Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4796
Gene name Gene Name - the full gene name approved by the HGNC.	Tonsoku like, DNA repair protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TONSL
Synonyms (NCBI Gene) Gene synonyms aliases	IKBR, NFKBIL2, SEMDSP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SEMDSP
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez 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 t

Show/Hide all(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

Show/Hide all(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
MIRT678202	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678200	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678199	hsa-miR-3199	HITS-CLIP	23824327
MIRT678198	hsa-miR-8052	HITS-CLIP	23824327
MIRT678197	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT678196	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT678203	hsa-miR-1203	HITS-CLIP	23824327
MIRT678201	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678202	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678200	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678199	hsa-miR-3199	HITS-CLIP	23824327
MIRT678198	hsa-miR-8052	HITS-CLIP	23824327
MIRT678197	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT678196	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447022	hsa-miR-4278	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447028	hsa-miR-4530	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447033	hsa-miR-4688	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447036	hsa-miR-4729	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447041	hsa-miR-579	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447043	hsa-miR-646	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2133682	hsa-miR-4438	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT2133683	hsa-miR-5095	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT2133682	hsa-miR-4438	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT2133683	hsa-miR-5095	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT2648609	hsa-miR-139-3p	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT2648609	hsa-miR-139-3p	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005662	Component	DNA replication factor A complex	IDA	21055983
GO:0005737	Component	Cytoplasm	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031297	Process	Replication fork processing	IMP	21055983, 21055984, 21055985
GO:0035101	Component	FACT complex	IDA	21055983
GO:0042393	Function	Histone binding	IDA	21055983, 21055984
GO:0042555	Component	MCM complex	IDA	21055983, 21055984
GO:0043596	Component	Nuclear replication fork	IDA	21055983, 21055984

MIM	HGNC	e!Ensembl
604546	7801	ENSG00000160949

Protein

UniProt ID

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
QLRRVQDLVRQGHPLNPRDYCGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGIT
PLHDALNCGHFEVAELLLERGASVTLRTRKGLSPLETLQQWVKLYRRDLDLETRQKARAM
EMLLQAAASGQDPHSSQAFHTPSSLLFDPETSPPLSPCPEPPSNSTRLPEASQAHVRVSP
GQAAPAMARPRRSRHGPASSSSSSEGEDSAGPARPSQKRPRCSATAQRVAAWTPGPASNR
EAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALIPEEECLAGDWLELDM
PLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLAS
EPPGSPSTPRVSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWL
AEQAAQRYYQTCGLLPRLTLRKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYR
RACQSLGQGEHQQVLQAVELQGLGLSFSACSLALDQAQLTPLLRALKLHTALRELRLAGN
RLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAMGLPGQATLQSLEELDLSMNP
LGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEHLKTLSLSYNA
LGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHL
GDKAVRDLCRCLSLCPSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQG
PLGLGLWDKIAAQLRELQLCSRRLCAEDRDALRQLQPSRPGPGECTLDHGSKLFFRRL

Sequence length

1378

Interactions

View interactions

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sponastrime dysplasia	SPONASTRIME dysplasia	rs755575416, rs769100855, rs1586681982, rs1586692058, rs1586687279
Spondyloenchondrodysplasia	Spondyloepimetaphyseal dysplasia, sponastrime type	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880 View all (39 more)	30773278, 30773277
Spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal disorder	rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth		GWAS, CBGDA

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
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

TONSL (tonsoku like, DNA repair protein)