• Gene id: 30062

Gene Summary

• Gene Symbol: RAX   Gene   UCSC   Ensembl
• Aliases: MCOP3, RX
• Gene name: retina and anterior neural fold homeobox
• Alternate names: retinal homeobox protein Rx, retina and anterior neural fold homeobox protein,
• Gene location: 18q21.32 (59273453: 59267037)     Exons: 3     NC_000018.10
• Gene summary(Entrez): This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in
• OMIM: 611306

Protein Summary

• Protein general information: Q9Y2V3  
  • Name: Retinal homeobox protein Rx (Retina and anterior neural fold homeobox protein)
  • Length: 346  
  • Mass: 36676
  • Tissue specificity: Expressed in the developing eye and weakly expressed in the adult retina.
• Sequence:

  MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPK
  APEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHE
  LERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLG
  AGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPP
  PSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000334813
• Other Databases: GeneCards:  RAX  Malacards:  RAX

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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Microphthalmia	KEGG:H01027
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881