• Gene id: 3142

Gene Summary

• Gene Symbol: HLX   Gene   UCSC   Ensembl
• Aliases: HB24, HLX1
• Gene name: H2.0 like homeobox
• Alternate names: H2.0-like homeobox protein, H2.0-like homeo box-1, H2.0-like homeobox 1, homeobox protein HB24, homeobox protein HLX1,
• Gene location: 1q41 (220879442: 220885058)     Exons: 4     NC_000001.11
• OMIM: 603541

Protein Summary

• Protein general information: Q14774  
  • Name: H2.0 like homeobox protein (Homeobox protein HB24) (Homeobox protein HLX1)
  • Length: 488  
  • Mass: 50789
  • Tissue specificity: Low level in normal B and T-cells, high level in activated lymphocytes and monocytes. Also found in thymus, tonsil, bone marrow, developing vessels, and fetal brain.
• Sequence:

  MFAAGLAPFYASNFSLWSAAYCSSAGPGGCSFPLDPAAVKKPSFCIADILHAGVGDLGAAPEGLAGASAAALTAH
  LGSVHPHASFQAAARSPLRPTPVVAPSEVPAGFPQRLSPLSAAYHHHHPQQQQQQQQPQQQQPPPPPRAGALQPP
  ASGTRVVPNPHHSGSAPAPSSKDLKFGIDRILSAEFDPKVKEGNTLRDLTSLLTGGRPAGVHLSGLQPSAGQFFA
  SLDPINEASAILSPLNSNPRNSVQHQFQDTFPGPYAVLTKDTMPQTYKRKRSWSRAVFSNLQRKGLEKRFEIQKY
  VTKPDRKQLAAMLGLTDAQVKVWFQNRRMKWRHSKEAQAQKDKDKEAGEKPSGGAPAADGEQDERSPSRSEGEAE
  SESSDSESLDMAPSDTERTEGSERSLHQTTVIKAPVTGALITASSAGSGGSSGGGGNSFSFSSASSLSSSSTSAG
  CASSLGGGGASELLPATQPTASSAPKSPEPAQGALGCL

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000355870
• Other Databases: GeneCards:  HLX  Malacards:  HLX

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:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	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:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048513	animal organ development	IEA	biological process
GO:0045629	negative regulation of T-helper 2 cell differentiation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0046622	positive regulation of organ growth	IEA	biological process
GO:0045627	positive regulation of T-helper 1 cell differentiation	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	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
Cryptorchidism	MIK: 28606200

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