• Gene id: 25987

Gene Summary

• Gene Symbol: TSKU   Gene   UCSC   Ensembl
• Aliases: E2IG4, LRRC54, TSK
• Gene name: tsukushi, small leucine rich proteoglycan
• Alternate names: tsukushin, E2-induced gene 4 protein, leucine rich repeat containing 54, leucine-rich repeat-containing protein 54, tsukushi homolog, tsukushi small leucine rich proteoglycan homolog,
• Gene location: 11q13.5 (76782312: 76798153)     Exons: 5     NC_000011.10
• OMIM: 120240

Protein Summary

• Protein general information: Q8WUA8  
  • Name: Tsukushin (Tsukushi) (E2 induced gene 4 protein) (Leucine rich repeat containing protein 54)
  • Length: 353  
  • Mass: 37807
• Sequence:

  MPWPLLLLLAVSGAQTTRPCFPGCQCEVETFGLFDSFSLTRVDCSGLGPHIMPVPIPLDTAHLDLSSNRLEMVNE
  SVLAGPGYTTLAGLDLSHNLLTSISPTAFSRLRYLESLDLSHNGLTALPAESFTSSPLSDVNLSHNQLREVSVSA
  FTTHSQGRALHVDLSHNLIHRLVPHPTRAGLPAPTIQSLNLAWNRLHAVPNLRDLPLRYLSLDGNPLAVIGPGAF
  AGLGGLTHLSLASLQRLPELAPSGFRELPGLQVLDLSGNPKLNWAGAEVFSGLSSLQELDLSGTNLVPLPEALLL
  HLPALQSVSVGQDVRCRRLVREGTYPRRPGSSPKVALHCVDTRDSAARGPTIL

• Structural information:
  • Protein Domains: (17..5-)
    (/note="LRRNT"-)
  • Interpro: IPR001611  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000434847
• Other Databases: GeneCards:  TSKU  Malacards:  TSKU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0061073	ciliary body morphogenesis	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0021960	anterior commissure morphogenesis	IEA	biological process
GO:0021670	lateral ventricle development	IEA	biological process
GO:0021540	corpus callosum morphogenesis	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R