• Gene id: 8538

Gene Summary

• Gene Symbol: BARX2   Gene   UCSC   Ensembl
• Gene name: BARX homeobox 2
• Alternate names: homeobox protein BarH-like 2, BarH-like homeobox 2,
• Gene location: 11q24.3 (129375236: 129452278)     Exons: 6     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogene
• OMIM: 612761

Protein Summary

• Protein general information: Q9UMQ3  
  • Name: Homeobox protein BarH like 2
  • Length: 279  
  • Mass: 31188
  • Tissue specificity: Highly expressed in adult salivary gland and at much lower levels in mammary gland, kidney and placenta.
• Sequence:

  MHCHAELRLSSPGQLKAARRRYKTFMIDEILSKETCDYFEKLSLYSVCPSLVVRPKPLHSCTGSPSLRAYPLLSV
  ITRQPTVISHLVPATPGIAQALSCHQVTEAVSAEAPGGEALASSESETEQPTPRQKKPRRSRTIFTELQLMGLEK
  KFQKQKYLSTPDRLDLAQSLGLTQLQVKTWYQNRRMKWKKMVLKGGQEAPTKPKGRPKKNSIPTSEEIEAEEKMN
  SQAQGQEQLEPSQGQEELCEAQEPKARDVPLEMAEPPDPPQELPIPSSEPPPLS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000281437
• Other Databases: GeneCards:  BARX2  Malacards:  BARX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
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:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001502	cartilage condensation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0014902	myotube differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001502	cartilage condensation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

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