• Gene id: 84839

Gene Summary

• Gene Symbol: RAX2   Gene   UCSC   Ensembl
• Aliases: ARMD6, CORD11, QRX, RAXL1
• Gene name: retina and anterior neural fold homeobox 2
• Alternate names: retina and anterior neural fold homeobox protein 2, Q50-type retinal homeobox protein, retina and anterior neural fold homeobox like 1, retina and anterior neural fold homeobox-like protein 1,
• Gene location: 19p13.3 (3772227: 3769088)     Exons: 3     NC_000019.10
• Gene summary(Entrez): This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epit
• OMIM: 300313

Protein Summary

• Protein general information: Q96IS3  
  • Name: Retina and anterior neural fold homeobox protein 2 (Q50 type retinal homeobox protein) (Retina and anterior neural fold homeobox like protein 1)
  • Length: 184  
  • Mass: 20086
• Sequence:

  MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLERAFEASHYPDVYSREELAAKVHLPEVRVQVWF
  QNRRAKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPLEPWLGPGPPAVPGLPRLLGPGPGLQASFGPHA
  FAPTFADGFALEEASLRLLAKEHAQALDRAWPPA

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR036934  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000450456
• Other Databases: GeneCards:  RAX2  Malacards:  RAX2

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: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	ISM	molecular function
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:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Age-related macular degeneration	KEGG:H00821
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Age-related macular degeneration	KEGG:H00821
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