• Gene id: 4796

Gene Summary

• Gene Symbol: TONSL   Gene   UCSC   Ensembl
• Aliases: IKBR, NFKBIL2, SEMDSP
• Gene name: tonsoku like, DNA repair protein
• Alternate names: tonsoku-like protein, I-kappa-B-related protein, NF-kappa-B inhibitor-like protein 2, ikappaBR, inhibitor of kappa B-related protein, nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2,
• Gene location: 8q24.3 (144444487: 144428774)     Exons: 26     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 601818

Protein Summary

• Protein general information: Q96HA7  
  • 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)
  • Length: 1378  
  • Mass: 150929
  • Tissue specificity: Expressed in heart, skeletal muscle and tracheal epithelial cells. {ECO
• Sequence:

  MSLERELRQLSKAKAKAQRAGQRREEAALCHQLGELLAGHGRYAEALEQHWQELQLRERADDPLGCAVAHRKIGE
  RLAEMEDYPAALQHQHQYLELAHSLRNHTELQRAWATIGRTHLDIYDHCQSRDALLQAQAAFEKSLAIVDEELEG
  TLAQGELNEMRTRLYLNLGLTFESLQQTALCNDYFRKSIFLAEQNHLYEDLFRARYNLGTIHWRAGQHSQAMRCL
  EGARECAHTMRKRFMESECCVVIAQVLQDLGDFLAAKRALKKAYRLGSQKPVQRAAICQNLQHVLAVVRLQQQLE
  EAEGRDPQGAMVICEQLGDLFSKAGDFPRAAEAYQKQLRFAELLDRPGAERAIIHVSLATTLGDMKDHHGAVRHY
  EEELRLRSGNVLEEAKTWLNIALSREEAGDAYELLAPCFQKALSCAQQAQRPQLQRQVLQHLHTVQLRLQPQEAP
  ETETRLRELSVAEDEDEEEEAEEAAATAESEALEAGEVELSEGEDDTDGLTPQLEEDEELQGHLGRRKGSKWNRR
  NDMGETLLHRACIEGQLRRVQDLVRQGHPLNPRDYCGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGIT
  PLHDALNCGHFEVAELLLERGASVTLRTRKGLSPLETLQQWVKLYRRDLDLETRQKARAMEMLLQAAASGQDPHS
  SQAFHTPSSLLFDPETSPPLSPCPEPPSNSTRLPEASQAHVRVSPGQAAPAMARPRRSRHGPASSSSSSEGEDSA
  GPARPSQKRPRCSATAQRVAAWTPGPASNREAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALI
  PEEECLAGDWLELDMPLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLAS
  EPPGSPSTPRVSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWLAEQAAQRYYQTCGLL
  PRLTLRKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYRRACQSLGQGEHQQVLQAVELQGLGLSFSAC
  SLALDQAQLTPLLRALKLHTALRELRLAGNRLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAMGLPGQ
  ATLQSLEELDLSMNPLGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEHLKTLSLSYNA
  LGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHLGDKAVRDLCRCLSLC
  PSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQGPLGLGLWDKIAAQLRELQLCSRRLCAEDRD
  ALRQLQPSRPGPGECTLDHGSKLFFRRL

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR001611  IPR032675   IPR013026  IPR011990  IPR019734  
  • Prosite: PS50297 PS50088 PS50293
  • PDB: 5JA4
  • PDBsum: 5JA4
  • STRING: ENSP00000386239
• Other Databases: GeneCards:  TONSL  Malacards:  TONSL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0035101	FACT complex	IDA	colocalizes with
GO:0042555	MCM complex	IDA	colocalizes with
GO:0042555	MCM complex	IDA	colocalizes with
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0042994	cytoplasmic sequestering of transcription factor	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq