hepatocellular carcinoma.6
307732772019Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.13
307732782019Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.7

Citation

Dessen P

TONSL (tonsoku like, DNA repair protein)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51776/case-report-explorer/js/js/web-card-gene.js