Gene Gene information from NCBI Gene database.
Entrez ID 4796
Gene name Tonsoku like, DNA repair protein
Gene symbol TONSL
Synonyms (NCBI Gene)
IKBRNFKBIL2SEMDSP
Chromosome 8
Chromosome location 8q24.3
Summary 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 t
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1335783881 C>T Uncertain-significance, pathogenic Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1424148372 C>A,G Pathogenic, uncertain-significance Intron variant, splice acceptor variant
rs1586681982 A>G Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
220
miRTarBase ID miRNA Experiments Reference
MIRT049574 hsa-miR-92a-3p CLASH 23622248
MIRT044557 hsa-miR-320a CLASH 23622248
MIRT039762 hsa-miR-615-3p CLASH 23622248
MIRT678203 hsa-miR-1203 HITS-CLIP 23824327
MIRT678201 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 27338793, 27797818
GO:0000724 Process Double-strand break repair via homologous recombination IMP 21055983, 21055984, 21055985, 30773278
GO:0005515 Function Protein binding IPI 21055983, 21055984, 21055985, 21113133, 27797818
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604546 7801 ENSG00000160949
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HA7
Protein name Tonsoku-like protein (Inhibitor of kappa B-related protein) (I-kappa-B-related protein) (IkappaBR) (NF-kappa-B inhibitor-like protein 2) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2)
Protein function Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133,
PDB 5JA4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 242 271 Tetratricopeptide repeat Repeat
PF00023 Ank 528 560 Ankyrin repeat Repeat
PF00023 Ank 561 591 Ankyrin repeat Repeat
PF00023 Ank 597 629 Ankyrin repeat Repeat
PF13516 LRR_6 1096 1119 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle and tracheal epithelial cells. {ECO:0000269|PubMed:7738005}.
Sequence
MSLERELRQLSKAKAKAQRAGQRREEAALCHQLGELLAGHGRYAEALEQHWQELQLRERA
DDPLGCAVAHRKIGERLAEMEDYPAALQHQHQYLELAHSLRNHTELQRAWATIGRTHLDI
YDHCQSRDALLQAQAAFEKSLAIVDEELEGTLAQGELNEMRTRLYLNLGLTFESLQQTAL
CNDYFRKSIFLAEQNHLYEDLFRARYNLGTIHWRAGQHSQAMRCLEGARECAHTMRKRFM
ESECCVVIAQVLQDLGDFLAAKRALKKAYRLGSQKPVQRAAICQNLQHVLAVVRLQQQLE
EAEGRDPQGAMVICEQLGDLFSKAGDFPRAAEAYQKQLRFAELLDRPGAERAIIHVSLAT
TLGDMKDHHGAVRHYEEELRLRSGNVLEEAKTWLNIALSREEAGDAYELLAPCFQKALSC
AQQAQRPQLQRQVLQHLHTVQLRLQPQEAPETETRLRELSVAEDEDEEEEAEEAAATAES
EALEAGEVELSEGEDDTDGLTPQLEEDEELQGHLGRRKGSKWNRRNDMGETLLHRACIEG
QLRRVQDLVRQGHPLNPRDY
CGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGIT
PLHDALNCGHFEVAELLLERGASVTLRTR
KGLSPLETLQQWVKLYRRDLDLETRQKARAM
EMLLQAAASGQDPHSSQAFHTPSSLLFDPETSPPLSPCPEPPSNSTRLPEASQAHVRVSP
GQAAPAMARPRRSRHGPASSSSSSEGEDSAGPARPSQKRPRCSATAQRVAAWTPGPASNR
EAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALIPEEECLAGDWLELDM
PLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLAS
EPPGSPSTPRVSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWL
AEQAAQRYYQTCGLLPRLTLRKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYR
RACQSLGQGEHQQVLQAVELQGLGLSFSACSLALDQAQLTPLLRALKLHTALRELRLAGN
RLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAMGLPGQATLQSLEELDLSMNP
LGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEHLKTLSLSYNA
LGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHL
GDKAVRDLCRCLSLCPSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQG
PLGLGLWDKIAAQLRELQLCSRRLCAEDRDALRQLQPSRPGPGECTLDHGSKLFFRRL
Sequence length 1378
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
124
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Skeletal dysplaisia with extra-skeletal manifestations Likely pathogenic rs1823455124 RCV001261726
Sponastrime dysplasia Likely pathogenic; Pathogenic rs761727821, rs372806119, rs568942029, rs2130847575, rs2130831990, rs782201765, rs2537499869, rs2537483665, rs755575416, rs769100855, rs1586681982, rs1586692058, rs1586687279, rs1341244760, rs782733226
View all (3 more)
RCV001783891
RCV001843995
RCV004699565
RCV002240145
RCV002238728
RCV002471485
RCV003226106
RCV003334465
RCV000790525
RCV000790526
RCV000790527
RCV000790529
RCV000790530
RCV001261724
RCV001261725
RCV001261721
RCV001261723
RCV001261722
TONSL-related disorder Likely pathogenic; Pathogenic rs568942029, rs2537508009, rs2537506917, rs1249246199, rs755575416 RCV003416628
RCV003395566
RCV003397697
RCV003400416
RCV003411741
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Benign rs112264814 RCV005911314
Familial cancer of breast Benign rs139005733 RCV005925820
Gastric cancer Benign rs142348672, rs2242263 RCV005914454
RCV005922754
Hepatocellular carcinoma Benign; Uncertain significance rs2242263, rs546704493 RCV005922753
RCV005924278
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 37746664
Colorectal Neoplasms Associate 36344807
Hereditary Breast and Ovarian Cancer Syndrome Stimulate 37298484
Inflammation Associate 24516231
Neoplasms Associate 20104618, 37298484, 37382632
Neoplasms Inhibit 25184681
Pneumococcal Infections Associate 21171993
Renal Insufficiency Chronic Associate 24516231
Spondyloepimetaphyseal dysplasia sponastrime type Associate 40122363
Uterine Cervical Neoplasms Associate 37746664