• Gene id: 9819

Gene Summary

• Gene Symbol: TSC22D2   Gene   UCSC   Ensembl
• Aliases: TILZ4a, TILZ4b, TILZ4c
• Gene name: TSC22 domain family member 2
• Alternate names: TSC22 domain family protein 2, TSC22 domain family 2, TSC22-related-inducible leucine zipper protein 4,
• Gene location: 3q25.1 (157876329: 157736445)     Exons: 16     NC_000002.12
• OMIM: 617724

Protein Summary

• Protein general information: O75157  
  • Name: TSC22 domain family protein 2 (TSC22 related inducible leucine zipper protein 4)
  • Length: 780  
  • Mass: 79228
• Sequence:

  MSKMPAKKKSCFQITSVTTAQVATSITEDTESLDDPDESRTEDVSSEIFDVSRATDYGPEEVCERSSSEETLNNV
  GDAETPGTVSPNLLLDGQLAAAAAAPANGGGVVSARSVSGALASTLAAAATSAPAPGAPGGPQLAGSSAGPVTAA
  PSQPPTTCSSRFRVIKLDHGSGEPYRRGRWTCMEYYERDSDSSVLTRSGDCIRHSSTFDQTAERDSGLGATGGSV
  VVVVASMQGAHGPESGTDSSLTAVSQLPPSEKMSQPTPAQPQSFSVGQPQPPPPPVGGAVAQSSAPLPPFPGAAT
  GPQPMMAAAQPSQPQGAGPGGQTLPPTNVTLAQPAMSLPPQPGPAVGAPAAQQPQQFAYPQPQIPPGHLLPVQPS
  GQSEYLQQHVAGLQPPSPAQPSSTGAAASPATAATLPVGTGQNASSVGAQLMGASSQPSEAMAPRTGPAQGGQVA
  PCQPTGVPPATVGGVVQPCLGPAGAGQPQSVPPPQMGGSGPLSAVPGGPHAVVPGVPNVPAAVPAPSVPSVSTTS
  VTMPNVPAPLAQSQQLSSHTPVSRSSSIIQHVGLPLAPGTHSAPTSLPQSDLSQFQTQTQPLVGQVDDTRRKSEP
  LPQPPLSLIAENKPVVKPPVADSLANPLQLTPMNSLATSVFSIAIPVDGDEDRNPSTAFYQAFHLNTLKESKSLW
  DSASGGGVVAIDNKIEQAMDLVKSHLMYAVREEVEVLKEQIKELVERNSLLERENALLKSLSSNDQLSQLPTQQA
  NPGSTSQQQAVIAQPPQPTQPPQQPNVSSA

• Structural information:
  • Interpro: IPR000580  
  • Prosite: PS01289
  • STRING: ENSP00000354543
• Other Databases: GeneCards:  TSC22D2  Malacards:  TSC22D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006970	response to osmotic stress	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray