• Gene id: 3196

Gene Summary

• Gene Symbol: TLX2   Gene   UCSC   Ensembl
• Aliases: HOX11L1, NCX
• Gene name: T cell leukemia homeobox 2
• Alternate names: T-cell leukemia homeobox protein 2, homeo box 11-like 1, homeobox protein Hox-11L1, neural crest homeobox protein,
• Gene location: 2p13.1 (74514449: 74517147)     Exons: 3     NC_000002.12
• Gene summary(Entrez): This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role
• OMIM: 606791

Protein Summary

• Protein general information: O43763  
  • Name: T cell leukemia homeobox protein 2 (Homeobox protein Hox 11L1) (Neural crest homeobox protein)
  • Length: 284  
  • Mass: 30251
• Sequence:

  MEPGMLGPHNLPHHEPISFGIDQILSGPETPGGGLGLGRGGQGHGENGAFSGGYHGASGYGPAGSLAPLPGSSGV
  GPGGVIRVPAHRPLPVPPPAGGAPAVPGPSGLGGAGGLAGLTFPWMDSGRRFAKDRLTAALSPFSGTRRIGHPYQ
  NRTPPKRKKPRTSFSRSQVLELERRFLRQKYLASAERAALAKALRMTDAQVKTWFQNRRTKWRRQTAEEREAERH
  RAGRLLLHLQQDALPRPLRPPLPPDPLCLHNSSLFALQNLQPWAEDNKVASVSGLASVV

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR042247  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 3A03
  • PDBsum: 3A03
  • STRING: ENSP00000233638
• Other Databases: GeneCards:  TLX2  Malacards:  TLX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048513	animal organ development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050774	negative regulation of dendrite morphogenesis	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001707	mesoderm formation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray