• Gene id: 7101

Gene Summary

• Gene Symbol: NR2E1   Gene   UCSC   Ensembl
• Aliases: TLL, TLX, XTLL
• Gene name: nuclear receptor subfamily 2 group E member 1
• Alternate names: nuclear receptor subfamily 2 group E member 1, nuclear receptor TLX, protein tailless homolog, tailes-related receptor, tailless,
• Gene location: 6q21 (108166021: 108188808)     Exons: 10     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding differe
• OMIM: 603849

Protein Summary

• Protein general information: Q9Y466  
  • Name: Nuclear receptor subfamily 2 group E member 1 (Nuclear receptor TLX) (Protein tailless homolog) (Tll) (hTll)
  • Length: 385  
  • Mass: 42589
  • Tissue specificity: Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus. {ECO
• Sequence:

  MSKPAGSTSRILDIPCKVCGDRSSGKHYGVYACDGCSGFFKRSIRRNRTYVCKSGNQGGCPVDKTHRNQCRACRL
  KKCLEVNMNKDAVQHERGPRTSTIRKQVALYFRGHKEENGAAAHFPSAALPAPAFFTAVTQLEPHGLELAAVSTT
  PERQTLVSLAQPTPKYPHEVNGTPMYLYEVATESVCESAARLLFMSIKWAKSVPAFSTLSLQDQLMLLEDAWREL
  FVLGIAQWAIPVDANTLLAVSGMNGDNTDSQKLNKIISEIQALQEVVARFRQLRLDATEFACLKCIVTFKAVPTH
  SGSELRSFRNAAAIAALQDEAQLTLNSYIHTRYPTQPCRFGKLLLLLPALRSISPSTIEEVFFKKTIGNVPITRL
  LSDMYKSSDI

• Structural information:
  • Protein Domains: (155..38-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 4XAJ
  • PDBsum: 4XAJ
  • STRING: ENSP00000357979
• Other Databases: GeneCards:  NR2E1  Malacards:  NR2E1

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)